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Gene: Dlx5 MGI:101926

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
distal-less homeobox 5
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dlx5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Dlx5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... OMIM:183600
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Tapered finger, Sensorineural hearing impairment, Split hand, Split foot, Scoliosis OMIM:220600
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Oligodactyly ORPHA:2440

The table below shows human diseases predicted to be associated to Dlx5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Deafness-Oligodontia Syndrome
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment ORPHA:3230
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Redundant neck skin, Anteverted nares, Single transverse palmar crease, Narrow... OMIM:236500
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, Overfolded helix... ORPHA:79113
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Wid... OMIM:619736
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Intellectual Disability, Birk-Barel Type
Narrow nasal bridge, Hyperactivity, Tented upper lip vermilion, Foot joint contracture, Spinal mu... ORPHA:166108
Otodental Syndrome
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Anteverted nares, Abn... ORPHA:2791
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Wide ant... OMIM:614541
Otodental Dysplasia
Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme... OMIM:166750
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set... ORPHA:1908
Lissencephaly, X-Linked, 2
Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Feeding difficulties in infancy, ... OMIM:300215
Rubinstein-Taybi Syndrome 2
Hyperactivity, Posteriorly rotated ears, Intestinal malrotation, Micrognathia, Carious teeth, Pro... OMIM:613684
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... ORPHA:2412
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Autism, Susceptibility To, 20
Impaired social interactions OMIM:618830
Gomez-Lopez-Hernandez Syndrome
Hyperactivity, Posteriorly rotated ears, Ataxia, Craniosynostosis, Anteverted nares, Wide anterio... OMIM:601853
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Short neck, Microcep... ORPHA:2570
Acrocraniofacial Dysostosis
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Abnormality of the malleus, ... ORPHA:949
Recon Progeroid Syndrome
Attached earlobe, Skeletal muscle atrophy, Prominence of the premaxilla, Joint laxity, Anteverted... OMIM:620370
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... OMIM:183700
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Dyspnea, Large fo... ORPHA:1832
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Dental malocclusion, Cle... OMIM:608545
Craniometadiaphyseal Dysplasia
Osteopenia, Natal tooth, Mandibular prognathia, Dental crowding, Microdontia, Carious teeth, Wide... OMIM:269300
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foo... OMIM:614120
Frontonasal Dysplasia 1
Median cleft lip, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Conductive hearing... OMIM:136760
Peroxisome Biogenesis Disorder 7A (Zellweger)
Death in infancy, Large posterior fontanelle, Posteriorly rotated ears, Wide anterior fontanel, F... OMIM:614872
Mullegama-Klein-Martinez Syndrome
Micrognathia, Prominent nose, Short philtrum, Bifid uvula, Depressed nasal bridge, Cleft lip, Wid... OMIM:301022
48,Xxyy Syndrome
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Carious teeth, Open bite... ORPHA:10
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Ovoid vertebral bodies,... ORPHA:163649
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation OMIM:274600
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Aarskog-Scott Syndrome
Genu recurvatum, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Abnormal vertebral segme... ORPHA:915
Lowry-Maclean Syndrome
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narro... ORPHA:2409
Chromosome 13Q33-Q34 Deletion Syndrome
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate, Advanced erup... OMIM:619148
Brachydactyly, Type C
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... OMIM:113100
Peroxisome Biogenesis Disorder 3A (Zellweger)
Feeding difficulties in infancy, Wide anterior fontanel, Wide nasal bridge, Epiphyseal stippling,... OMIM:614859
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Pelvis-Shoulder Dysplasia
Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent protruding coccyx, Abnormal form of the... ORPHA:2839
Czeizel-Losonci Syndrome
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Prominent antit... ORPHA:2437
Rhizomelic Syndrome, Urbach Type
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridg... ORPHA:3098
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft palate, Abnormal... ORPHA:2145
Snijders Blok-Campeau Syndrome
Joint laxity, Prominent nose, Wide nasal bridge, Taurodontia, High palate, Widely spaced teeth, L... OMIM:618205
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Convex... ORPHA:87
Gillessen-Kaesbach-Nishimura Syndrome
Posteriorly rotated ears, Micrognathia, Underdeveloped nasal alae, Wide anterior fontanel, Flexio... OMIM:263210
Hydrolethalus
Low-set, posteriorly rotated ears, Absent septum pellucidum, Micromelia, Micrognathia, Hydrocepha... ORPHA:2189
Branchiootic Syndrome
Branchial fistula, Facial palsy, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnorma... ORPHA:52429
Charlie M Syndrome
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... ORPHA:1406
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Abnormal form of the vertebral b... ORPHA:819
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Hypopl... OMIM:614753
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Down-sloping... ORPHA:96264
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... OMIM:259420
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Atkin-Flaitz Syndrome
Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted lower lip vermilion, Thi... ORPHA:1193
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... ORPHA:199306
17Q21.31 Microduplication Syndrome
Anteverted nares, Micrognathia, Abnormality of the dentition, High palate, Short philtrum, Compul... ORPHA:217340
Cousin Syndrome
Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac w... OMIM:260660
Van Maldergem Syndrome 1
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... OMIM:601390
Moebius Syndrome
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Abnormal pinn... OMIM:157900
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Deep philtru... OMIM:137550
Distal Deletion 10Q
Micrognathia, Prominent nose, Protruding ear, High palate, Spina bifida occulta, Prominent metopi... ORPHA:96148
Verheij Syndrome
Branchial cyst, Vertebral fusion, Anteverted nares, Optic nerve hypoplasia, Short neck, Broad nas... OMIM:615583
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Optic atrophy, Protruding ear,... OMIM:618737
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Anteriorly placed an... OMIM:602535
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Depressed nasal bridge, Anteverted nares, Micrognathia, Wide anterior fontanel, Kyphosis, Protube... OMIM:618272
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Feeding diff... OMIM:219200
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital pterygium, Bilateral c... OMIM:619339
Lujan-Fryns Syndrome
Dental crowding, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Pectus excavatum,... ORPHA:776
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Abnormality of orbicularis oris muscle, Cleft upper lip, D... ORPHA:401942
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Micrognathia, Sensorineural hearing impairment, Achilles tendon contract... OMIM:620323
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Abnormal form of the vertebral bodies, Pectus carinatum,... ORPHA:1327
Catifa Syndrome
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Microtia, Increased overbit... OMIM:618761
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Zellweger Syndrome
Death in infancy, Depressed nasal bridge, Micrognathia, Feeding difficulties in infancy, Wide ant... ORPHA:912
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce... OMIM:614886
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Aplasia/Hypoplasia of ... ORPHA:3236
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... OMIM:616367
Van Maldergem Syndrome 2
Osteopenia, Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxi... OMIM:615546
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Pectus carina... ORPHA:261295
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies
Thin upper lip vermilion, Anteverted nares, Micrognathia, Short 5th finger, Low-set ears, Scolios... OMIM:618608
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Camptodactyly of fin... ORPHA:1703
Sweeney-Cox Syndrome
Uplifted earlobe, Micrognathia, High palate, Gastroesophageal reflux, Short philtrum, Median clef... OMIM:617746
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... OMIM:246560
Crouzon Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Narrow palate, Multiple... ORPHA:207
Cranioectodermal Dysplasia
Anteverted nares, Abnormal dental enamel morphology, Rhizomelia, Abnormality of the dentition, Pe... ORPHA:1515
Acrofacial Dysostosis Syndrome Of Rodriguez
Posteriorly rotated ears, Micrognathia, Prominent nose, Wide anterior fontanel, Wide nasal bridge... OMIM:201170
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Camptodactyly of finger, Prominent nasal bridge, Aggressive behavior, Hypoplasia of the maxilla, ... ORPHA:85279
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear OMIM:618302
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Down-sloping... ORPHA:96263
Lateral Meningocele Syndrome
Decreased muscle mass, Dental crowding, Micrognathia, High palate, Conductive hearing impairment,... OMIM:130720
Chromosome Xq21 Deletion Syndrome
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... OMIM:303110
Cranioectodermal Dysplasia 4
Anteverted nares, Joint hypermobility, Sagittal craniosynostosis, Pectus excavatum, Protruding ea... OMIM:614378
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... OMIM:609166
Progeroid Syndrome, Petty Type
Mandibular prognathia, Low-set, posteriorly rotated ears, Wide anterior fontanel, Tooth agenesis,... ORPHA:2963
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Prominent nasal bridge, Hypoplasia of the musculature,... OMIM:265050
Fibrochondrogenesis 1
Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, Wide anterior fontanel, Narr... OMIM:228520
Short-Rib Thoracic Dysplasia 12
Short neck, Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, ... OMIM:269860
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Prominent nose, Carious teeth, ... OMIM:203550
Heart And Brain Malformation Syndrome
Attached earlobe, Prominent metopic ridge, Posteriorly rotated ears, Camptodactyly of finger, Ant... OMIM:616920
Marden-Walker Syndrome
Anteverted nares, Micrognathia, Wide anterior fontanel, High, narrow palate, Pyloric stenosis, Na... OMIM:248700
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Stapes ankylosis, Anteverted nares, Intestinal malrotation, Velopharyng... OMIM:614701
Acrootoocular Syndrome
Micrognathia, High, narrow palate, Conductive hearing impairment, Anodontia, Small hypothenar emi... ORPHA:2980
7Q31 Microdeletion Syndrome
Hyperactivity, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla, Nasogastric tube feed... ORPHA:251061
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Non-midline cleft lip, S... ORPHA:2549
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Feeding difficulties in inf... OMIM:182212
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Low-set ears, Long p... OMIM:615502
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... ORPHA:1529
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Opitz-Kaveggia Syndrome
Single transverse palmar crease, Micrognathia, Prominent nose, Short neck, Partial agenesis of th... OMIM:305450
Lateral Meningocele Syndrome
Dental crowding, Micrognathia, High, narrow palate, Abnormal form of the vertebral bodies, High p... ORPHA:2789
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Posteriorly rotated ears, Micrognathia, Kyphosis, Wide... OMIM:618393
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, C... ORPHA:798
Pycnodysostosis
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... ORPHA:763
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Wid... OMIM:157980
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Rhizomelic Syndrome
Wide anterior fontanel, Hip dislocation, Micrognathia OMIM:268250
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Papilledema, Thickened ribs, Depressed nasal br... OMIM:122860
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate... OMIM:618363
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Wi... ORPHA:2863
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Abnormal pinna morphology, Anteverted nares,... OMIM:217980
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, Protruding ear, High palate, Short philtrum, Abnormal repetitive m... OMIM:618342
Zaki Syndrome
Sparse scalp hair, Wide nose, Toe syndactyly, Anteverted nares, Cerebellar vermis hypoplasia, Mic... OMIM:619648
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Delayed closure of the anterior font... OMIM:225410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, High, narrow palate, High palate, Death in childhood, Loss of ambulation, Neonatal ... OMIM:214100
Momo Syndrome
Delayed eruption of teeth, Underfolded helix, Thick lower lip vermilion, Dental malocclusion, Abn... ORPHA:2563
Amelogenesis Imperfecta
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... ORPHA:88661
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Ataxia, Aggressive behavior, Wide anterior ... ORPHA:457279
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Micrognathia, Glossoptosis, Mandibular condyle apla... OMIM:614669
Distal Deletion 1Q
Depressed nasal bridge, Micrognathia, Thin vermilion border, Low-set ears, Smooth philtrum ORPHA:36367
Brachydactyly, Type B1
Vertebral fusion, Thoracolumbar scoliosis, Wide anterior fontanel, Hemivertebrae, Delayed eruptio... OMIM:113000
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Abnormal form of the ve... ORPHA:93262
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:218000
Tetrasomy 5P
Respiratory distress, Posteriorly rotated ears, Anteverted nares, Micrognathia, Wide anterior fon... ORPHA:3309
Oculodentodigital Dysplasia
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... ORPHA:2710
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus... ORPHA:192
Eem Syndrome
Finger syndactyly, Absent eyebrow, Sparse scalp hair, Carious teeth, Ectrodactyly, Sparse body hair ORPHA:1897
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Joint laxity, Facial hypotonia, Abnormality of muscle size, Uplifted earlo... ORPHA:364028
Uruguay Faciocardiomusculoskeletal Syndrome
Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Left ventricular hypertrophy, Li... OMIM:300280
Neonatal Adrenoleukodystrophy
Low-set, posteriorly rotated ears, Anteverted nares, Wide anterior fontanel, Sensorineural hearin... ORPHA:44
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... ORPHA:2972
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Achondroplasia
Short nasal bridge, Lumbar hyperlordosis, Anteverted nares, Depressed nasal bridge, Hip joint hyp... ORPHA:15
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Micrognathia, Clef... ORPHA:2015
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Dental crowding, Micrognathia, Hypoplasia of the... OMIM:257850
Mmep Syndrome
Mandibular prognathia, Split foot, Triphalangeal thumb, Microcephaly ORPHA:3434
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wr... ORPHA:481152
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... OMIM:128980
Carey-Fineman-Ziter Syndrome 2
Thin upper lip vermilion, Dental crowding, Anteverted nares, Posteriorly rotated ears, Underdevel... OMIM:619941
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia ORPHA:93945
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur... OMIM:613849
Anauxetic Dysplasia 3
Depressed nasal bridge, Thoracolumbar kyphoscoliosis, Wide anterior fontanel, Feeding difficultie... OMIM:618853
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Micrognathia, Nasogastric tube feeding in infancy, Dyspnea, Temporomandibul... ORPHA:141152
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Microt... OMIM:141300
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Finger syndactyly, Mandibular prognathia, Single transverse palmar crease, Ankle ... ORPHA:435938
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal ti... OMIM:300602
20P13 Microdeletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Abnormal pinna mo... ORPHA:313781
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short palm, Conductive... OMIM:235510
Filippi Syndrome
Underdeveloped nasal alae, Optic atrophy, Wide nasal bridge, Serrated incisors, Thin vermilion bo... OMIM:272440
Autosomal Recessive Cutis Laxa Type 2A
Persistent open anterior fontanelle, Congenital hip dislocation, Ataxia, Delayed cranial suture c... ORPHA:357058
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,... OMIM:620099
8Q22.1 Microdeletion Syndrome
Underfolded helix, Abnormal pinna morphology, Camptodactyly of finger, Abnormality of the dentiti... ORPHA:178303
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Hearing impairment, Hy... ORPHA:1860
Chromosome 22Q11.2 Duplication Syndrome
Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasal ridge, Hig... OMIM:608363
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Depressed nasal br... ORPHA:137834
Cerebrocostomandibular Syndrome
Death in infancy, Cerebral calcification, Spina bifida, Micrognathia, Microcephaly, Kyphosis, Mye... ORPHA:1393
Dubowitz Syndrome
Micrognathia, Rectal prolapse, Protruding ear, High palate, Spina bifida occulta, Low-set, poster... ORPHA:235
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achi... OMIM:619719
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Wide anterior fontanel,... ORPHA:2143
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... ORPHA:2790
Rapp-Hodgkin Syndrome
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious teeth, Coni... OMIM:129400
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Abnormal pinna morphology, Depressed nasal bridge, Choanal atresia, Wide anterior fontanel, Hydro... OMIM:207410
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Wide nose, Hyperactivity, Depressed nasal bridge, Anteverted nares, Ab... OMIM:614607
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, Joint ... ORPHA:90653
Acces Syndrome
Sparse scalp hair, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistula, Protruding e... OMIM:619959
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... OMIM:259600
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... OMIM:300534
Craniolenticulosutural Dysplasia
Osteopenia, Gastroesophageal reflux, High palate, Bifid uvula, Joint laxity, Anteverted nares, Wi... OMIM:607812
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... ORPHA:2180
Catel-Manzke Syndrome
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pectus excavatum, Joint... ORPHA:1388
Trisomy 18
Pointed helix, Holoprosencephaly, Bilateral single transverse palmar creases, Microretrognathia, ... ORPHA:3380
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Skraban-Deardorff Syndrome
Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Widely ... OMIM:617616
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Anteverted nares, Exaggerated cupid's bow, Posteriorly rotated ears, Wide mouth, Delayed eruption... OMIM:618506
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Conductive hearing impairment, ... ORPHA:794
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Orofaciodigital Syndrome Xix
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf... OMIM:620107
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Op... ORPHA:1513
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Abnormal cartilage morphology, Abnormal cartilage matrix, Cleft palate, H... ORPHA:2347
Mohr Syndrome
Short palm, Median cleft lip, Depressed nasal bridge, Wormian bones, Accessory oral frenulum, Mic... OMIM:252100
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Gingival overgrowth, Hearing impairment, Abnormality of the dentition ORPHA:2222
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Macrodontia, Prominent nose, Pectus excavatum, Hi... ORPHA:3242
2Q31.1 Microdeletion Syndrome
Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Vertebral ... ORPHA:251014
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Abnormal number of incisors, Prominent nose, Osteoporosis, Patellar subluxation, Supernumerary ri... ORPHA:2958
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Death in infancy, Depressed nasal bridge, Micrognathia, Bulbous nose, Optic atrophy, Death in chi... OMIM:618766
Oculodentodigital Dysplasia
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Conductive hearing im... OMIM:164200
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliteration, Selective tooth agen... ORPHA:49042
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polyda... OMIM:614175
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... OMIM:183600
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Prominent ... ORPHA:1307
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Osteopathia Striata-Cranial Sclerosis Syndrome
Micrognathia, High, narrow palate, Conductive hearing impairment, Spina bifida occulta, Bifid uvu... ORPHA:2780
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior... ORPHA:85184
Opitz Gbbb Syndrome
Smooth philtrum, Thin upper lip vermilion, Abnormal nasopharynx morphology, Posteriorly rotated e... OMIM:300000
Gapo Syndrome
Anteverted nares, Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Mic... OMIM:230740
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... OMIM:309520
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Mesomelia, Convex nasal ridge, Brachydactyly ORPHA:1277
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Broad nasal tip, Micrognathia, Cleft palate, Small thenar eminence, Microtia, Sh... OMIM:239800
Braddock-Carey Syndrome 2
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c... OMIM:619981
Cohen Syndrome
Thoracic scoliosis, Short metacarpal, Facial hypotonia, Prominent nasal bridge, Lumbar hyperlordo... OMIM:216550
Coffin-Siris Syndrome 3
Joint laxity, Wide nose, Depressed nasal bridge, Anteverted nares, Central diaphragmatic hernia, ... OMIM:614608
Nance-Horan Syndrome
Prominent nasal bridge, Prominent nose, Diastema, Macrotia, Mulberry molar, Supernumerary maxilla... OMIM:302350
Noonan Syndrome
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... ORPHA:648
Seckel Syndrome 5
11 pairs of ribs, Prominent nasal bridge, Selective tooth agenesis, Micrognathia, Cleft palate, O... OMIM:613823
Ciliary Dyskinesia, Primary, 2
Nasal polyposis, Sinusitis, Absent inner and outer dynein arms, Otitis media, Hearing impairment OMIM:606763
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, High palate, Conductive hearing impairment, Spina bifida... OMIM:201000
Primary Ciliary Dyskinesia
Nasal polyposis, Intestinal malrotation, Hydrocephalus, Nasal congestion, Recurrent otitis media,... ORPHA:244
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Prominent nasal bridge, Sensorineural hearing impairment, Osteoporosis... ORPHA:71267
Aminopterin Syndrome Sine Aminopterin
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... OMIM:600325
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Facial hypotonia, Underde... ORPHA:438216
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... OMIM:200990
Congenital Disorder Of Glycosylation, Type Iy
Joint dislocation, Respiratory distress, Micrognathia, Feeding difficulties, Wide mouth, Widely s... OMIM:300934
Holoprosencephaly 7
Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Median cleft palate, Hypop... OMIM:610828
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Abnormal nasopharynx morphology, Mixed hearing impairment, Facial palsy, A... OMIM:218400
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal pinna morphology, Depressed nasal bridge, Hyperlordosis, Wide anterior fontanel, Reye sy... ORPHA:26791
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasia of the brainstem, Cerebellar ... OMIM:225790
Nager Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... ORPHA:245
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... ORPHA:1106
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Posteriorly rotated ears, Depressed nasal bridge, Broad nas... ORPHA:488437
Non-Distal Duplication 10Q
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint ... ORPHA:1695
Arthrogryposis, Distal, Type 2E
Foot joint contracture, Micrognathia, Trismus, Distal arthrogryposis, Narrow mouth, Absent antihe... OMIM:121070
Hartsfield Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Split... ORPHA:2117
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Macrotia, Anal atresia ORPHA:93950
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Prominent nasal bridge, Abnormality of the dentition, Pectus excavatum, Carious teeth, Prominent ... ORPHA:3270
Monosomy 5P
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Short neck, Microcephaly... ORPHA:281
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Nasal polyposis, Chronic sinusitis OMIM:604571
Distal Deletion 13Q
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Anencephal... ORPHA:1590
Intellectual Developmental Disorder, Autosomal Recessive 69
Facial hypotonia, Hyperplasia of the maxilla OMIM:618383
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... OMIM:170390
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal... ORPHA:85199
Acrofrontofacionasal Dysostosis 2
Wide nose, Posteriorly rotated ears, Wide anterior fontanel, High palate, Low-set ears, Overfolde... OMIM:239710
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Micromelia, Micrognathia, Abnormal form of the v... ORPHA:628
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D... OMIM:619797
Hypothyroidism, Congenital, Nongoitrous, 4
Depressed nasal bridge, Wide anterior fontanel, Feeding difficulties, Macroglossia, Umbilical hernia OMIM:275100
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Persistent open anterior fontanelle, Stippled chondral calcification, Micrognat... OMIM:614866
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Antev... ORPHA:950
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Cervical kyphosis, Microgna... OMIM:114290
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Nasal polyposis, Chronic sinusitis, Chronic rhinitis OMIM:617092
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Anteverted nares, Dental crowding, Kyphoscoliosis, Bulbous nose, Senso... OMIM:616354
Neurofaciodigitorenal Syndrome
Mandibular prognathia, Abnormality of the philtrum, Abnormal oral mucosa morphology, Hypoplasia o... ORPHA:2673
Cooper-Jabs Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Congenital diaphrag... ORPHA:1488
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... ORPHA:861
Robinow Syndrome, Autosomal Dominant 2
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... OMIM:616331
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Wide nasal bridge, Gingival overgrowth, Downturned corners of... OMIM:618729
Keipert Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Prominent nasal brid... ORPHA:2662
Aicardi Syndrome
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li... ORPHA:50
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Osteoporosis of vertebrae, Mul... OMIM:156510
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, High, narrow palat... ORPHA:444002
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Chronic otitis me... OMIM:614188
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Protruding ear, High palate, ... OMIM:249420
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micr... OMIM:108721
Mcdonough Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nose, Pectus excavatum, Micro... ORPHA:2471
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Optic nerve hypoplasia, Hearing impairment, Micrognathia, Hypoplasia of th... OMIM:620157
Ciliary Dyskinesia, Primary, 30
Nasal polyposis, Absent outer dynein arms, Nasal congestion, Recurrent otitis media, Chronic sinu... OMIM:616037
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Cornelia De Lange Syndrome 2
Thick eyebrow, Anteverted nares, Prominent nasal bridge, Limited elbow movement, Micrognathia, Sh... OMIM:300590
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, A... ORPHA:293939
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Micrognathia, Prominent nose, Pectus carinatum, High palate, Macrotia, Hyperplasia of... OMIM:620194
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... ORPHA:2325
Silver-Russell Syndrome Due To A Point Mutation
Syndactyly, Micrognathia, Cleft palate, Short 5th finger, Polydactyly, Small placenta, Ectrodacty... ORPHA:397590
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Bowel incontin... OMIM:616482
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Underdeveloped nasal alae, Microcephaly, Cleft palate, Webbed neck, Hydranencephaly, Short distal... OMIM:601355
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,... OMIM:614078
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Ab... OMIM:265900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Rhizomelia, Micrognathia, Abnormal rib morphology, Wide nasal bridg... ORPHA:93267
Temple-Baraitser Syndrome
Delayed eruption of teeth, Wide nose, Tented upper lip vermilion, Depressed nasal bridge, Antever... ORPHA:420561
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Notched primary central incisor, Low-set ears OMIM:620062
Symphalangism With Multiple Anomalies Of Hands And Feet
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... ORPHA:3246
Alopecia-Intellectual Disability Syndrome
Sparse scalp hair, Alopecia, Hearing impairment, Microcephaly, Abnormal nasal morphology, Split h... ORPHA:2850
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Phenobarbital Embryopathy
Mandibular prognathia, Microcephaly, Aplasia/Hypoplasia of fingers, Abnormal nasal base norpholog... ORPHA:1919
Ck Syndrome
Hyperactivity, Dental crowding, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia, A... OMIM:300831
Immunodeficiency 13
Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent otitis media, Recurrent ... OMIM:615518
Oculoskeletodental Syndrome
Depressed nasal bridge, Abnormality of the dentition, Hyperlordosis, Conductive hearing impairmen... ORPHA:557003
Intellectual Developmental Disorder, Autosomal Recessive 74
Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Brachydactyly OMIM:617169
Microcephaly-Capillary Malformation Syndrome
Wide nose, Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ears, Right ventricula... OMIM:614261
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Chung-Jansen Syndrome
Anteverted nares, Impulsivity, Micrognathia, Aggressive behavior, Feeding difficulties, Large ear... OMIM:617991
Phocomelia, Schinzel Type
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Protruding ... ORPHA:2879
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... OMIM:609945
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Hemivertebrae, Thoracic hemivertebrae,... OMIM:268310
Aarskog-Scott Syndrome
Joint laxity, Hyperextensibility of the finger joints, Anteverted nares, Cleft upper lip, Pectus ... OMIM:305400
Peroxisome Biogenesis Disorder 11A (Zellweger)
Anteverted nares, Depressed nasal bridge, Apnea, Wide anterior fontanel, Large fontanelles, Decre... OMIM:614883
Frontorhiny
Encephalocele, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Camptodactyly of finger, ... ORPHA:391474
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Abnormal axonemal organization of respiratory motile cilia, Nasal polypos... OMIM:613808
Tooth Agenesis, Selective, 9
Microdontia, Taurodontia, Selective tooth agenesis OMIM:617275
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... ORPHA:2027
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Narrow chest, ... ORPHA:1452
Orofaciodigital Syndrome Type 2
Micrognathia, Protruding ear, High palate, Conductive hearing impairment, Short tibia, Hamartoma ... ORPHA:2751
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Death in infancy, Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Protruding ear, Gas... ORPHA:1495
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
2-4 finger syndactyly, Sparse scalp hair, Sparse eyelashes, 1-4 finger syndactyly, Sparse eyebrow... OMIM:225280
Congenital Myopathy 19
Skeletal muscle atrophy, Posteriorly rotated ears, Facial hypotonia, Micrognathia, Depressed nasa... OMIM:618578
Lambotte Syndrome
Retrognathia, Atresia of the external auditory canal, Narrow mouth, Macrotia, Convex nasal ridge,... OMIM:245552
Acro-Renal-Mandibular Syndrome
Micrognathia, Short neck, Hemivertebrae, High palate, Low-set, posteriorly rotated ears, Hypoplas... ORPHA:958
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... ORPHA:488232
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Prominent nasal bridge, Kyphoscoliosis, Prominent nose, Carious teeth,... OMIM:214150
Marshall Syndrome
Thick upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent frontal... OMIM:154780
Kagami-Ogata Syndrome
Long clavicles, Anteverted nares, Depressed nasal bridge, Diastasis recti, Micrognathia, Hypoplas... OMIM:608149
X-Linked Mandibulofacial Dysostosis
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Microcephaly, Sensorineu... ORPHA:1131
Iniencephaly
Encephalocele, Dandy-Walker malformation, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlord... ORPHA:63259
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Hyperlordosis, Abnormal thumb morpholo... ORPHA:2511
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Prominent nasal bridge, Pectus excavatum, Hypoplasia of the maxilla, Kypho... OMIM:300676
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... OMIM:123500
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate, Diaphragmatic eventration, Convex nasa... OMIM:600252
Ritscher-Schinzel Syndrome 3
Death in infancy, Thin upper lip vermilion, Anteverted nares, Micrognathia, Wide anterior fontane... OMIM:619135
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Large posterior fontanelle, Abnormal pinna morphology, Depressed nasal bridge, Hamar... OMIM:617925
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Micrognathia, Paucity of anterio... OMIM:611890
Alg9-Cdg
Villous atrophy, Micrognathia, Large fleshy ears, Vomiting, Gastroesophageal reflux, Abnormal bon... ORPHA:79328
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Anteverted nares, Depressed nasal bridge, P... ORPHA:264450
Neu-Laxova Syndrome 1
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... OMIM:256520
Congenital Absence Of Upper Arm And Forearm With Hand Present
Syndactyly, Cleft palate, Upper limb phocomelia, Abnormality of the neck, Stillbirth, Polydactyly... ORPHA:294975
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Prot... OMIM:190350
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Hyperactivity, Anteverted nares, Micrognathia, Abnormal repetitive mannerism... ORPHA:352490
Johnson Neuroectodermal Syndrome
Choanal atresia, Facial palsy, Carious teeth, Bulbous nose, Anosmia, Cleft palate, Protruding ear... ORPHA:2316
Osteoglosphonic Dysplasia
Abnormal clavicle morphology, Anteverted nares, Choanal atresia, Rhizomelia, Micrognathia, Cranio... ORPHA:2645
Codas Syndrome
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Depressed nasal bridge, ... ORPHA:1458
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Anteverted nares, Uplifted earlobe, Micrognathia, Feeding difficulties ... OMIM:618548
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Short metacarpal, Tarsal synostosis, Diastema, Deep philtrum, Talon cusp, Opti... OMIM:605282
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Abnormal ri... OMIM:608154
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Short foot, Microtia, High palate, Jo... OMIM:248910
Three M Syndrome 2
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte... OMIM:612921
Microhydranencephaly
Prominent nasal bridge, Microcephaly, Macrotia, Hypoplasia of the brainstem, Talipes equinovarus,... OMIM:605013
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Low-set, posteriorly rotated ears, Abnormality of the nose, Micrognathia, Whistling appearance, H... ORPHA:1150
10Q22.3Q23.3 Microduplication Syndrome
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... ORPHA:276422
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Absent outer dynein arms, A... OMIM:244400
Blepharophimosis-Impaired Intellectual Development Syndrome
Flexion contracture, Short philtrum, Widely spaced teeth, Microdontia, Abnormal repetitive manner... OMIM:619293
Ciliary Dyskinesia, Primary, 19
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... OMIM:614935
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Mandibular prognathia, Narrow nasal bridge, Micrognathia, Aplasia/Hypoplasia of toe, Kyphosis, Ap... ORPHA:3082
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Abnormal pinna morphology, Micrognathia, Fe... ORPHA:3338
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Raine Syndrome
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, Choanal stenosis, High palate, M... OMIM:259775
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... OMIM:141400
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Transaldolase Deficiency
Depressed nasal bridge, Wide anterior fontanel, Asthma, Deep philtrum, Wide mouth, Thin vermilion... OMIM:606003
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Nasal polyposis, Chronic rhinitis, Recurrent sinusitis OMIM:608647
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Pai Syndrome
Encephalocele, Nasal polyposis, Depressed nasal bridge, Median cleft lip, Cleft palate, Abnormal ... ORPHA:1993
Fibrochondrogenesis
Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Wide anterior fontanel, Hearin... ORPHA:2021
Trisomy 13
Abnormal eyelash morphology, High, narrow palate, Postaxial hand polydactyly, Kyphosis, Sensorine... ORPHA:3378
Ciliary Dyskinesia, Primary, 22
Nasal polyposis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusitis, Recurrent oti... OMIM:615444
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Broad nasal tip, Feeding difficulties in infancy, Aggressive behavior, Open mouth, Self-injurious... OMIM:613670
Hartsfield Syndrome
Syndactyly, Wide nose, Posteriorly rotated ears, Craniosynostosis, Alobar holoprosencephaly, Micr... OMIM:615465
Mpdu1-Cdg
Wide anterior fontanel, Absence of acoustic reflex, Prominent frontal sinuses, Feeding difficulti... ORPHA:79323
Cerebrooculofacioskeletal Syndrome 3
Low-set ears, Arthrogryposis multiplex congenita, Cleft palate, Micrognathia OMIM:616570
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Pectus carinatum, High palate, Short... OMIM:212720
Seckel Syndrome 1
11 pairs of ribs, Hyperactivity, Dental crowding, Selective tooth agenesis, Abnormal pinna morpho... OMIM:210600
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Micrognathia, Type 2 muscle fiber atrophy, High palate, Scoliosis, Dysphagia, Weakn... OMIM:608930
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... ORPHA:989
Meckel Syndrome, Type 1
Occipital encephalocele, Short neck, Micrognathia, Lobulated tongue, Agenesis of corpus callosum,... OMIM:249000
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... ORPHA:2462
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Congenital diaph... OMIM:614437
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Abnormal pinna morphology, Intestinal malrotation, Micrognathia, Pectus excavatum, Underdeveloped... ORPHA:77300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Bilateral... OMIM:617802
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus ORPHA:2476
Cofs Syndrome
Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Abnormal nasal ... ORPHA:1466
Holoprosencephaly 9
Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft upper lip, Hy... OMIM:610829
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Depressed nasal b... ORPHA:2025
Donnai-Barrow Syndrome
Posteriorly rotated ears, Intestinal malrotation, Depressed nasal bridge, Broad nasal tip, Wide a... OMIM:222448
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Hydrocephalus, Wide nasal bridge, Sten... ORPHA:1516
Saul-Wilson Syndrome
Narrow nasal bridge, Micrognathia, Wide anterior fontanel, Sensorineural hearing impairment, Made... OMIM:618150
Lambert Syndrome
Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly ORPHA:1296
Perching Syndrome
Respiratory distress, Depressed nasal bridge, Feeding difficulties, High palate, Scoliosis, Dysph... OMIM:617055
Coffin-Siris Syndrome 6
Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis, Broad nasal tip,... OMIM:617808
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost... OMIM:251450
Split-Hand/Foot Malformation 4
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... OMIM:605289
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Agenesis of cerebellar vermis, Microcephaly, Hydrocephal... OMIM:611134
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sensorineural hearing impairment, G... ORPHA:3019
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Low-set, posteriorly rotated ears, Sparse scalp hair, Anteverted nares, Hearing impairment, Cario... ORPHA:2701
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... ORPHA:1113
Acrocephalopolydactyly
Genu recurvatum, Depressed nasal ridge, Microtia, Protuberant abdomen, Premature closure of fonta... ORPHA:221054
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Increased laxity of ankles, Foot oligodactyly, Short tibia, Ar... ORPHA:93323
Smith-Kingsmore Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Wide anterior fontanel, Open mouth, Feeding dif... OMIM:616638
Cerebellar-Facial-Dental Syndrome
Anteverted nares, Foot joint contracture, Micrognathia, Dental malocclusion, Wide nasal bridge, A... ORPHA:444072
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Death in ... OMIM:184260
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Feeding difficult... OMIM:180849
Schisis Association
Encephalocele, Spina bifida, Micromelia, Microcephaly, Anencephaly, Tracheoesophageal fistula, Cl... ORPHA:63862
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathia... ORPHA:480907
Adenylosuccinate Lyase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Anteverted nares, Low-set ears, Long philtrum,... ORPHA:46
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Thick nasal alae, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Posteriorly rotat... ORPHA:293725
Cleft Velum
Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... ORPHA:99772
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Acrocallosal Syndrome
Wide anterior fontanel, Sensorineural hearing impairment ORPHA:36
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyly, Cleft palate, C... DECIPHER:46
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... ORPHA:1892
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Hyperactivity, Depressed nasal bridge, Anteverted nares, Micrognathia, Kypho... OMIM:615834
Mend Syndrome
Hyperactivity, Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia, Aggress... ORPHA:401973
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Congenital hip dislocation, Congenital diaphragmati... ORPHA:96170
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Aplasia/Hypoplasia ... ORPHA:193
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Wide anterior fontanel, Platyspondyly, Atresia of the external auditory canal OMIM:601356
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... OMIM:601812
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Wide anterior fontanel, ... OMIM:231680
Robinow Syndrome, Autosomal Recessive 2
Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Broad nasal tip, Micrognathia, Abn... OMIM:618529
Greenberg Dysplasia
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... OMIM:215140
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Exaggerated cupid's bow, Micrognathia,... ORPHA:261120
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Hypopla... ORPHA:228396
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Braddock-Carey Syndrome 1
U-Shaped upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Pierre-R... OMIM:619980
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Slender nose, Thin upper lip vermilion, Skeletal muscl... OMIM:615419
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Wide nasal b... OMIM:106260
Synpolydactyly 1
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... OMIM:186000
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Wide nasal bridge, Downturned corners of mouth, Wide mouth, Everted low... OMIM:618067
Ceroid Lipofuscinosis, Neuronal, 10
Microcephaly, Split hand, Wide nasal bridge, Cerebral atrophy, Low-set ears, Neonatal death OMIM:610127
Craniosynostosis 3
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Partial agenesis of th... OMIM:615314
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Micrognathia, Rib fusion, Abnormal rib morphology, Orofaci... ORPHA:1988
6Q16 Microdeletion Syndrome
Abnormal ear morphology, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal thorax ... ORPHA:171829
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... OMIM:113650
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Abnormal den... ORPHA:1133
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Flat glenoid fos... OMIM:224690
Turnpenny-Fry Syndrome
Mandibular prognathia, Dental crowding, Feeding difficulties in infancy, Downturned corners of mo... OMIM:618371
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Hyperextensibility of the finger joints, Joint hypermobility, Hyperextensibili... OMIM:130000
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar hyperlordosis, Depre... OMIM:253200
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... OMIM:221300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Tented upper lip vermilion, Flexion contracture, Gait ataxia, High palate, ... OMIM:619383
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Broad nasal tip, Repetitive compulsive behavior, Flexion contracture, Abno... ORPHA:391372
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Posteriorly rotated ears, Thick nasal alae, Episodic tachypnea, Micrognathia... ORPHA:163961
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, P... OMIM:165800
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Short thumb, Flexion contracture of the 2nd toe, Scoliosis, Tooth malpo... ORPHA:2712
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Wide anterior fontanel, Death in childhood, Pulmonary arterial hypertension, Le... OMIM:619064
Atelosteogenesis, Type I
Laryngeal stenosis, Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, ... OMIM:108720
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Death in infancy, Macrotia, Agitation OMIM:272300
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Short metatarsal... OMIM:101800
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Adenoiditis, Flexion contracture, Abnormal form of the vertebral bo... ORPHA:581
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Malar prominence, Pectus excavatum, Mic... ORPHA:2522
Autosomal Recessive Robinow Syndrome
Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ... ORPHA:1507
Lipoid Proteinosis
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... ORPHA:530
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Micrognathia, Hydrocephalus, Large fo... ORPHA:171839
Andersen-Tawil Syndrome
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... ORPHA:37553
Restrictive Dermopathy 1
Micrognathia, Flexion contracture, Neonatal death, Depressed nasal bridge, Narrow nasal ridge, An... OMIM:275210
Developmental Delay With Variable Neurologic And Brain Abnormalities
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Pectus excavatum, Knee flexion... OMIM:619694
Diaphanospondylodysostosis
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... OMIM:608022
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Hypoplastic n... OMIM:186500
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... OMIM:617468
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip, Osteolysis, Short dista... ORPHA:2776
Otofaciocervical Syndrome
Abnormal clavicle morphology, Scapular winging, Anteverted nares, Down-sloping shoulders, Depress... ORPHA:2792
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... OMIM:602471
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Peg-... OMIM:610706
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, Hypoplasia of the... OMIM:600920
Hao-Fountain Syndrome
Large fontanelles, Delayed cranial suture closure, Low-set ears, Aggressive behavior OMIM:616863
Chromosome 15Q26-Qter Deletion Syndrome
Micrognathia, Microcephaly, Wide nasal bridge, Short middle phalanx of finger, Talipes equinovaru... OMIM:612626
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... OMIM:218600
Ring Chromosome 13 Syndrome
Aplasia/Hypoplasia of the thumb, Alopecia, Anteverted nares, Depressed nasal bridge, Posteriorly ... ORPHA:96176
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of the premaxilla, Intestinal malrot... ORPHA:2166
Oculoauriculofrontonasal Syndrome
Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Micrognathia, Cleft lip, Cl... ORPHA:398156
Odontochondrodysplasia
Delayed eruption of teeth, Death in infancy, Depressed nasal bridge, Micromelia, Joint hyperflexi... ORPHA:166272
Brachydactyly-Preaxial Hallux Varus Syndrome
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met... ORPHA:1278
Ogden Syndrome
Large posterior fontanelle, Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Protr... OMIM:300855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Megalencephaly, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosum, Pol... OMIM:615938
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Delayed... OMIM:277440
Brachydactyly, Type A1
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... OMIM:112500
Mitochondrial Complex I Deficiency, Nuclear Type 18
Wide anterior fontanel, Respiratory failure, Death in infancy, Feeding difficulties OMIM:618240
Achondrogenesis Type 1A
Anteverted nares, Recurrent fractures, Micrognathia, Abnormal enchondral ossification, Abdominal ... ORPHA:93299
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Fontaine Progeroid Syndrome
Mandibular prognathia, Micrognathia, High, narrow palate, Anteriorly placed anus, Oligodontia, Ga... OMIM:612289
Microphthalmia, Syndromic 8
Mandibular prognathia, Split foot, Cleft palate, Microcephaly OMIM:601349
Aicardi Syndrome
Prominence of the premaxilla, Anteverted nares, Block vertebrae, Spina bifida, Missing ribs, Clef... OMIM:304050
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly OMIM:190680
Crossed Polysyndactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Hearing abnormality, ... ORPHA:2935
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Wide anterior fontanel, Depressed nasal bridge, Feeding difficulties OMIM:617241
Muenke Syndrome
Broad hallux, Hearing impairment, Capitate-hamate fusion, Sensorineural hearing impairment, Denta... OMIM:602849
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Low-set, posteriorly rotated ears, Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger... ORPHA:306542
Hall-Riggs Syndrome
U-Shaped upper lip vermilion, Anteverted nares, Depressed nasal bridge, Prominent nose, Kyphosis,... OMIM:234250
Nasopalpebral Lipoma-Coloboma Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears OMIM:167730
Osteogenesis Imperfecta, Type Xix
Osteopenia, Rhizomelia, Recurrent fractures, Pectus excavatum, Multiple prenatal fractures, Verte... OMIM:301014
Congenital Neuronal Ceroid Lipofuscinosis
Microcephaly, Split hand, Wide nasal bridge, Neuronal loss in the cerebral cortex, Aplasia/Hypopl... ORPHA:168486
Robin Sequence With Cleft Mandible And Limb Anomalies
Prominent nose, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate, Short tibia... OMIM:268305
Stapes Ankylosis With Broad Thumbs And Toes
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... OMIM:184460
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Broad nasal tip, Micrognathia, Cleft hard palate... ORPHA:166016
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
Brachydactyly, Type A1, C
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... OMIM:615072
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding, Micrognathia... OMIM:615761
Holoprosencephaly
Short neck, Synophrys, Depressed nasal ridge, Abnormal form of the vertebral bodies, Absent nares... ORPHA:2162
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Open bite, Kyphosis, De... ORPHA:61
Fetal Akinesia Deformation Sequence 2
Tented upper lip vermilion, Micrognathia, Flexion contracture, Wide nasal bridge, Cleft palate, H... OMIM:618388
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse... OMIM:601957
Metatropic Dysplasia
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Micromelia, A... ORPHA:2635
3M Syndrome
Congenital hip dislocation, Micromelia, Increased vertebral height, Protruding ear, Enlarged thor... ORPHA:2616
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Persistent open anterior fontanelle, Wormian... ORPHA:1798
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Death in infancy, Lumbar hyperlordosis, ... OMIM:256050
Chromosome 6Q11-Q14 Deletion Syndrome
Joint laxity, Thin upper lip vermilion, Prominent nasal bridge, Micrognathia, Broad nasal tip, Fe... OMIM:613544
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Down-sloping shoulders, Abnormality of the nose, Carious teeth... ORPHA:1390
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Pr... OMIM:236680
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Conductive... ORPHA:2215
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Anteverted nares, Prominent nasal bridge, Dental crowding, Underdevelo... OMIM:618825
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Natal tooth, Death in infancy, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, L... OMIM:616901
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal... ORPHA:93307
Developmental And Speech Delay Due To Sox5 Deficiency
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, Lum... ORPHA:313892
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Arthropathy, Short middle phalanx of finger, Radial deviation of finger, ... OMIM:606835
Craniodigital-Intellectual Disability Syndrome
Narrow nasal bridge, Finger syndactyly, Thick hair, Abnormal hair pattern, Micrognathia, Long eye... ORPHA:1514
Gapo Syndrome
Mandibular prognathia, Abnormal clavicle morphology, Delayed eruption of teeth, Anteverted nares,... ORPHA:2067
Split-Foot Malformation With Mesoaxial Polydactyly
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Sensorineural hea... OMIM:616890
Distal Deletion 12Q
Micrognathia, High, narrow palate, Self-mutilation, Hyperactivity, Anteverted nares, Wide anterio... ORPHA:96149
Qazi-Markouizos Syndrome
Prominent nasal bridge, Abdominal distention, High, narrow palate, Hypoplasia of teeth, Chronic c... ORPHA:3010
Granulomatosis With Polyangiitis
Subglottic stenosis, Sinusitis, Oral ulcer, Concave nasal ridge, Chronic otitis media, Nasal muco... OMIM:608710
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick nasal alae, Hypoplasti... ORPHA:79345
Cerebellofaciodental Syndrome
Aggressive behavior, Dental malocclusion, Shortening of all distal phalanges of the fingers, Genu... OMIM:616202
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ... ORPHA:534
Mucolipidosis Ii Alpha/Beta
Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Depressed nasa... OMIM:252500
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Intestinal pseudo-obstruction, Hearing impairment, Short neck, Kyphosi... OMIM:309900
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Protr... ORPHA:2013
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... ORPHA:1453
48,Xyyy Syndrome
Depressed nasal bridge, Impulsivity, Aggressive behavior, Recurrent upper respiratory tract infec... ORPHA:99329
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Macrodontia, High, narrow palate, Sensorineural hearing impairment, Ta... ORPHA:3214
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial... ORPHA:1427
Intellectual Developmental Disorder, Autosomal Dominant 65
Short palm, Prominent metopic ridge, Tented upper lip vermilion, Anteverted nares, Posteriorly ro... OMIM:619320
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Fetal Minoxidil Syndrome
Low-set, posteriorly rotated ears, Umbilical hernia, Depressed nasal bridge, Micrognathia ORPHA:1918
2Q32Q33 Microdeletion Syndrome
Anteverted nares, Prominent nasal bridge, Dental crowding, Micrognathia, Aggressive behavior, Cle... ORPHA:251019
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxi... OMIM:166300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Micrognathia, Bulbous nose,... OMIM:613604
Meckel Syndrome
Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, Aplasia/Hypoplasia of... ORPHA:564
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Cerebellar vermis hypoplasia, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finge... OMIM:620073
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Cerebral calcification, Arachnodactyly, Carious teeth, P... ORPHA:377
Polydactyly, Preaxial Ii
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... OMIM:174500
Brachycephaly, Trichomegaly, And Developmental Delay
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... OMIM:617412
Taurodontism
Taurodontia OMIM:272700
Mandibulofacial Dysostosis, Guion-Almeida Type
Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Deep philtrum, Overfolded he... OMIM:610536
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Micrognathia, Hyperlordosis, Furrowed ... ORPHA:1387
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Anteverted nares, Depressed nasal bridge, Choanal atresia, Prominent nasal bridge, P... OMIM:123790
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge... OMIM:601499
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Camptodactyly of finger, Abnormality of the dentition, Sensori... ORPHA:3220
Cooks Syndrome
Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd... ORPHA:1487
Monosomy 18P
Alopecia, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Microcephaly, Wide nasal bridg... ORPHA:1598
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... OMIM:617102
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Oligodontia, Aplasia of the distal phalanx of the 5th finger, Promine... ORPHA:364577
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Abnormal pinna morphology, Joint stiffness ORPHA:2871
Marshall Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Abnormality of... ORPHA:560
Diprosopus
External ear malformation, Anencephaly, Cleft palate, Abnormality of the nose ORPHA:1681
Emanuel Syndrome
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... OMIM:609029
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep... ORPHA:2831
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... OMIM:614856
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ... ORPHA:96334
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... OMIM:619122
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Anteriorly placed anus, Gastroesophageal reflux, Choana... ORPHA:95699
Wilson-Turner Syndrome
Thin upper lip vermilion, Uplifted earlobe, Malar prominence, Broad nasal tip, Micrognathia, Smal... ORPHA:3459
Stickler Syndrome, Type I
Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Depressed ... OMIM:108300
Auriculocondylar Syndrome
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... ORPHA:137888
Temple Syndrome
Wide nose, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hydr... OMIM:616222
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... ORPHA:85169
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Cleft upper lip, Abdominal distention, Depressed nasal ri... OMIM:613885
Wrinkly Skin Syndrome
Osteopenia, Microretrognathia, Delayed eruption of teeth, Congenital hip dislocation, Smooth phil... OMIM:278250
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... OMIM:602483
Meier-Gorlin Syndrome 7
Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocated radial head, Joint... OMIM:617063
Axenfeld-Rieger Syndrome
Anal stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Everted lowe... ORPHA:782
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, ... OMIM:213980
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Anteverted nares, Impulsivity, Micrognathia, Pectus excavatum, High, n... ORPHA:96092
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Micrognathia, Glossoptosis, Vertebral segmentation defect, High p... OMIM:611209
Gorham-Stout Disease
Osteopenia, Abnormality of the temporomandibular joint, Torticollis, Osteomyelitis, Osteolysis in... ORPHA:73
Temtamy Syndrome
Brachydactyly, Micrognathia, Short toe, Aplasia/Hypoplasia of the corpus callosum, Low-set ears, ... ORPHA:1777
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Depressed nasal bridge, Conductive hearin... OMIM:156550
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Anteverted nares, Short neck, Protruding tongue, Hydrocephalus, Sensorineural hearing impairment,... OMIM:612938
Eec Syndrome
Aplasia/Hypoplasia of the thumb, Choanal atresia, Abnormal dental enamel morphology, Carious teet... ORPHA:1896
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Oligodontia, C... ORPHA:2095
Microcephalic Primordial Dwarfism, Montreal Type
Low-set, posteriorly rotated ears, Micrognathia, Carious teeth, Open bite, Kyphosis, Congenital p... ORPHA:2617
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Restlessness, Feeding difficulties in infancy, Sensorineural hearing impairm... OMIM:618379
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Tapered finger, Sensorineural hearing impairment, Split hand, Split foot, Scoliosis OMIM:220600
Brachydactyly, Type A3
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... OMIM:112700
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Nablus Mask-Like Facial Syndrome
Hypoplasia of the maxilla, High palate, Small earlobe, Depressed nasal bridge, Anteverted nares, ... OMIM:608156
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Branchial fistula, Arachnodactyl... ORPHA:261330
Sotos Syndrome
Mandibular prognathia, Joint laxity, Depressed nasal bridge, Anteverted nares, Posteriorly rotate... OMIM:117550
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Anteverted nares, Abnormal pinna morphology, Persistence of p... OMIM:610253
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Finger syndactyly, Alopecia, Abnormal dental enamel morphology, ... ORPHA:2092
Osteogenesis Imperfecta, Type Vii
Osteopenia, Death in infancy, Wide cranial sutures, Recurrent fractures, Protrusio acetabuli, Mul... OMIM:610682
Cerebrofacioarticular Syndrome
Osteopenia, Irregular dentition, Anal stenosis, Tracheomalacia, Micrognathia, Hypoplasia of the m... ORPHA:314679
Split-Hand/Foot Malformation 6
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly OMIM:225300
Treacher Collins Syndrome 4
Micrognathia, Cleft palate, Choanal stenosis, Conductive hearing impairment, Malar flattening OMIM:618939
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... OMIM:305620
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Sensorineural hear... OMIM:109120
Cleft Palate, Deafness, And Oligodontia
Oligodontia of primary teeth, Cleft soft palate, Short hallux, No permanent dentition, Bilateral ... OMIM:216300
Perlman Syndrome
Anteverted nares, Posteriorly rotated ears, Micrognathia, High, narrow palate, Open mouth, Wide n... ORPHA:2849
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Prominent metopic ridge, Posteriorly rotated ears, Ataxia, Craniosynostosis, Microgna... OMIM:266920
Facial Paresis, Hereditary Congenital, 3
Tented upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, M... OMIM:614744
Cardiocranial Syndrome, Pfeiffer Type
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... ORPHA:2872
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral ... OMIM:166220
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... ORPHA:2769
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Hearing impairment, Kyphosis, Flexion c... ORPHA:90322
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... OMIM:615042
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Macrotia OMIM:613576
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Large earlobe, Short columella, ... OMIM:155050
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Micro... OMIM:618870
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Hyperactivity, Micrognathia, Congenital sensorineural hearing impairme... ORPHA:73272
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Depressed nasal bridge, Rhizomelia, Kypho... OMIM:215100
Grant Syndrome
Joint dislocation, Depressed nasal bridge, Micrognathia, Open bite, Abnormal cortical bone morpho... ORPHA:2097
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger OMIM:313350
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Cleft... OMIM:611561
Chromosome 18Q Deletion Syndrome
Mandibular prognathia, Prominent nose, Downturned corners of mouth, Choanal stenosis, Short philt... OMIM:601808
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Hall-Riggs Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Thick hair, Promi... ORPHA:2107
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Small hand, Abnormal antihelix morphology, Abnormal ... ORPHA:952
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Protrudin... OMIM:616788
Warburg Micro Syndrome 1
Anteverted nares, Kyphoscoliosis, Micrognathia, Optic atrophy, Wide nasal bridge, Osteoporosis, T... OMIM:600118
Orofaciodigital Syndrome Type 4
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Depressed nasal ridge, Abnormal... ORPHA:2753
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Hydrocephalus, Congenital, 3, With Brain Anomalies
Redundant neck skin, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Cerebellar agenesis... OMIM:617967
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Micrognathia, Hydrocephalus, Depressed nasal ridge, Thin ribs, Wide... ORPHA:163966
Gombo Syndrome
Clinodactyly, Microcephaly, Radial deviation of finger, Brachydactyly OMIM:233270
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... ORPHA:828
Charge Syndrome
Aqueductal stenosis, Hemivertebrae, Hypoplasia of the semicircular canal, Holoprosencephaly, Comp... ORPHA:138
Elsahy-Waters Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, High palate, Bifid uvul... OMIM:211380
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Cond... OMIM:117650
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Micrognathia, Beaded ribs, Multiple prenatal fractures, Flexion contracture, Large fl... OMIM:616897
Foxg1 Syndrome Due To 14Q12 Microdeletion
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Depressed nasal bridg... ORPHA:261144
6Q25 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Micrognath... ORPHA:251056
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Micrognathia, Short neck, High, narrow pala... OMIM:620156
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Tracheomalacia, Micrognath... ORPHA:513456
Acrofacial Dysostosis, Catania Type
Microretrognathia, Short palm, Finger syndactyly, Brachydactyly, Low-set, posteriorly rotated ear... ORPHA:1786
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vertebral segmentation defect... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Vertebral segmentation defect... ORPHA:352665
Arboleda-Tham Syndrome
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Long thorax, Short philtrum,... OMIM:616268
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... ORPHA:1891
Trichorhinophalangeal Syndrome, Type Iii
Short metacarpal, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epiphysis,... OMIM:190351
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Non-midline cleft lip, Cleft palate, Abnormal form of the verteb... ORPHA:3429
Parenti-Mignot Neurodevelopmental Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Micrognathia, Aggressive beha... OMIM:619873
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Thickened nuchal skin fold, Brachydactyly, Posteriorly rotated ears, Prominent nasal bridge, Camp... ORPHA:2083
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Micromelia, Short neck, Aplastic clavicle, ... OMIM:616546
Thiemann Disease, Familial Form
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly ORPHA:3314
Brachydactyly, Type A2, With Microcephaly
Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti... OMIM:211369
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia,... ORPHA:2063
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Wormian bones, Recurrent fractures, Multiple prenatal fractures, Wide a... OMIM:610915
Otopalatodigital Syndrome Type 2
Micrognathia, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral segmentatio... ORPHA:90652
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... ORPHA:50814
Barber-Say Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... OMIM:209885
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Nasal polyposis, Sinusitis, Myositis, Eosinophilia, Malabsorption, Arthri... ORPHA:183
Distal Monosomy 7Q36
Micrognathia, Pectus excavatum, Bulbous nose, Non-midline cleft lip, Optic atrophy, Cleft palate,... ORPHA:1636
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, High palate, Bifid uvula, Median cleft lip OMIM:155145
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thin upper lip vermilion, Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, Bulbo... OMIM:616549
Anencephaly 2
Anencephaly, Bifid nose, Median cleft palate OMIM:619452
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus
Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla OMIM:613671
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Kyphos... ORPHA:3409
Branchioskeletogenital Syndrome
Mandibular prognathia, Attached earlobe, Hypoplasia of the maxilla, Upper limb peromelia, Anterio... ORPHA:1299
Van Bogaert-Hozay Syndrome
Abnormal pinna morphology, Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalan... OMIM:277150
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:312150
Nasopalpebral Lipoma-Coloboma Syndrome
Wide nose, Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper r... ORPHA:2399
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Craniofrontonasal Dysplasia
Depressed nasal ridge, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hall... ORPHA:1520
Trisomy 9P
Dental crowding, Abnormal nasal morphology, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... ORPHA:236
Loeys-Dietz Syndrome 5
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate,... OMIM:615582
Neural Tube Defects, Susceptibility To
Asymmetry of spinal facet joints, Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta OMIM:182940
Spastic Paraplegia 16, X-Linked
Restlessness, Facial hypotonia, Hypoplasia of the maxilla, Lower limb amyotrophy, Lower limb musc... OMIM:300266
Distal 22Q11.2 Microduplication Syndrome
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, High palate, Camptoda... ORPHA:261337
Atelosteogenesis Type Ii
Laryngeal stenosis, Cervical kyphosis, Micromelia, Micrognathia, Narrow chest, Hypoplastic cervic... ORPHA:56304
Acrofacial Dysostosis 1, Nager Type
Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognath... OMIM:154400
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla OMIM:618587
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Micrognathia, Flexion contracture, Patellar hypoplasia, Protruding ear, Scoliosis, Macrotia, Conv... OMIM:251240
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dislocated radi... OMIM:612350
Pierpont Syndrome
Wide nose, Posteriorly rotated ears, Broad nasal tip, Feeding difficulties, Large fleshy ears, Br... OMIM:602342
Waardenburg Syndrome, Type 3
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Prominent nasal bridge, Camptodac... OMIM:148820
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Malabsorption, Abdominal distention, Gastr... OMIM:613662
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... OMIM:300244
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing ... OMIM:300946
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Acrofacial Dysostosis, Palagonia Type
Finger syndactyly, Sparse eyelashes, Posteriorly rotated ears, Micrognathia, Short neck, High, na... ORPHA:1787
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Brachydactyly, Kyphosis, Dental malocclusion, Hip dysplasia, Scoliosis, Hy... ORPHA:1858
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Finger syndactyly, Preaxial hand poly... ORPHA:887
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Hallux valgus, Brachydactyly, Broad hallux, Prominent nasal bridge, Hearing impairment, Micrognat... OMIM:618659
Focal Dermal Hypoplasia
Cleft ala nasi, Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, ... OMIM:305600
Pfeiffer Syndrome
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br... ORPHA:710
Diamond-Blackfan Anemia 10
Posteriorly rotated ears, Choanal atresia, Congenital diaphragmatic hernia, Micrognathia, Morgagn... OMIM:613309
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Short neck, Micrognathia, Abnormal form of the vertebral bodies, Hol... ORPHA:818
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Broad nasal tip, Abnormal p... ORPHA:1830
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Choanal atresia, Sagittal craniosyn... OMIM:610199
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Lobulated tongue, Narrow chest, Short tibia, Unicoronal synostosis, Encephalocele... OMIM:616300
Polydactyly, Postaxial, Type A1
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... OMIM:174200
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Antev... ORPHA:314655
Limb Body Wall Complex
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... ORPHA:2369
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... OMIM:620114
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition ORPHA:2026
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Wide cranial sutures, Aggressive behavior, Dental malocclusion, Wide na... OMIM:619149
Laron Syndrome
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... ORPHA:633
Acrodysostosis 2 With Or Without Hormone Resistance
Mandibular prognathia, Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatars... OMIM:614613
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal... OMIM:300048
Cleidocranial Dysplasia 1
Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S... OMIM:119600
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Abnormal form of the verte... ORPHA:750
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... OMIM:618167
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger ORPHA:1471
Pseudoleprechaunism Syndrome, Patterson Type
Kyphoscoliosis, Prominent nose, Abnormal mandible condylar process morphology, Flat acetabular ro... ORPHA:2976
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, E... OMIM:617201
Cenani-Lenz Syndrome
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Protruding ear, Short phi... ORPHA:3258
Burn-Mckeown Syndrome
Mandibular prognathia, Prominent nasal bridge, Choanal atresia, Micrognathia, Underdeveloped nasa... OMIM:608572
Distal Deletion 10P
Low-set, posteriorly rotated ears, Micrognathia, Joint stiffness, Hearing abnormality, Non-midlin... ORPHA:1580
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un... OMIM:615866
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... ORPHA:199302
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger OMIM:186100
Congenital Disorder Of Glycosylation, Type If
Death in infancy, Ataxia, Wide anterior fontanel, Flexion contracture, Feeding difficulties, Thin... OMIM:609180
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Mandibular prognathia, Downturned corners of mouth, High palate, Widely spaced teeth, Hyperactivi... ORPHA:369891
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Genu recurvatum, Kyphoscoliosis, Malar prominence, Split hand, Cerebral atrophy, Talipes equinovarus OMIM:604168
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Attached earlobe, Micrognathia, Short neck, Underdeveloped nasal alae, Dental malocclusion, Low-s... ORPHA:436245
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... ORPHA:40366
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Conductive hearing impai... OMIM:300373
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Mandibular prognathia, Depressed nasal bridge, Sandal gap, Abnormal pinna morphology, Kyphosis, B... OMIM:300354
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... OMIM:112800
Crisponi/Cold-Induced Sweating Syndrome 1
Short palm, Wide nose, Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, Cari... OMIM:272430
Distal Duplication 18Q
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Prominent nasal bridge, Mic... ORPHA:1716
3Mc Syndrome 1
Dental crowding, Cleft upper lip, Wide anterior fontanel, Cleft lip, Cleft palate, Radioulnar syn... OMIM:257920
Frontoocular Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Pectus excavatum, Narrow philtrum... OMIM:605321
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Widely spaced teeth... OMIM:601216
Clark-Baraitser Syndrome
Thin upper lip vermilion, Hyperactivity, Anteverted nares, Depressed nasal bridge, Exaggerated cu... OMIM:617752
Bainbridge-Ropers Syndrome
Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge... OMIM:615485
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Craniofacial hyperostosis, Skeletal muscle atrophy, Abnormal pinna morphology, Prominent nasal br... ORPHA:3068
Costello Syndrome
Hyperextensibility of the finger joints, Posteriorly rotated ears, Anteverted nares, Limited elbo... OMIM:218040
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Micrognathia, Bulbous nose, Wide nasal bridge, Feeding difficulties, Thin v... ORPHA:261304
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Compulsive behaviors, Ab... OMIM:617061
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Large posterior fontanelle, Depressed nasal bridge, Feeding difficulties in... ORPHA:226313
Suleiman-El-Hattab Syndrome
Microretrognathia, Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal... OMIM:618950
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micrognathia, Depressed nasal ridge, Knee flexion contracture, Abnormal calcification of the carp... OMIM:271665
Ciliary Dyskinesia, Primary, 42
Nasal polyposis, Chronic rhinitis, Recurrent sinusitis OMIM:618695
Intellectual Developmental Disorder, X-Linked 21
Mandibular prognathia, Hyperactivity, Tented upper lip vermilion, Dental crowding, Uplifted earlo... OMIM:300143
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathi... ORPHA:2484
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Synophrys, Abnormal pinna morphology, Brachydactyly OMIM:612001
Brachydactyly, Type E2
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Kabuki Syndrome 2
Joint laxity, Natal tooth, Broad nasal tip, Micrognathia, Lower lip pit, Cupped ear, Dental maloc... OMIM:300867
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ... OMIM:608940
Ciliary Dyskinesia With Defective Radial Spokes
Nasal polyposis, Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis OMIM:242670
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Hip contracture, Ankle flexion contracture, Micrognathia, Respiratory insuf... ORPHA:1143
3C Syndrome
Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Aplasia/Hypoplasia of the cerebellu... ORPHA:7
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly, Microcephaly OMIM:241000
Antley-Bixler Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Choanal atresia, Camptodactyly of finger, Re... ORPHA:83
Stickler Syndrome, Type Ii
Arthropathy, Depressed nasal bridge, Anteverted nares, Micrognathia, High, narrow palate, Sensori... OMIM:604841
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Short neck, Metaphyseal widening, Low anterior hairline, Coxa vara, Metaphyseal cupping of metaca... OMIM:300232
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Sensorineural hearing impairment, Split hand, Hammertoe, Talipes equinovarus, Uln... OMIM:604563
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Depressed nasal bridge, Abnormality of the dentition, Wide mouth, Promin... OMIM:615802
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hip osteoarthritis, Joint hyperflexibility, Short middle phalanx of fi... ORPHA:63442
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Cleft palate, Respiratory insufficiency, Restricti... OMIM:614399
Intellectual Developmental Disorder, Autosomal Dominant 7
Thin upper lip vermilion, Hyperactivity, Abnormal pinna morphology, Micrognathia, Pectus excavatu... OMIM:614104
Vitamin K Antagonist Embryofetopathy
Brachydactyly, Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Hearing imp... ORPHA:1914
Waardenburg Syndrome Type 1
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Spina bifida, Underdeve... ORPHA:894
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Abnormal form of the vertebral bodies, Reduced bone mineral de... ORPHA:2370
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Microcephaly, Synophrys, Abnormality of the elbow, Radioulnar synostosis, Scol... ORPHA:3268
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... ORPHA:2994
Acrofacial Dysostosis, Cincinnati Type
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microti... OMIM:616462
Syndactyly Type 1
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand ORPHA:93402
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Trisomy 1Q
Microretrognathia, Wide nose, Depressed nasal bridge, Camptodactyly of finger, Congenital diaphra... ORPHA:261344
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Microtia, Everted lowe... ORPHA:357175
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... OMIM:612463
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Subglottic stenosis, ... ORPHA:93357
Neu-Laxova Syndrome
Osteopenia, Skeletal muscle atrophy, Micromelia, Micrognathia, Flexion contracture, Depressed nas... ORPHA:2671
Doors Syndrome
Short lingual frenulum, Hemivertebrae, Downturned corners of mouth, Widely spaced teeth, High pal... ORPHA:79500
Pallister-Hall Syndrome
Hemivertebrae, Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of li... OMIM:146510
Wieacker-Wolff Syndrome
Anteverted nares, Facial palsy, Micrognathia, Hyperlordosis, Kyphosis, Hip dislocation, Congenita... OMIM:314580
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Hearing impairment OMIM:118220
Char Syndrome
Depressed nasal bridge, Persistence of primary teeth, No permanent dentition, Depressed nasal rid... ORPHA:46627
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Posteriorly rotated ears, Prominent nasal bridge,... OMIM:613803
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Abnormal pinna morphology, Micrognathia, Recurrent upper respiratory ... ORPHA:3078
Pallister-Hall-Like Syndrome
Occipital encephalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Mi... OMIM:241800
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Hyperactivity, Spina bi... OMIM:234100
Trichorhinophalangeal Syndrome Type 2
Joint dislocation, Sparse scalp hair, Brachydactyly, Low-set, posteriorly rotated ears, Microceph... ORPHA:502
Recombinant Chromosome 8 Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Mic... OMIM:179613
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Respiratory distress, Wide nose, Wide nasal bridge, Feeding difficulties, Low-... ORPHA:89844
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Hydrocephalus, Unilambdoid synostos... OMIM:618577
Trisomy 8Q
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Myelom... ORPHA:1752
Mosaic Trisomy 8
Wide nose, Anteverted nares, Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Br... ORPHA:96061
Mucopolysaccharidosis Type 4
Joint dislocation, Anteverted nares, Abnormal dental enamel morphology, Grayish enamel, Carious t... ORPHA:582
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Micrognathia, Pectus excavatum, Sensorineural hearing impairment, Osteoarthritis, Cleft palate, P... ORPHA:166100
Intellectual Developmental Disorder, Autosomal Recessive 35
Thin upper lip vermilion, Wide nose, Hypoplasia of the ulna, Micrognathia, Downturned corners of ... OMIM:615162
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Sensorineural hearing impairment, Split hand, Upper limb amyotrophy, Distal upper... ORPHA:99950
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Osteolysis involving bones o... ORPHA:88630
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Conductive hearing impairment, Depre... OMIM:304120
Congenital Disorder Of Glycosylation, Type Ih
Death in infancy, Abdominal distention, Diarrhea, Large fontanelles, Vomiting, Decreased liver fu... OMIM:608104
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... OMIM:619795
Atelosteogenesis Type I
Joint dislocation, Laryngeal stenosis, Short femur, Rhizomelia, Micrognathia, Malrotation of colo... ORPHA:1190
Mucopolysaccharidosis Type 1
Joint dislocation, Sinusitis, Depressed nasal bridge, Malabsorption, Abnormal nasal morphology, H... ORPHA:579
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Osteopenia, Dental crowding, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feed... ORPHA:251028
Weaver Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg... ORPHA:3447
Schilbach-Rott Syndrome
Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Submucous cleft hard palate, M... OMIM:164220
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Pectus carinatum, Widely spaced teeth, Flaring of rib cage, Anterior beaki... OMIM:253000
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Ankle flexion contracture, Abdominal pain, Abdominal distention, Diarrhea, Abnormal... ORPHA:100924
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal clavicle morphology, Low-set, posteriorly rotated ears, Abnor... ORPHA:568
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Pectus carinat... ORPHA:536467
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Tented upper lip vermilion, Posteriorly rotated ears, Ataxia, Hearing impairment, Micrognathia, D... OMIM:619833
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Prom... OMIM:613792
Isotretinoin Syndrome
Depressed nasal bridge, Micrognathia, Cleft palate, Microtia, Spina bifida occulta, Abnormality o... ORPHA:2305
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Posteriorly rotated e... OMIM:620001
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... OMIM:253290
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Prominent metopic ridge, Ataxia, Kyphosis, Cleft palate, Protruding ear, G... ORPHA:85317
Meier-Gorlin Syndrome 4
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ... OMIM:613804
Osteogenesis Imperfecta, Type I
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... OMIM:166200
Scarf Syndrome
Low-set, posteriorly rotated ears, Diastasis recti, Craniosynostosis, Wide nasal base, Abnormal f... ORPHA:3134
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal nasal morphology... ORPHA:2878
Chromosome 1P36 Deletion Syndrome, Distal
Feeding difficulties in infancy, Depressed nasal ridge, Orofacial cleft, Gastroesophageal reflux,... OMIM:607872
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
High, narrow palate, Split hand, Kyphosis, Scoliosis OMIM:618124
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Conductive hearing impairment, Short 5th metaca... OMIM:311300
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Nasal polyposis, Recurrent sinusitis OMIM:620197
Smith-Magenis Syndrome
Mandibular prognathia, Everted upper lip vermilion, Hyperactivity, Abnormality of the dentition, ... OMIM:182290
Tetrasomy X
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly ORPHA:9
Mulibrey Nanism
Wide nose, Depressed nasal bridge, Dental crowding, Absent frontal sinuses, Hypoplastic frontal s... OMIM:253250
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Deep philtrum, Pectus carinatu... OMIM:115150
Trisomy 20P
Micrognathia, Abnormal form of the vertebral bodies, Reduced bone mineral density, Protruding ear... ORPHA:261318
Edinburgh Malformation Syndrome
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Hydrocephalus, Respiratory insu... ORPHA:1895
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Genu valgum, Long th... OMIM:619142
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Hyperactivity, Rhabdomyosarcoma, P... ORPHA:77301
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Wide nose, Choanal atresia, Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Re... OMIM:619227
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split foot, Split hand, Hand monodactyly OMIM:183800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thoracic scoliosis, Micrognathia, Downturned corners of mouth, Choanal stenosis, ... OMIM:620186
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Wide anterior fontanel, Umbilical hernia, Constipation, Feeding difficulties ORPHA:95715
Pfeiffer Syndrome Type 2
Depressed nasal bridge, Choanal atresia, Intestinal malrotation, Short hallux, Aqueductal stenosi... ORPHA:93259
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Gastroesophageal reflux, High palate, Joint laxity, Microretrognathia... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Gastroesophageal reflux, High palate, Joint laxity, Microretrognathia... ORPHA:590
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Wormian bo... ORPHA:166277
Deafness-Ear Malformation-Facial Palsy Syndrome
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... ORPHA:3232
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Hyperlordosis, Kyphosis... ORPHA:40
Kleefstra Syndrome
Mandibular prognathia, Tented upper lip vermilion, Downturned corners of mouth, Thickened helices... ORPHA:261494
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Abnormality of the ear, Cox... ORPHA:457395
Ritscher-Schinzel Syndrome 2
Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Wide anterior fontanel, High ... OMIM:300963
Zimmermann-Laband Syndrome
Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Sensorineural hearing impairment, Gin... ORPHA:3473
Charcot-Marie-Tooth Disease And Deafness
Thenar muscle atrophy, Sensorineural hearing impairment, Thenar muscle weakness, Split hand, Hamm... OMIM:118300
Tonne-Kalscheuer Syndrome
Prominent nasal bridge, Prominent nose, Micrognathia, Microcephaly, Velopharyngeal insufficiency,... OMIM:300978
D-Bifunctional Protein Deficiency
Depressed nasal bridge, Cerebral dysmyelination, Micrognathia, Corpus callosum atrophy, Cortical ... OMIM:261515
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... OMIM:252600
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ... OMIM:619950
Polyvalvular Heart Disease Syndrome
Dental crowding, Abnormal pinna morphology, Prominent nose, Micrognathia, Joint hyperflexibility,... ORPHA:228410
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Posteriorly rotated ears, Short neck, Me... OMIM:612813
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Baker-Gordon Syndrome
Joint laxity, Thin upper lip vermilion, Ataxia, Inability to walk, Feeding difficulties, Choreoat... OMIM:618218
Desmosterolosis
Low-set, posteriorly rotated ears, Increased bone mineral density, Depressed nasal bridge, Intest... ORPHA:35107
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Meier-Gorlin Syndrome 5
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Submucous cl... OMIM:613805
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Single transverse palmar crease, Broad nasal tip, Bifid distal phalanx of the thum... ORPHA:370010
Potocki-Lupski Syndrome
Mandibular prognathia, Hyperactivity, Dental crowding, Micrognathia, Oral-pharyngeal dysphagia, D... OMIM:610883
Cowden Syndrome 5
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Furrowe... OMIM:615108
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge OMIM:614564
Hamel Cerebro-Palato-Cardiac Syndrome
Death in infancy, Micrognathia, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow... ORPHA:93946
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Gingival overgrowth, Bell-shaped thorax, Decreased calvarial ossificat... OMIM:614592
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... ORPHA:2554
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Schneckenbecken Dysplasia
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... OMIM:269250
Pentalogy Of Cantrell
Encephalocele, Hydrocephalus, Split hand, Anencephaly, Abnormal tibia morphology, Cleft palate, A... ORPHA:1335
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Abnormal cranial nerve ... ORPHA:990
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Anteverted nares, Depressed nasal bridge, Craniosynostosis, Choanal atresia... ORPHA:1555
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thick l... OMIM:619103
Ohdo Syndrome
Joint laxity, Smooth philtrum, Anteverted nares, Depressed nasal bridge, Micrognathia, Feeding di... OMIM:249620
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f... OMIM:608670
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Short fourth metatarsal, Anteverted nares, Short neck, Microcephaly, Sensorineural hearing impair... ORPHA:464288
Acromesomelic Dysplasia 4
Mandibular prognathia, Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, ... OMIM:619636
Wt Limb-Blood Syndrome
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing... OMIM:194350
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Toe syndactyly, Choanal atresia, Micrognathia, Split hand, Fibrous syngnathia,... ORPHA:1300
Adams-Oliver Syndrome
Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hydrocephalus, Split hand, Absent toe,... ORPHA:974
Tetramelic Monodactyly
Split foot, Split hand, Foot monodactyly, Hand monodactyly OMIM:187510
Wolf-Hirschhorn Syndrome
Single transverse palmar crease, Micrognathia, Periventricular cysts, Abnormal form of the verteb... OMIM:194190
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... ORPHA:52056
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Wide nose, Eosinophilia, Recurrent fractures, Persistence of primary teeth, Craniosyn... OMIM:147060
Finnish Upper Limb-Onset Distal Myopathy
Joint contracture of the hand, Split hand, Weakness of the intrinsic hand muscles, Intrinsic hand... ORPHA:399086
Intellectual Disability-Strabismus Syndrome
Micrognathia, Prominent nose, Gastroesophageal reflux, High palate, Hyperactivity, Depressed nasa... ORPHA:363528
Chst3-Related Skeletal Dysplasia
Delayed eruption of teeth, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Highly ... ORPHA:263463
Endocrine-Cerebroosteodysplasia
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, H... OMIM:612651
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hearing impairment OMIM:618349
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Coarse meta... ORPHA:1782
Isotretinoin-Like Syndrome
Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,... ORPHA:2306
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Meier-Gorlin Syndrome 8
Micrognathia, Microtia, Thick vermilion border, Low-set ears, Narrow mouth OMIM:617564
Genitopatellar Syndrome
Delayed eruption of teeth, Hip contracture, Wide nose, Short palm, Prominent nasal bridge, Promin... ORPHA:85201
Fatty Acyl-Coa Reductase 1 Deficiency
Thin upper lip vermilion, Depressed nasal bridge, Inability to walk, Long philtrum, Short nose, M... ORPHA:438178
Non-Distal Duplication 13Q
Micrognathia, Abnormality of the dentition, Aplasia/Hypoplasia of the earlobes, Abnormal antiheli... ORPHA:1702
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Thickened nuchal skin fold, Congenital muscular torticollis, Mandibular prognathia, Vertebral fus... ORPHA:2916
Floating-Harbor Syndrome
Enlarged joints, Hypoplasia of the maxilla, Long nose, Oligodontia, Short philtrum, Compulsive be... ORPHA:2044
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Camptodactyly,... OMIM:608257
Pentasomy X
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Small hand, Wide nasal ... ORPHA:11
Triploidy
Low-set, posteriorly rotated ears, Intestinal malrotation, Micrognathia, Hydrocephalus, Meningoce... ORPHA:3376
Arthrogryposis, Distal, Type 2A
Mandibular prognathia, Joint dislocation, Dental crowding, Feeding difficulties in infancy, Knee ... OMIM:193700
Achondrogenesis Type 1B
Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnor... ORPHA:93298
Cutis Laxa, Autosomal Recessive, Type Iie
Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosynostosis, Broad ... OMIM:619451
Folinic Acid-Responsive Seizures
Respiratory distress, Broad-based gait, Ataxia, Apnea, Abdominal distention, Sensorineural hearin... ORPHA:79097
Cri-Du-Chat Syndrome
Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short philtrum, Abno... OMIM:123450
Peutz-Jeghers Syndrome
Neoplasm of the nose, Nasal polyposis, Intestinal obstruction, Abnormality of the nose, Esophagea... ORPHA:2869
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Split hand, Hand muscle weakness ORPHA:100998
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
16P12.1P12.3 Triplication Syndrome
Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Large earlo... ORPHA:485405
Lethal Congenital Contracture Syndrome Type 1
Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Recurrent fractures, Micrognathia, Li... ORPHA:1486
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B... OMIM:609052
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Wide nose, Anteverted nares, Depressed nasal bridge, Delayed epiphyseal ossific... OMIM:613320
Split-Hand And Split-Foot With Hypodontia
Split hand, Split foot OMIM:183500
Peters-Plus Syndrome
Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Short me... OMIM:261540
Acrorenal-Mandibular Syndrome
Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Low-set... OMIM:200980
Hypochondroplasia
Brachydactyly, Widened interpedicular distance, Depressed nasal bridge, Lumbar hyperlordosis, Fla... OMIM:146000
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Wide nasal bridge, Cerebral atrophy, Genu valgu... ORPHA:166024
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteopenia, Osteomyelitis, Eosinophilia, Recurrent fractures, Abnormal... ORPHA:2314
Intellectual Developmental Disorder, X-Linked 30
Restlessness, Hyperactivity, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, ... OMIM:300558
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Short distal phalanx of toe, Anteverted nares, Micrognathia, Head-banging, Delayed eruption of pe... OMIM:619356
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Depressed nasal ridge, Hypodontia ORPHA:1816
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Underdeveloped nasal alae, Abnormality of the humerus, Abnormality of th... ORPHA:1794
Spinal Muscular Atrophy With Mental Retardation
Syndactyly, Microcephaly OMIM:271109
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter, Enamel hypoplasia, Retrognathia, High palate OMIM:617915
Scarf Syndrome
Barrel-shaped chest, Posteriorly rotated ears, Prominent nasal bridge, Diastasis recti, Wide nasa... OMIM:312830
Monosomy 9P
Anteverted nares, Depressed nasal bridge, Choanal atresia, Micrognathia, Abnormality of the denti... ORPHA:261112
Hamamy Syndrome
Osteopenia, Micrognathia, High palate, Anteverted nares, Wide nasal bridge, Low-set ears, Smooth ... OMIM:611174
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Porencephalic cyst, Cle... OMIM:258860
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Microcephaly ORPHA:293
Specific Granule Deficiency 2
Death in infancy, Sandal gap, Abnormal pinna morphology, Posteriorly rotated ears, Simple ear, Am... OMIM:617475
Trisomy 17P
Skeletal muscle atrophy, Wide nose, Prominent metopic ridge, Prominent nose, Micrognathia, Hydroc... ORPHA:261290
Hypoglossia With Situs Inversus
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Malnutrition, Upper airway o... OMIM:612776
Radio-Tartaglia Syndrome
Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, High palate, Conductive hear... OMIM:619312
Cowden Syndrome 6
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Furrowe... OMIM:615109
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Wide nose, Micrognathia, Small hand, Short foot, High palate, Short philtrum, Scoliosis, Recurren... ORPHA:254531
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Prominent nasal bridge, Hypoplasia of the maxilla, Bulbous nose, Small han... OMIM:609460
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus OMIM:234280
Emery-Nelson Syndrome
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... ORPHA:1927
Dyggve-Melchior-Clausen Disease
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe... OMIM:223800
Wiedemann-Steiner Syndrome
Elbow hypertrichosis, Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short... OMIM:605130
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Syndactyly, Arachnodactyly, Microcephaly, Overfolded helix, Large fleshy ears, Thoracic kyphosis,... OMIM:619092
Coffin-Siris Syndrome 11
Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Feeding dif... OMIM:618779
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... OMIM:151050
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Joint laxity, Prominent nasal bridge, Micrognathia, Orofacial cleft, Wide mouth, Widely-spaced ma... ORPHA:502434
Developmental And Epileptic Encephalopathy 64
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathia... OMIM:618004
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Micrognathia, Aggressive behavior, Narrow mouth, Macrotia, Wide nasal bridge, Narrow palate, Hypo... OMIM:620250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Short palm, Hy... OMIM:611717
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co... OMIM:217150
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod... ORPHA:71289
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology ORPHA:2730
Trisomy 18P
Abnormal pinna morphology, Facial palsy, Underdeveloped nasal alae, Micrognathia, High, narrow pa... ORPHA:1715
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia,... OMIM:255800
Barber-Say Syndrome
Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ... ORPHA:1231
Hypertelorism-Microtia-Facial Clefting Syndrome
Thenar muscle atrophy, Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid n... ORPHA:2213
Dyskeratosis Congenita
Coarse metaphyseal trabecularization, Esophageal stenosis, Recurrent fractures, Abnormality of th... ORPHA:1775
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thin vermilion border, Bifid nose, Malar flattening, Enamel hy... ORPHA:139474
Marshall-Smith Syndrome
Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue, Gingival overgrowth, Incr... ORPHA:561
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Short femur, Depre... OMIM:300990
Schaaf-Yang Syndrome
Mandibular prognathia, Rocker bottom foot, Tapered finger, Kyphosis, Small hand, Narrow palm, Sho... OMIM:615547
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Anteriorly placed anus, Downturned corners of ... OMIM:239300
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Split hand, Talipes equinovarus, Kyphoscoliosis OMIM:607831
Ring Chromosome 8 Syndrome
Short nose, Anteverted nares, Abnormal palate morphology, Round ear ORPHA:1450
Blomstrand Lethal Chondrodysplasia
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... ORPHA:50945
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... ORPHA:3237
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Abnormally ossified vertebrae, Micr... ORPHA:3301
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Irregularity of vertebral bodies, Conductive hearing impairment, Abn... ORPHA:580
Glass Syndrome
Dental crowding, Micrognathia, Long nose, Conical tooth, Oligodontia, High palate, Hyperactivity,... OMIM:612313
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the philtrum, Choanal atresia, Aplasia/Hypoplasia of the tongue, Missing ribs, Pos... ORPHA:2759
Alkuraya-Kucinskas Syndrome
Micrognathia, Hypoplasia of the brainstem, High palate, Dandy-Walker malformation, Anteverted nar... OMIM:617822
Intellectual Developmental Disorder, Autosomal Dominant 1
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Hemivertebrae, Protru... OMIM:156200
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilio... ORPHA:2429
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Anteverted nares, Depressed nasal bridge, Pneumonia, Diarrhea, Recurrent upper respiratory tract ... OMIM:614069
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Cree Mental Retardation Syndrome
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Cleft soft palate, Micrognathia, Pectus... OMIM:606851
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Split hand, Scoliosis, Sensorineural hearing impairment OMIM:614707
Congenital Heart Defects And Skeletal Malformations Syndrome
Smooth philtrum, Dental crowding, Intestinal malrotation, Congenital diaphragmatic hernia, Joint ... OMIM:617602
Achalasia-Microcephaly Syndrome
Mandibular prognathia, Macrotia, Prominent nose, Micrognathia ORPHA:929
Metaphyseal Acroscyphodysplasia
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... ORPHA:1240
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Cleft soft palate, Kyphoscoliosis, Abnormality of the wrist, Micrognathi... ORPHA:93316
Autosomal Recessive Omodysplasia
Posteriorly rotated ears, Anteverted nares, Craniosynostosis, Micrognathia, Elbow dislocation, De... ORPHA:93329
Platyspondylic Dysplasia, Torrance Type
Depressed nasal bridge, Abdominal distention, Abnormal carpal morphology, Cleft palate, Platyspon... ORPHA:85166
Williams-Beuren Region Duplication Syndrome
Broad nasal tip, Micrognathia, Diastema, Hydrocephalus, High palate, Short philtrum, Attention de... OMIM:609757
Nicolaides-Baraitser Syndrome
Joint dislocation, High, narrow palate, Abnormal finger morphology, Short palm, Sparse hair, Thic... ORPHA:3051
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Thin upper lip vermilion, Posteriorly rotated ears, Anteverted nares, Dental crowding... OMIM:617877
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Micrognathia, Micromelia, High, narrow palate, Downturned corner... OMIM:122470
Witteveen-Kolk Syndrome
Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Cortical dysplasia,... OMIM:613406
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental crowding, Otitis media, Compulsive behaviors, Conductive hearing impairment, Abnormal repe... ORPHA:353281
Stuve-Wiedemann Syndrome 1
Enlarged joints, Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibia... OMIM:601559
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Cleft palate, Protruding ear, Too... ORPHA:1166
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Thin upper lip vermilion, Anteverted nares, Anterior concavity of thoracic vertebrae, Micrognathi... OMIM:617101
Branchiooculofacial Syndrome
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Premature... OMIM:113620
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, De... OMIM:618622
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Split hand, Scoliosis, Intrinsic hand muscle atrophy, Hearing impairment OMIM:616688
Mucopolysaccharidosis, Type Ix
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss... OMIM:601492
Agnathia-Otocephaly Complex
Respiratory distress, Wide nose, Micrognathia, Conductive hearing impairment, Aglossia, Cleft pal... OMIM:202650
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Inability to walk, Feeding di... OMIM:613443
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Sandal gap, Micrognathia, Cupped ear, 2-3 toe syndactyly, Small thenar emi... OMIM:618914
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Dentin... OMIM:259440
Myopathy, Distal, 3
Joint contracture of the hand, Split hand OMIM:610099
16P11.2P12.2 Microdeletion Syndrome
Microretrognathia, Hyperactivity, Abnormal pinna morphology, Camptodactyly of finger, Anteverted ... ORPHA:261211
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Abnormal antiheli... ORPHA:3145
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Conduc... ORPHA:1071
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thin bony cortex, Osteomalacia, Abnormal zygomatic bone morphology,... ORPHA:249
Feingold Syndrome Type 2
Toe syndactyly, Jejunal atresia, Microcephaly, Short thumb, Short middle phalanx of finger, Brach... ORPHA:391646
Apert Syndrome
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... OMIM:101200
Achondrogenesis, Type Ib
Abdominal distention, Respiratory insufficiency, Stillbirth, Umbilical hernia, Absent or minimall... OMIM:600972
Cerebrooculofacioskeletal Syndrome 4
Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Dislocat... OMIM:610758
Zttk Syndrome
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protruding ear, Downturned corners... OMIM:617140
Triphalangeal Thumb With Polysyndactyly
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... OMIM:190605
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Enlarged joints, Micrognathia, Prominent interphalangeal joints, Aplasia/Hypoplasia of the capita... OMIM:215150
Congenital Disorder Of Glycosylation, Type Iia
Mandibular prognathia, Osteopenia, Abnormal repetitive mannerisms, Self-mutilation, Thoracolumbar... OMIM:212066
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Sensorineural hearing impairment, Split hand, Hearing impairment OMIM:617882
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t... ORPHA:2491
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Tympanosclerosis, Enamel hypoplasia, Malabsorption, Atrophic gastritis OMIM:240300
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Joint laxity, Hyperlordosis, Hyp... OMIM:253010
Meckel Syndrome 14
Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Abdominal distention,... OMIM:619879
Epidermolysis Bullosa, Junctional 1A, Intermediate
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia OMIM:226650
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ... OMIM:617866
Acromicric Dysplasia
Abnormal eyebrow morphology, Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous ... ORPHA:969
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Cochlear degeneration, Hearing impairment ORPHA:95433
Rubinstein-Taybi Syndrome
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... ORPHA:783
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Conductive hearing impairme... OMIM:601076
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Choanal atresia, Sensorineural hearing impairment, Anosmia, Cleft palate, Ectrodactyly, Hyposmia,... OMIM:147950
Symphalangism, Proximal, 1A
Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Conductive hearing impairmen... OMIM:185800
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation OMIM:614450
Brachydactyly, Type A1, B
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... OMIM:607004
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic scapulae, Long clavicles, Prominent nasal bridge, Distal symphalangism, Prominent nos... OMIM:210720
X-Linked Intellectual Disability, Najm Type
Optic nerve hypoplasia, Micrognathia, Sensorineural hearing impairment, Optic atrophy, Wide nasal... ORPHA:163937
Myhre Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Broad ribs, Vertebral fusion, C... OMIM:139210
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi... OMIM:114300
Intellectual Developmental Disorder, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacia... ORPHA:268249
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Limb joint contracture, Micrognathia, Flexion contract... OMIM:618186
Intellectual Developmental Disorder, Autosomal Dominant 64
Thin upper lip vermilion, Prominent metopic ridge, Depressed nasal bridge, Anteverted nares, Micr... OMIM:619188
Neu-Laxova Syndrome 2
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, Mi... OMIM:616038
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Joint dislocation, Camptodact... ORPHA:2008
Short Syndrome
Delayed eruption of teeth, Joint laxity, Underdeveloped nasal alae, Micrognathia, Sensorineural h... OMIM:269880
Fraser Syndrome 1
Subglottic stenosis, Laryngeal stenosis, Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental ... OMIM:219000
17Q24.2 Microdeletion Syndrome
Otosclerosis, Thin upper lip vermilion, Micrognathia, Aggressive behavior, Abnormality of the wri... ORPHA:529962
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Flexion contractur... OMIM:620369
Cardiospondylocarpofacial Syndrome
High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Conductive hearing impair... ORPHA:3238
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Low-set, posteriorly rotated ears, Micrognathia, Short toe, Aplasia/Hypoplasia of the earlobes, F... ORPHA:98791
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Death in infancy, Thin upper lip vermilion, Micrognathia, Abdominal distention, Wide nasal bridge... OMIM:235255
Spastic Paraplegia 17, Autosomal Dominant
Thenar muscle weakness, Split hand, Thenar muscle atrophy OMIM:270685
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of th... OMIM:608328
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Hammertoe, Split hand, Kyphoscoliosis OMIM:118200
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Abnormal soft palate morph... ORPHA:884
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Long coccyx, Narrow greater sciatic notc... OMIM:156530
Peho-Like Syndrome
Short nose, Retrognathia, Open mouth, Feeding difficulties OMIM:617507
Familial Visceral Myopathy
Low-set, posteriorly rotated ears, Aganglionic megacolon, Camptodactyly of finger, Anteverted nar... ORPHA:2604
Lead Poisoning
Delayed eruption of teeth, Miscarriage, Anorexia, Abdominal pain, Abdominal distention, Asthma, C... ORPHA:330015
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Feeding difficulties in infancy, Respiratory insufficiency due to muscle we... ORPHA:254875
Ritscher-Schinzel Syndrome 1
Syndactyly, Depressed nasal bridge, Micrognathia, Hydrocephalus, Hemivertebrae, Cleft palate, Low... OMIM:220210
Fetal Trimethadione Syndrome
Depressed nasal bridge, Micrognathia, Overfolded helix, High palate, Low-set ears, Abnormal helix... ORPHA:1913
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Attached earlobe, Deep philtrum, Knee flexion contracture, Microdontia, Prominent crus of helix, ... OMIM:619194
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten... OMIM:241310
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Broad-based gait, Hyperactivity, Ataxia, Depressed nasal bridge, Unsteady gait, Pica, Tongue thru... OMIM:617865
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Lactose intolerance, Posteriorly rotated ears, Joint hypermobility, Ca... OMIM:619229
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Anauxetic Dysplasia 1
Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic... OMIM:607095
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, High, narrow palate, Short palm, Elbow ankylosis, Bifid uvula, Increased b... ORPHA:2658
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Esophageal stricture, Sensorineural hearing impairment, Hypodontia, Dy... OMIM:616029
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Op... ORPHA:99742
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Micromelia, Micrognathia, Pectus carinatum, High palate, Wrist flexion c... ORPHA:800
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Sheldon-Hall Syndrome
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Wide nasal bridge... ORPHA:1147
Temtamy Syndrome
Dental crowding, Micrognathia, Lop ear, Self-mutilation, Hip dislocation, Hypoplasia of teeth, Sh... OMIM:218340
Auriculocondylar Syndrome 3
Micrognathia, Question mark ear, Glossoptosis, Bilateral conductive hearing impairment, Stenosis ... OMIM:615706
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, ... OMIM:247200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Microcephaly, Increased nuc... ORPHA:453499
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Short palm, Joint stiffness, Hypoplasia of the ... ORPHA:2588
Limb Defects, Distal Transverse, With Mental Retardation And Spasticity
Split hand OMIM:246555
White-Sutton Syndrome
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Gastroesophageal reflux, High p... OMIM:616364
Sclerosteosis 1
Mandibular prognathia, Papilledema, Cortically dense long tubular bones, Depressed nasal bridge, ... OMIM:269500
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Micrognathia, Pectus excavatum, Wide nasal bridge, Abnormal antihelix morp... ORPHA:1438
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Spondylocarpotarsal Synostosis Syndrome
Pectus carinatum, Vertebral segmentation defect, Vertebral fusion, Scapular winging, Short metaca... OMIM:272460
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:129900
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Omodysplasia 2
Tented upper lip vermilion, Micrognathia, Limited elbow flexion, Dislocated radial head, Depresse... OMIM:164745
Pycnodysostosis
Persistent open anterior fontanelle, Delayed eruption of primary teeth, Micrognathia, Absent fron... OMIM:265800
Intellectual Developmental Disorder, X-Linked 91
Macrodontia, Cubitus valgus, Short nose, High palate OMIM:300577
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Craniosynostosis, Preaxial hand polydact... ORPHA:380
19P13.3 Microduplication Syndrome
Hyperactivity, Posteriorly rotated ears, Kyphoscoliosis, Underdeveloped nasal alae, Prominent nos... ORPHA:447980
Zechi-Ceide Syndrome
Mandibular prognathia, Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Thick hair, Short met... ORPHA:217017
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Delayed epiphyseal oss... OMIM:264700
Fgfr2-Related Bent Bone Dysplasia
Overfolding of the superior helices, Natal tooth, Osteopenia, Micrognathia, Gingival overgrowth, ... ORPHA:313855
Benign Schwannoma
Intestinal polyposis, Nasal polyposis, Facial palsy, Hearing abnormality, Vertigo, Abnormality of... ORPHA:252164
17P13.3 Microduplication Syndrome
Wide nose, Congenital hip dislocation, High palate, Low-set ears, Narrow mouth, Short nose ORPHA:217385
Robinow Syndrome
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Antevert... ORPHA:97360
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Pyloric stenosis, Small hand, ... ORPHA:96184
Cowden Syndrome 1
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Furrowe... OMIM:158350
Axial Mesodermal Dysplasia Spectrum
Abnormality of the knee, Congenital diaphragmatic hernia, Micrognathia, Missing ribs, Hydrocephal... ORPHA:1834
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Micrognathia, Narro... OMIM:601680
Abruzzo-Erickson Syndrome
Toe syndactyly, Short toe, Sensorineural hearing impairment, Cleft palate, Ulnar deviation of fin... ORPHA:921
16P13.11 Microdeletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Exaggerated cupid's bow, Clef... ORPHA:261236
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Micrognathia, Abnormality of the dentition, Hyperlordo... ORPHA:77258
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Micro... ORPHA:404440
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Carious teeth, Enamel hypoplasia, Thick vermilion border, Broad nasal tip ORPHA:363523
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Ctcf-Related Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Osteopenia, Anteverted nares, Cranio... ORPHA:363611
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Alopecia, Abnormal dental en... ORPHA:1005
Lethal Recessive Chondrodysplasia
Respiratory distress, Micrognathia, Generalized osteosclerosis, Macroglossia, Flared elbow metaph... ORPHA:1423
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Anteverte... OMIM:600373
Osteogenesis Imperfecta, Type V
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... OMIM:610967
Nabais Sa-De Vries Syndrome, Type 2
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Prominent nose, Micrognathia, P... OMIM:618829
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... ORPHA:280
Distal 17P13.1 Microdeletion Syndrome
Arachnodactyly, Prominent nasal bridge, Limited elbow movement, Unilateral polymicrogyria, Microc... ORPHA:319171
Intellectual Developmental Disorder, X-Linked 98
Mandibular prognathia, Tented upper lip vermilion, Long nose, Self-biting, Downturned corners of ... OMIM:300912
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Narrow nasal bridge, Restlessness, Respiratory distress, Sensorineural hearing impairment, Flexio... ORPHA:544503
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Prominent nasal bridge, Sensorineural hearing impairment, Short toe, Large knee, Dela... OMIM:619269
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Akin... OMIM:608013
Noonan Syndrome 13
Micrognathia, Enlarged thorax, High palate, Widely spaced teeth, Microdontia, Joint laxity, Promi... OMIM:619087
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Split hand, Hammertoe, Scoliosis, Ulnar claw OMIM:145900
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Laryngeal stenosis, Anteverted nares, Aplasia/Hypoplasia of the tongue, ... ORPHA:1358
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hydrocephalus, Small hand, Cleft... ORPHA:459061
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... OMIM:604292
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Achondroplasia
Bowing of the legs, Femoral bowing, Choanal stenosis, Narrow greater sciatic notch, Conductive he... OMIM:100800
Primrose Syndrome
Skeletal muscle atrophy, Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture... OMIM:259050
Beckwith-Wiedemann Syndrome
Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Feeding difficulties in infancy, Wi... ORPHA:116
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Orofaciodigital Syndrome Xiv
Microretrognathia, Occipital encephalocele, Natal tooth, Posteriorly rotated ears, Hamartoma of t... OMIM:615948
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... ORPHA:1350
Athyreosis
Abdominal distention, Large fontanelles, Feeding difficulties, Macroglossia, Constipation ORPHA:95713
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Thick eyebrow, Depressed nasal bridge, Single transverse palmar crease, Hearing impairment, Broad... ORPHA:466950
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Atrophic muscularis propria, Abdomin... ORPHA:298
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... OMIM:603546
Distal Deletion 19P
Low-set, posteriorly rotated ears, Hypoplasia of the maxilla, Sensorineural hearing impairment, C... ORPHA:96129
Cebalid Syndrome
Posteriorly rotated ears, Abnormal pinna morphology, Anteverted nares, Depressed nasal bridge, De... OMIM:618774
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious ... OMIM:259710
Thyroid Hemiagenesis
Abdominal distention, Large fontanelles, Macroglossia, Constipation, Umbilical hernia ORPHA:95719
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Broad nasal tip, Thickened... ORPHA:488434
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... ORPHA:369950
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1
High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h... OMIM:605594
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... ORPHA:666
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa... OMIM:619841
Bohring-Opitz Syndrome
Joint dislocation, Micrognathia, Low anterior hairline, Hypoplasia of the brainstem, Agenesis of ... OMIM:605039
Distal Duplication 6P
Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Abnormal antitragus mor... ORPHA:1745
Orofaciodigital Syndrome I
Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Myelomeni... OMIM:311200
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Poor suck, Micrognathia OMIM:300580
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypoplastic nipples, Camptodacty... OMIM:603543
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow ... OMIM:183900
Usher Syndrome, Type Ig
Abnormal vestibular function, Sensorineural hearing impairment, Hypoplasia of the nasal bone OMIM:606943
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Anteverted nares, Congenital diaphra... ORPHA:1915
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... ORPHA:93322
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Abnormality of the dentit... ORPHA:2315
Arthrogryposis, Distal, Type 2B2
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... OMIM:618435
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Thin upper lip vermilion, Broad-based gait, Wide nose, Anteverted nares, Kyphoscoli... ORPHA:391408
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Depressed nasal ridge, Everted lower lip ... ORPHA:181
3P25.3 Microdeletion Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Prominent nose, Micrognathia, High, narrow palate... ORPHA:435638
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Multiple pterygia, Micrognathia, Orofacial cleft, Abnormal sternum morph... ORPHA:2990
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Thick hair, Optic nerve hypoplasia, Micrognathia, Synophrys, Hypertrichosis, Hip dysplasia, Long ... OMIM:618381
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Single transverse palmar crease, Limited elbow movement, Micrognathia, Short neck, Proximal place... OMIM:610759
15Q24 Microdeletion Syndrome
Broad eyebrow, Depressed nasal bridge, Prominent nasal bridge, Proximal placement of thumb, Micro... ORPHA:94065
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Po... OMIM:612284
Fg Syndrome Type 1
Dental crowding, Micrognathia, Prominent nose, Generalized joint laxity, Abnormal sternum morphol... ORPHA:93932
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Osteopenia, Reduced bone mineral density OMIM:619489
Cockayne Syndrome Type 1
Mandibular prognathia, Absent brainstem auditory responses, Foot joint contracture, Delayed erupt... ORPHA:90321
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, High pal... OMIM:268400
Frontometaphyseal Dysplasia
Subglottic stenosis, Single transverse palmar crease, Limited elbow movement, Micrognathia, Metap... ORPHA:1826
Au-Kline Syndrome
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, Gastroesophageal reflux,... OMIM:616580
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... ORPHA:3201
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype... ORPHA:169186
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Mandibular prognathia, Low-set, posteriorly rotated ears, Lumbar hyperlordosis, Rhizomelia, Poste... ORPHA:171866
German Syndrome
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Hearing abnormality, Limitation of... ORPHA:2077
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Coarse metaphyseal trabecularization, Metaphyseal dyspl... ORPHA:3219
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Neuromuscular dysphagia, Macrodontia of permanent maxillary central incisor, Retr... ORPHA:466722
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... OMIM:103580
Legg-Calvé-Perthes Disease
Cartilage destruction, Joint dislocation, Abnormality of the dentition ORPHA:2380
Spondylospinal Thoracic Dysostosis
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Arthrogryposis multiple... OMIM:601809
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Torticollis, Stiff neck, Micrognathia, Increased variability in muscle fiber ... OMIM:617022
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Abnormal rib morphology, Cleft palate, Abnormal cr... ORPHA:2345
Developmental And Epileptic Encephalopathy 80
Optic disc pallor, Death in infancy, Tented upper lip vermilion, Posteriorly rotated ears, Abnorm... OMIM:618580
4H Leukodystrophy
Delayed eruption of teeth, Abnormality of the dentition, Optic atrophy, Hypodontia, Dysphagia ORPHA:289494
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification,... OMIM:616007
Syndactyly Type 3
Finger syndactyly, Short toe, Camptodactyly of finger ORPHA:93404
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Neonatal death, Mitten... OMIM:609638
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine... OMIM:606164
Hypomandibular Faciocranial Dysostosis
Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft pal... ORPHA:1790
Genitopalatocardiac Syndrome
Micrognathia, Microcephaly, Kyphosis, Hydrocephalus, Postaxial hand polydactyly, Wide nasal bridg... ORPHA:2075
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Dry hair, Tapered finger, Short 3rd toe, Short thumb, Dysplastic corpus callosum, Split hand, Low... OMIM:618569
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Sensorineural hearing impairment, Hypoplasia of the semicirc... OMIM:609136
Musculocontractural Ehlers-Danlos Syndrome
Cervical kyphosis, Generalized joint laxity, Protruding ear, High palate, Microretrognathia, Low-... ORPHA:2953
Treacher Collins Syndrome 2
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... OMIM:613717
Brachydactyly, Type E1
Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl... OMIM:113300
Vascular Malformation, Primary Intraosseous
Diastasis recti, Supraumbilical raphe, Ectopic tooth eruption, Gingival bleeding, Umbilical hernia OMIM:606893
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Posteriorly rotated ears, Facial hypotonia, Broad nasal tip, Protruding tongue, ... OMIM:618106
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Low-set, posteriorly rotated ears, Metopic suture patent to nasal root, Premature posterior fonta... ORPHA:3369
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol... ORPHA:166011
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Hydr... OMIM:614424
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, De... OMIM:619445
8Q24.3 Microdeletion Syndrome
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ... ORPHA:508488
Saethre-Chotzen Syndrome
Absent first metatarsal, Delayed cranial suture closure, Hypoplasia of the maxilla, Prominent cru... OMIM:101400
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Low-set, posteriorly rotated ears, Anteverted nares, Depressed na... ORPHA:2311
Gordon Syndrome
Finger syndactyly, Camptodactyly of finger, Cleft palate, High palate, Scoliosis, Clinodactyly of... ORPHA:376
Chromosome 15Q11.2 Deletion Syndrome
Irregular dentition, Elbow contracture, Narrow nose, Micrognathia, Bulbous nose, Cleft palate, Co... OMIM:615656
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... OMIM:617396
Immunodeficiency 49
Natal tooth, Posteriorly rotated ears, Eosinophilia, Micrognathia, Short philtrum, Wormian bones,... OMIM:617237
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Microcephaly, Abnormal epiphysis morphology, Brachydactyly ORPHA:2643
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Proximal muscle weakness in upper limbs, Hand muscle weakness, Split hand, Intrinsic hand muscle ... ORPHA:101097
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly, Death in infancy, Carious teeth, Pyloric stenosis, Nail dystrophy, Enamel hypoplasia OMIM:226700
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Posteriorly rotated ears, Miscarriage, Micromelia, Micrognathia, Hydrocephalus, Fl... ORPHA:1865
Chromosome 20Q11-Q12 Deletion Syndrome
Brachydactyly, Hearing impairment, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adduct... OMIM:614257
De Barsy Syndrome
Delayed eruption of teeth, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Delayed... ORPHA:2962
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp... ORPHA:392
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology ORPHA:1078
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger, Scoliosis, Brachydactyly ORPHA:1937
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Oral-pharyngeal ... OMIM:619184
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Posteriorly rotated ears, At... OMIM:618430
Hypoglossia-Hypodactylia
Micrognathia, Adactyly, Split hand, Aglossia, Microglossia, Retrognathia OMIM:103300
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Sparse scalp hair, Arachnodactyly, Malar prominence, Long nose, Micrognathia, Cone-shaped epiphys... ORPHA:2824
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contractu... OMIM:619720
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Slender nose, Pursed lips, Micrognathia, Narrow mouth, Flexion contracture, Wide nasal bridge, Sh... ORPHA:562528
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Abnormal oral mucosa morphology, Camptodactyly of finger, Micr... ORPHA:1968
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Hyperextensibility of the finger joints, Downturned corners of mouth, High... OMIM:135500
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, Fe... OMIM:620292
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Brachydactyly, Synophrys, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal metaca... ORPHA:1295
Trichothiodystrophy 3, Photosensitive
Natal tooth, Carious teeth, Pyloric stenosis, Low-set ears, Eclabion, Meckel diverticulum, Hearin... OMIM:616395
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Duodenal stenosis, Microtia,... ORPHA:2547
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... OMIM:226670
Smith-Mccort Dysplasia 2
Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Sho... OMIM:615222
Keipert Syndrome
Wide nose, Broad hallux, Prominent nose, Sensorineural hearing impairment, Broad distal phalanx o... OMIM:301026
Cole-Carpenter Syndrome 2
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho... OMIM:616294
Potocki-Shaffer Syndrome
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... OMIM:601224
Charge Syndrome
Mixed hearing impairment, Aplasia of the semicircular canal, Sensorineural hearing impairment, Cu... OMIM:214800
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ... OMIM:265000
Myasthenic Syndrome, Congenital, 19
Barrel-shaped chest, Facial palsy, Micrognathia, Distal joint laxity, Pectus carinatum, High pala... OMIM:616720
Rauch-Steindl Syndrome
Attached earlobe, Hyperactivity, Depressed nasal bridge, Miscarriage, Micrognathia, Prominent cru... OMIM:619695
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micr... OMIM:222765
20Q11.2 Microdeletion Syndrome
Brachydactyly, Hearing impairment, Abnormality of the ear, Finger clinodactyly, Camptodactyly, Ad... ORPHA:444051
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Depressed nasal bridge, Micrognathia, Macrotia, High palate, Low-set ears, Retrognathia OMIM:618142
22Q11.2 Duplication Syndrome
Wide nose, Micrognathia, Depressed nasal ridge, Cleft palate, Anterior creases of earlobe, Compul... ORPHA:1727
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis, Vertebral wed... OMIM:610968
Native American Myopathy
Joint laxity, Skeletal muscle atrophy, Muscle fiber atrophy, Micrognathia, Conductive hearing imp... ORPHA:168572
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Mandibular prognathia, Cubitus valgus, Wide nasal bridge, Low posterior hairline, Genu valgum, Pr... ORPHA:1778
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin... ORPHA:217085
Melnick-Needles Syndrome
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Narrow chest, S... OMIM:309350
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Depressed nasal bridge, Abnormal oral mucosa morphology, Underdevelo... OMIM:305100
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Abnormal form of the ve... ORPHA:52
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Abnormality of the nose, Sensorineural hearing impa... ORPHA:3152
Tetraploidy
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Co... ORPHA:3305
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Wide cranial sutures, Enlargement of the ankles, Osteomalacia, Delayed... ORPHA:289157
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Otitis media, Compulsive behaviors, Conductive hearin... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Otitis media, Compulsive behaviors, Conductive hearin... ORPHA:353277
Orofaciodigital Syndrome Xviii
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... OMIM:617927
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Mandibular prognathia, Syndactyly, Microcephaly, Anteverted ears, Clinodactyly, Cerebellar hypopl... OMIM:618087
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Cerebellar vermis hypoplasia, Micrognathia, Proxima... ORPHA:397715
Dubowitz Syndrome
Delayed eruption of teeth, Hyperactivity, Prominent nasal bridge, Broad nasal tip, Carious teeth,... OMIM:223370
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Micrognathia, Protruding ear, High palate, Short philtrum, Compulsive behaviors, Anteverted nares... OMIM:618443
Bartsocas-Papas Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Pterygium, Short metacarpal, Cleft ... OMIM:263650
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Joint laxity, Persistent open anterior fontanelle, Dental crowding, Narrow mouth, Protruding ear,... OMIM:615539
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Limited pronati... ORPHA:163654
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Brittle Cornea Syndrome 1
Joint laxity, Congenital hip dislocation, Scoliosis, Dentinogenesis imperfecta, Hearing impairment OMIM:229200
Myopathy And Diabetes Mellitus
Respiratory distress, Inability to walk, Achilles tendon contracture, Sensorineural hearing impai... ORPHA:2596
Asthma, Nasal Polyps, And Aspirin Intolerance
Nasal polyposis OMIM:208550
Ablepharon Macrostomia Syndrome
Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Hyp... ORPHA:920
Angelman Syndrome
Mandibular prognathia, Hyperactivity, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, M... OMIM:105830
Fraser Syndrome
Subglottic stenosis, Laryngeal stenosis, Cleft ala nasi, Dental crowding, Orofacial cleft, Verteb... ORPHA:2052
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Craniosynostosis, Preaxial hand polydacty... OMIM:175700
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Conductive hearin... ORPHA:217093
Hennekam Syndrome
Delayed eruption of teeth, Depressed nasal bridge, Abnormal oral mucosa morphology, Abnormal dent... ORPHA:2136
Feingold Syndrome
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Microcepha... ORPHA:1305
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Broad nasal tip, Micrognathia, Hydrocephalus, Deep philtrum, Optic atrop... OMIM:614969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Optic nerve hypoplasia, Cleft upper lip, Micrognathia, Meningoencephaloc... OMIM:236670
Treacher Collins Syndrome 1
Cleft soft palate, Choanal atresia, Micrognathia, Cleft palate, Wide mouth, Hypoplasia of the pha... OMIM:154500
Bardet-Biedl Syndrome 16
Recurrent otitis media, Respiratory distress, Hearing impairment OMIM:615993
Chromosome 10Q26 Deletion Syndrome
Thin upper lip vermilion, Scapular winging, Hyperactivity, Congenital hip dislocation, Lumbar hyp... OMIM:609625
Rabson-Mendenhall Syndrome
Mandibular prognathia, Wide nose, Anteverted nares, Prominent nasal bridge, Dental crowding, Abno... ORPHA:769
Trisomy 12P
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal antihelix mo... ORPHA:1699
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Non-midline cleft lip, Cleft pala... ORPHA:1770
Liebenberg Syndrome
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hypoplasia of ... OMIM:276820
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Joint laxity, Anteverted nares, Dental crowding, Kyphoscoliosis, Broad nas... OMIM:617402
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mandibular prognathia, Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic kyphosis, L... OMIM:271510
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Hi... OMIM:608799
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent tragus, Cleft lip,... OMIM:603457
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Wide mouth, Oligodon... OMIM:602562
Dyssegmental Dysplasia, Silverman-Handmaker Type
Occipital encephalocele, Posteriorly rotated ears, Micromelia, Micrognathia, Anisospondyly, Wide ... OMIM:224410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ataxia, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Deep ... OMIM:615398
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal, Abno... OMIM:221320
Summitt Syndrome
Finger syndactyly, Wide nose, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis,... ORPHA:3210
Cystic Fibrosis
Osteopenia, Nasal polyposis, Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Osteoporo... ORPHA:586
9P13 Microdeletion Syndrome
Microretrognathia, Anteverted nares, Joint stiffness, Abnormality of cartilage of external ear, W... ORPHA:324313
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Pitt-Hopkins Syndrome
Anteverted nares, Prominent nasal bridge, Aganglionic megacolon, Hiatus hernia, Aggressive behavi... ORPHA:2896
Microcephaly-Deafness-Intellectual Disability Syndrome
Micrognathia, Sensorineural hearing impairment, Cupped ear, Protruding ear, Everted lower lip ver... ORPHA:2533
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Posteriorly rotated ears, Abnormal cortic... ORPHA:2211
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Respiratory distress, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental m... ORPHA:329178
Microcephaly-Micromelia Syndrome
Wide nose, Micromelia, Micrognathia, Aqueductal stenosis, Missing ribs, Absent thumb, Absent radi... OMIM:251230
Camptosynpolydactyly, Complex
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly OMIM:607539
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Abnormal pinna morphology, Perianal abscess, Widow's peak, Small hand, Wide nasal bridge, Overfol... OMIM:614684
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Short palm, Dental crowding, Micrognathia, Pectus excavatum, Abnormality of the dentition, Aggres... ORPHA:476126
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Multiple rib fractures, Osteopenia, Wormian bones, Rhizomelia, Recurrent fract... OMIM:616229
Tetralogy Of Fallot
Abnormal nasal morphology, Clinodactyly of the 5th finger, Brachydactyly ORPHA:3303
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteve... OMIM:618961
Neuhauser Syndrome
Osteopenia, Depressed nasal bridge, Genu recurvatum, Micrognathia, Cupped ear, Wide nasal bridge,... OMIM:249310
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... ORPHA:3103
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Beaded ribs, Enlargement of the costochondral junction, Sensor... ORPHA:89936
Tarp Syndrome
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micrognathia, Glossoptosis, High p... OMIM:311900
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... ORPHA:2256
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Depressed nasal bri... ORPHA:994
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Anteverted nares, Cleft soft palate, Micrognathia, Wide nasal bridge, Microtia, Submucous cleft s... ORPHA:2282
15Q Overgrowth Syndrome
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... ORPHA:314585
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Basal ganglia ca... OMIM:612462
Kleefstra Syndrome Due To A Point Mutation
Natal tooth, Uplifted earlobe, Abnormality of the dentition, Thick lower lip vermilion, Self-inju... ORPHA:261652
Craniofacial-Deafness-Hand Syndrome
Depressed nasal bridge, Hypoplasia of the maxilla, Sensorineural hearing impairment, Narrow naris... OMIM:122880
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Wormian bones, Brachydactyly, Microcephaly, Short distal phalanx of finger ORPHA:2787
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... OMIM:206920
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Inability to walk, Wide na... OMIM:615716
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Ataxia,... OMIM:211530
Weiss-Kruszka Syndrome
Prominent metopic ridge, Anteverted nares, Exaggerated cupid's bow, Hearing impairment, Cupped ea... OMIM:618619
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Underdeveloped superior crus of antihelix, Convex nasal ridge, Hypoplasia of the tooth germ, Micr... ORPHA:293967
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Micrognathia, Flexion contracture, Anteri... OMIM:601803
Short Stature With Microcephaly And Distinctive Facies
Microretrognathia, Syndactyly, Brachydactyly, Death in infancy, Depressed nasal bridge, Anteverte... OMIM:615789
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Dental cro... OMIM:309583
Recombinant 8 Syndrome
Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Pectus excavatum, Cle... ORPHA:96167
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Feeding difficulties OMIM:616341
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Bulbous nose, Supernumerary tooth, Tongue nodules, Short sternum, Low... OMIM:258850
Cutis Laxa, Autosomal Recessive, Type Iib
Osteopenia, Congenital hip dislocation, Narrow nasal ridge, Bulbous nose, Hydrocephalus, Large fo... OMIM:612940
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Glos... ORPHA:93346
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Protruding ear, Sparse hair, Dystrophic fin... ORPHA:3253
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Promin... ORPHA:2745
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Broad hallux, Sandal gap, Persistence of primary teeth, Scarring alopecia of scalp, Clinodactyly,... OMIM:618727
Thanatophoric Dysplasia Type 2
Encephalocele, Depressed nasal bridge, Micromelia, Hearing impairment, Kyphosis, Hydrocephalus, I... ORPHA:93274
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Everted upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge... OMIM:619951
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Posteriorly rotated ears, Kyphosis, Delayed ossification of carpal bones, Short femoral neck, Mac... OMIM:618392
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Depressed nasal bridge, Accessory oral frenulum, Supernumerary tooth, Aplasia o... OMIM:617088
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Micrognathia, Preaxial polydactyly, Finger clinodactyly, Lobulated ... ORPHA:2754
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,... ORPHA:233
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Death in infancy, Hypoventilation, Elbow contracture, Abdominal distention, Sensorineural hearing... OMIM:620275
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Orofaciodigital Syndrome Type 5
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... ORPHA:2919
Helsmoortel-Van Der Aa Syndrome
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Short 4th toe, Advan... OMIM:615873
Thanatophoric Dysplasia
Depressed nasal bridge, Micromelia, Hearing impairment, Abnormal sacroiliac joint morphology, Inc... ORPHA:2655
Subaortic Stenosis-Short Stature Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Kyphosis, Scoliosis, Microdont... ORPHA:3191
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... ORPHA:2010
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Disc-like vertebral bodies, Depressed nasal bridge, Ovoid vertebral bodies,... OMIM:151210
Diamond-Blackfan Anemia 7
Osteopenia, Small hypothenar eminence, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, ... OMIM:612562
Mosaic Trisomy 9
Intestinal malrotation, Spina bifida, Micrognathia, Camptodactyly of finger, Micromelia, Bulbous ... ORPHA:99776
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Kyphomelic Dysplasia
Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, Micrognathia, Joint stiffn... ORPHA:1801
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Micromelia, Underdeveloped nasal alae, Prominent nose, Microcephaly, Sensorineural hearing impair... ORPHA:2637
Insulin-Like Growth Factor I, Resistance To
Thin upper lip vermilion, Micrognathia, Pectus excavatum, Narrow mouth, Small hand, Wide nasal br... OMIM:270450
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... ORPHA:289
Intellectual Developmental Disorder, Autosomal Dominant 22
Thin upper lip vermilion, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Long n... OMIM:612337
Multiple Epiphyseal Dysplasia Type 1
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... ORPHA:93308
Alg3-Cdg
Osteopenia, Abnormal pinna morphology, Abnormality of the nose, Macroglossia, Neural tube defect,... ORPHA:79321
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Mandibular prognathia, Prominent nose, Short metatarsal, Sparse hair, Short metacarpal, Rhizomeli... OMIM:614813
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Sensorineural hearing impairment, Feeding difficulties, G... OMIM:616974
Contractures-Developmental Delay-Pierre Robin Syndrome
Thoracolumbar scoliosis, Underdeveloped nasal alae, Micrognathia, High, narrow palate, Short thum... ORPHA:436003
Marden-Walker Syndrome
Skeletal muscle atrophy, Micrognathia, Abnormal form of the vertebral bodies, Pectus carinatum, B... ORPHA:2461
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Limitation of joint mobility ORPHA:2680
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Oral mucosal blisters ORPHA:79402
Congenital Disorder Of Deglycosylation 2
Genu recurvatum, Hamartoma of tongue, Micrognathia, Macroglossia, Short columella, High palate, M... OMIM:619775
Trisomy 10P
Micrognathia, Abnormality of the ear, Hemivertebrae, Orofacial cleft, Gastroesophageal reflux, Hi... ORPHA:171929
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Mandibular prognathia, Hyperactivity, Depressed nasal bridge, Prominent nasal bridge, Abnormality... OMIM:618505
Orofaciodigital Syndrome Type 10
Depressed nasal bridge, Cleft soft palate, Accessory oral frenulum, Micrognathia, Tarsal synostos... ORPHA:2756
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Downturned corners of mouth, Widely sp... ORPHA:199
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Wide nose, Small hypothenar eminence, Joint hypermobility, Hypoplasia of the musculat... ORPHA:2463
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Short nose ORPHA:2598
Postaxial Acrofacial Dysostosis
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Camptodactyly of finger, Micrognathia,... ORPHA:246
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Mucopolysaccharidosis Type 6
Sinusitis, Ovoid vertebral bodies, Joint stiffness, Kyphosis, Thick lower lip vermilion, Recurren... ORPHA:583
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Pa... OMIM:109400
Orofacial Cleft 13
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia OMIM:613857
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Limb hypertonia, Hypodontia, Amelogenesis imperfecta OMIM:615905
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Chronic gastritis, Osteopenia, Cerebral arteriovenous malformation, Microg... OMIM:150230
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microretrognathia, Inability to walk, Bulbous nose, Deep philtrum, Cleft lip, Wide nasal bridge, ... OMIM:618571
Chromosome 18P Deletion Syndrome
Barrel-shaped chest, Anteverted nares, Posteriorly rotated ears, Micrognathia, Depressed nasal ri... OMIM:146390
Kagami-Ogata Syndrome
Pursed lips, Anteverted nares, Depressed nasal bridge, Diastasis recti, Micrognathia, Kyphoscolio... ORPHA:254519
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Micromelia, Deep philtrum, L... ORPHA:1675
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Pectus excavatum, Sensorineur... ORPHA:52055
Difference Of Sex Development-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Kyphosis, Reduced bone mineral density, Genu valgum, Downturne... ORPHA:2983
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Congenital hip dislocation, Anteverted nares, Delayed closure of the anterior fontanelle, Broad n... ORPHA:357074
Bartsocas-Papas Syndrome
Finger syndactyly, Toe syndactyly, Alopecia totalis, Underdeveloped nasal alae, Aplasia/Hypoplasi... ORPHA:1234
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Thoracic kyphoscoliosis, Kyphoscoliosis, Hydrocephalus, Flexion c... OMIM:613330
Cardiofaciocutaneous Syndrome
Low-set, posteriorly rotated ears, Depressed nasal bridge, Anteverted nares, Pectus excavatum, Hy... ORPHA:1340
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Short neck, Anteriorly placed anus, Short phalanx of finger, Syndactyly, Anteverted... OMIM:616894
Squalene Synthase Deficiency
Depressed nasal bridge, Posteriorly rotated ears, Optic nerve hypoplasia, Micrognathia, Elbow fle... OMIM:618156
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Multiple joint dislocation, Pectus car... OMIM:245600
Eiken Syndrome
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Clinodactyly, ... OMIM:600002
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Supernumerary nipple, Hydr... ORPHA:1812
Combined Oxidative Phosphorylation Deficiency 2
Redundant neck skin, Low-set ears, Neonatal death, Agenesis of corpus callosum, Brachydactyly OMIM:610498
Proximal 16P11.2 Microdeletion Syndrome
Congenital diaphragmatic hernia, Micrognathia, Craniosynostosis, Pyloric stenosis, Sensorineural ... ORPHA:261197
20Q11.2 Microduplication Syndrome
Low-set, posteriorly rotated ears, Prominent metopic ridge, Tented upper lip vermilion, Anteverte... ORPHA:363659
Smith-Lemli-Opitz Syndrome
Dental crowding, Micrognathia, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, H... OMIM:270400
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Posteriorly rotated ears, Underdeveloped nasal alae, Micrognathia, Cupped ea... ORPHA:264200
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Sensorineural hearing impairment, Absent middle phalanx of 5th finger, Nail dystr... OMIM:124480
Tolchin-Le Caignec Syndrome
Abnormal vestibular function, Diastasis recti, Prominent nose, Micrognathia, Sensorineural hearin... OMIM:618971
Cerebrooculofacioskeletal Syndrome 2
Camptodactyly of finger, Kyphoscoliosis, Prominent nose, Micrognathia, Death in childhood, Convex... OMIM:610756
Congenital Pancreatic Cyst
Abdominal distention, Vomiting, Anorexia, Abdominal pain ORPHA:313906
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Tented upper lip vermilion, Posteriorly rotated ears, Apnea, Micrognathia, Kyphosis, Respiratory ... OMIM:617527
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Pulp calcification, Taurodontia, Subperiosteal bone formation, Enamel h... OMIM:211900
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the hand, Supernumerary tooth, Sparse hair, Uncombable hair, Short 5th metacarpal,... ORPHA:1264
Achondrogenesis
Anteverted nares, Micrognathia, Abnormal enchondral ossification, Abnormality of bone mineral den... ORPHA:932
Rhombencephalosynapsis
Microretrognathia, Finger syndactyly, Septo-optic dysplasia, Agenesis of cerebellar vermis, Antev... ORPHA:59315
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodact... ORPHA:1788
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation OMIM:264270
Roifman Syndrome
Hip contracture, Short metacarpal, Biconvex vertebral bodies, Anteverted nares, Single transverse... OMIM:616651
Sjogren-Larsson Syndrome
Enamel hypoplasia, Flexion contracture, Thoracic kyphosis OMIM:270200
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Craniosynostosis, Underdeveloped nasal... ORPHA:166035
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... ORPHA:2911
Roifman Syndrome
Narrow nasal bridge, Hip contracture, Brachydactyly, Epiphyseal dysplasia, Biconvex vertebral bod... ORPHA:353298
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal ... OMIM:618590
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Prominen... OMIM:210710
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Abnormal hair morphology, Preaxial... ORPHA:64754
Zechi-Ceide Syndrome
Wide nose, Cerebellar vermis hypoplasia, Sandal gap, Underdeveloped nasal alae, Short metatarsal,... OMIM:612916
Thrombocytopenia-Absent Radius Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinoda... OMIM:274000
Adenylosuccinase Deficiency
Thin upper lip vermilion, Prominent metopic ridge, Hyperactivity, Anteverted nares, Aggressive be... OMIM:103050
Cardiospondylocarpofacial Syndrome
Carpal synostosis, Gastroesophageal reflux, Conductive hearing impairment, Joint laxity, Antevert... OMIM:157800
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Underdeveloped nasal alae, Prominent nose, Micrognathia, Supernumerary tooth, Conical tooth, Sens... ORPHA:90024
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Death in infancy, Respiratory distress, Thoracic scoliosis, Gastrostomy tu... OMIM:620278
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Micrognathia, Abnormality of the dentition, Sensorineural hearing impairment, Thick lower lip ver... ORPHA:85321
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Short third metatarsal, Thoracic scoliosis, Camptodactyly of finger, Split h... ORPHA:324442
Chromosome 17P13.1 Deletion Syndrome
Diffuse cerebral atrophy, Proximal placement of thumb, Short neck, High, narrow palate, Synophrys... OMIM:613776
Sialuria
Thin upper lip vermilion, Wide nasal bridge, Macroglossia, High palate, Low-set ears, Protuberant... OMIM:269921
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Apnea, Flexion contractu... OMIM:610015
Chromosome 19Q13.11 Deletion Syndrome, Distal
Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Macrotia, Wide nasal br... OMIM:613026
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Micrognathia, Downturned corners of mouth, Short philtrum, Wid... OMIM:619297
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp OMIM:125420
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia OMIM:183300
Orofaciodigital Syndrome Type 14
Microretrognathia, Low-set, posteriorly rotated ears, Accessory oral frenulum, Hamartoma of tongu... ORPHA:434179
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malabsorpti... OMIM:242860
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Abnormal nasal morphology, Non-... ORPHA:1104
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Pectus excavatum, Tho... OMIM:300472
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Death in infancy, Block vertebrae, Kyphoscoliosis, Abdominal distention, Hemive... OMIM:277300
Polydactyly, Postaxial, Type A5
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis OMIM:263450
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis OMIM:617105
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Wide nose, Short nose, Long philtrum OMIM:125700
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Wide nasal bridge, Orofacial cleft, Respiratory failure, High palate, Lo... OMIM:618804
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Abnorma... ORPHA:1825
Hypochondroplasia
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... ORPHA:429
Geroderma Osteodysplasticum
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral ... OMIM:231070
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Osteopenia, Joint laxity, Scapular winging, Impulsivity, Micrognathia, Aggressive behavior, Hyper... ORPHA:73223
Adiposis Dolorosa
Abdominal distention, Constipation OMIM:103200
Sanjad-Sakati Syndrome
Low-set, posteriorly rotated ears, Intestinal obstruction, Depressed nasal bridge, Abnormal denta... ORPHA:2323
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta OMIM:614832
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Short thumb, Cupped ear, Xerostomia, Microtia, Widely spaced teeth, Enamel hypopla... OMIM:620193
Tenorio Syndrome
Osteopenia, Mandibular prognathia, Joint laxity, Wide nose, Anteverted nares, Apnea, Hydrocephalu... OMIM:616260
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Anteverted nares, Prominent nasal bridge, ... ORPHA:2332
Al-Raqad Syndrome
Joint laxity, Thin upper lip vermilion, Inability to walk, Gait ataxia, Chronic constipation, Low... OMIM:616459
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos... OMIM:604757
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... OMIM:602196
Mandibuloacral Dysplasia With Type B Lipodystrophy
Death in early adulthood, Alopecia, Brittle hair, Narrow nasal ridge, Micrognathia, Hypoplasia of... OMIM:608612
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... OMIM:611263
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu... OMIM:208150
Coffin-Siris Syndrome 12
Micrognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Simple ear, Joint laxi... OMIM:619325
Pseudoachondroplasia
Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fragmente... OMIM:177170
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Joint laxity, Respiratory distress, Smooth philtrum, Posteriorly rotated ears, Depressed nasal br... OMIM:300968
Ohdo Syndrome, X-Linked
Prominent nose, Micrognathia, High palate, Narrow chest, Widely spaced teeth, Microdontia, Depres... OMIM:300895
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus, Low-set, posteriorly rotated ears, Increased bone mineral density, M... ORPHA:1237
Hurler Syndrome
Anteverted nares, Depressed nasal bridge, Joint stiffness, Broad nasal tip, Kyphosis, Hydrocephal... OMIM:607014
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Abnormal finger morphology, Phocomelia, Microgastria, Agenesis o... ORPHA:2538
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Micrognathia, Flexion contracture, Glossoptosis, High palate, Depressed ... OMIM:254940
Roberts-Sc Phocomelia Syndrome
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Spa... OMIM:268300
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Micrognathia... OMIM:301043
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid stern... ORPHA:63260
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Cleft palate, Slender long bone, Retrognathia, Brachydactyly OMIM:618265
Chromosome 2Q37 Deletion Syndrome
Wide nose, Short fourth metatarsal, Depressed nasal bridge, Anteverted nares, Short metacarpal, B... OMIM:600430
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Coloboma Of Macula With Type B Brachydactyly
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... OMIM:120400
Xfe Progeroid Syndrome
Premature loss of teeth, Optic atrophy, Death in adolescence, Scoliosis, Enamel hypoplasia, Conve... OMIM:610965
Chromosome 1P35 Deletion Syndrome
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Sensorineural hearing impairmen... OMIM:617930
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Posteriorly rotated ears, Rhizomelia, Micrognathia, G... OMIM:602398
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Tibial bowing, Irregular vertebral e... OMIM:143095
Non-Syndromic Bicoronal Craniosynostosis
Metacarpal synostosis, Hearing impairment, Brachydactyly ORPHA:35099
Cenani-Lenz Syndactyly Syndrome
Premature loss of permanent teeth, Hypoplasia of the ulna, Micrognathia, Pectus excavatum, Hypopl... OMIM:212780
Hajdu-Cheney Syndrome
Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, Coarse hair, ... ORPHA:955
Genitopalatocardiac Syndrome
Low-set ears, Cleft upper lip, Cleft palate, Micrognathia OMIM:231060
Heimler Syndrome 1
Enamel hypoplasia, Sensorineural hearing impairment, Amelogenesis imperfecta OMIM:234580
Intellectual Developmental Disorder, Autosomal Dominant 2
Cholesteatoma OMIM:614113
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Anteverted nares, Cleft upper lip, Sensorineural hearing impairment, Wi... OMIM:243310
Moebius Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor... ORPHA:570
Bone Marrow Failure Syndrome 3
Hyperactivity, Congenital hip dislocation, Hearing impairment, Micrognathia, Cupped ear, Oral ulc... OMIM:617052
Say Syndrome
Macrotia, Short distal phalanx of finger, Cleft palate, Micrognathia OMIM:181180
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... OMIM:619322
Split Lower Lip
Abnormal lower lip morphology, Lower lip pit, Abnormality of the dentition, Narrow maxilla OMIM:183400
Diabetic Embryopathy
Low-set, posteriorly rotated ears, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the abdomin... ORPHA:1926
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Micrognathia, Broad nasal tip, Abdominal distention, Alveolar ridge ove... ORPHA:1655
Cockayne Syndrome A
Mandibular prognathia, Slender nose, Hip contracture, Abnormal pinna morphology, Delayed eruption... OMIM:216400
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Micrognathia, Kyphosis, Sensorineural hearing impairment, Wide nasal bridge, Protrudi... ORPHA:2479
Tetramelic Monodactyly
Split hand, Oligodactyly ORPHA:2564
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Conical tooth, Pectus excava... OMIM:263750
Nabais Sa-De Vries Syndrome, Type 1
Neonatal respiratory distress, Depressed nasal bridge, Prominent nasal bridge, Gastrostomy tube f... OMIM:618828
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Depressed nasal bridge, Craniosynostosis, Low-set ears, Short nose OMIM:614732
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Prominent nasal bridge, Cleft soft palate, Underdeveloped nasal alae, Pectus excavatum, Broad nas... ORPHA:268261
Cranioectodermal Dysplasia 1
High, narrow palate, Protruding ear, High palate, Narrow chest, Widely spaced teeth, Microdontia,... OMIM:218330
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Blepharo-Cheilo-Odontic Syndrome
Abnormal hair quantity, Finger syndactyly, Carious teeth, Bilateral cleft lip and palate, Conduct... ORPHA:1997
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Dysphagia, Neonatal death, Pul... OMIM:619751
Achondrogenesis, Type Ia
Micromelia, Beaded ribs, Abnormal hand bone ossification, Narrow chest, Flaring of rib cage, Unos... OMIM:200600
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Tongue fasciculations, Respiratory distress, Respiratory insuffi... ORPHA:238329
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Wide nasal bridge, De... ORPHA:521445
Ogden Syndrome
Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, High, narrow palate, S... ORPHA:276432
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Esophageal stricture, Stenosis of the external auditory can... ORPHA:79409
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Hearing impairment, Abnormality of ... ORPHA:1856
Teebi Hypertelorism Syndrome 1
Natal tooth, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Dental crowding,... OMIM:145420
Phaver Syndrome
Depressed nasal bridge, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short... ORPHA:2876
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... OMIM:185700
Lathosterolosis
Abnormal thoracic spine morphology, Prominent metopic ridge, Anteverted nares, Micrognathia, Bulb... ORPHA:46059
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Mandibular prognathia, Osteopenia, Thickened ribs, Pectus carinatum,... ORPHA:309282
Cardioacrofacial Dysplasia 2
Mandibular prognathia, Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu... OMIM:619143
Lethal Acantholytic Erosive Disorder
Natal tooth, Abnormal pinna morphology, Cleft palate, Abnormal helix morphology, Camptodactyly of... ORPHA:158687
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Tented upper lip vermilion, Depressed nasal bridge, Thoracolumbar scoliosis, Craniosy... OMIM:616723
Trigonocephaly 1
Craniosynostosis, High, narrow palate, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosi... OMIM:190440
Adnp Syndrome
Respiratory distress, Oral-pharyngeal dysphagia, Protruding ear, Gastroesophageal reflux, Vomitin... ORPHA:404448
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Sensorineural hearing impairment, Ga... ORPHA:1435
Ohdo Syndrome, Sbbys Variant
Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Bulbous... OMIM:603736
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Camptodactyly of finger, Hypoplasia of the musculature, Pectus excavatum, ... ORPHA:1101
Acromicric Dysplasia
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Bulbous nose, Cone-shaped epiphysis, ... OMIM:102370
Pontocerebellar Hypoplasia, Type 2E
Wide nose, Micrognathia, Flexion contracture, Optic atrophy, Osteoporosis, Large earlobe, Scolios... OMIM:615851
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Short palm, Thin upper lip vermilion, Depressed nasal bridge, Convex nasal ridge, Posteriorly rot... OMIM:241410
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... OMIM:605809
Okur-Chung Neurodevelopmental Syndrome
Anteverted nares, Single transverse palmar crease, Broad hallux, Micrognathia, Protruding tongue,... OMIM:617062
Mosaic Trisomy 1
Thoracic scoliosis, Cerebellar vermis hypoplasia, Single transverse palmar crease, Finger clinoda... ORPHA:1692
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... OMIM:619503
W Syndrome
Hypoplasia of the ulna, Depressed nasal bridge, Broad nasal tip, Elbow dislocation, Submucous cle... ORPHA:2804
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Thickened helices, Mi... ORPHA:1587
Distal Renal Tubular Acidosis
Osteomalacia, Poor appetite, Respiratory insufficiency due to muscle weakness, Diarrhea, Sensorin... ORPHA:18
Microcephaly 13, Primary, Autosomal Recessive
Subglottic stenosis, Prominent nose, Micrognathia, Small hand, Short foot, Macrotia OMIM:616051
Distal Duplication 5Q
Prominent nasal bridge, Craniosynostosis, Micrognathia, Carious teeth, Thin vermilion border, Low... ORPHA:96097
Coffin-Siris Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Hyperactivity, Joint laxity, Depressed nasal... ORPHA:1465
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Optic atrophy, Oligodontia, Hypodontia, Autonomic bladder dysfunction,... ORPHA:447896
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micromelia, Micrognathia, Short neck, Prominent nose, Long nose, Abnormal finger morphology, Abno... ORPHA:2636
Chromosome 9P Deletion Syndrome
Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia... OMIM:158170
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79405
Down Syndrome
Joint laxity, Aganglionic megacolon, Depressed nasal bridge, Protruding tongue, Abnormality of th... ORPHA:870
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hearing impairment, Abnormality of the dentition, Carious teeth, Long nose, Thin lower lip vermil... ORPHA:363444
Craniofacial Microsomia 1
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... OMIM:164210
Osteogenesis Imperfecta, Type X
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Narrow chest,... OMIM:613848
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Bicoronal synostosis, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Ano... OMIM:619718
Plaa-Associated Neurodevelopmental Disorder
Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Tented upper lip verm... ORPHA:521426
Distal Duplication 17Q
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Hyperactivity, Joint laxity, Depress... ORPHA:3379
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bo... OMIM:600384
Diamond-Blackfan Anemia 21
Hallux valgus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, Short toe, Sy... OMIM:620072
Wahab Syndrome
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... OMIM:615170
Osteogenesis Imperfecta, Type Xx
Mandibular prognathia, Tented upper lip vermilion, Posteriorly rotated ears, Kyphoscoliosis, Mult... OMIM:618644
Icf Syndrome
Communicating hydrocephalus, Depressed nasal bridge, Protruding tongue, Micrognathia, Malabsorpti... ORPHA:2268
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Abdominal distention, Osteoporosis ORPHA:369
16Q24.3 Microdeletion Syndrome
Anteverted nares, Optic nerve hypoplasia, Micrognathia, Kyphosis, Dysphagia, Protruding ear, Wide... ORPHA:261250
Shaheen Syndrome
Carious teeth, Enamel hypoplasia OMIM:615328
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Short neck, Sandal gap, Fi... OMIM:614800
Synaptic Congenital Myasthenic Syndromes
Mandibular prognathia, Waddling gait, Abnormality of the knee, Respiratory distress, Hypoventilat... ORPHA:98915
Marbach-Schaaf Neurodevelopmental Syndrome
Thin upper lip vermilion, Torticollis, Depressed nasal bridge, Posteriorly rotated ears, Broad na... OMIM:619680
Stankiewicz-Isidor Syndrome
Hyperactivity, Prominent nose, Micrognathia, Short thumb, Absent thumb, Abnormal optic disc morph... OMIM:617516
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... ORPHA:3320
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... ORPHA:2975
7Q11.23 Microduplication Syndrome
Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Abnormal op... ORPHA:96121
Amelogenesis Imperfecta, Type Ik
Enamel hypoplasia, Amelogenesis imperfecta OMIM:620104
C Syndrome
Fused sternal ossification centers, Posteriorly rotated ears, Anteverted nares, Accessory oral fr... OMIM:211750
Warburg Micro Syndrome 3
Kyphoscoliosis, Micrognathia, Inability to walk, Flexion contracture, Narrow palate, Ankle clonus... OMIM:614222
Harel-Yoon Syndrome
Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Feeding difficulties, Scoliosis, ... OMIM:617183
Kury-Isidor Syndrome
Finger syndactyly, Alopecia, Anteverted nares, Rocker bottom foot, Proximal placement of thumb, S... OMIM:619762
Hajdu-Cheney Syndrome
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Conductive hearing impairment, Pre... OMIM:102500
Cole-Carpenter Syndrome
Communicating hydrocephalus, Delayed eruption of teeth, Abnormal dental enamel morphology, Recurr... ORPHA:2050
Mucolipidosis Type Ii
Knee flexion contracture, Otitis media, Conductive hearing impairment, Prominent metopic ridge, D... ORPHA:576
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... OMIM:301040
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... ORPHA:2521
Spinocerebellar Ataxia-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Genu recurvatum, Anteverted nares, Reduced bone mineral densit... ORPHA:1185
Holoprosencephaly 2
Aplasia of the nasal bone, Median cleft lip and palate, Aplasia of the premaxilla, Proboscis, Alo... OMIM:157170
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Posteriorly rotated ears, Depressed nasal bridge, Choanal atresia, Aggressive behavior, Celiac di... ORPHA:284169
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
High anterior hairline, Prominent antitragus, Sparse lateral eyebrow, Brachydactyly OMIM:618879
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Uplifted earlobe, Short philtrum, Widely spaced teeth, Conductive hearing impairment, Depressed n... OMIM:280000
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Sparse eyelashes, Craniosynostosis, Under... OMIM:250410
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, Narrow greater sciatic n... ORPHA:508533
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... ORPHA:93384
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... ORPHA:957
Mucopolysaccharidosis, Type Vii
Flexion contracture, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Anterior beaking ... OMIM:253220
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Micrognathia, Wide nasal bridge, Hypoplastic nasal tip, Protruding ear,... ORPHA:3304
Celiac Disease, Susceptibility To, 1
Ataxia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Vo... OMIM:212750
Steatocystoma Multiplex With Natal Teeth
Natal tooth OMIM:184510
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... OMIM:300106
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... ORPHA:103907
Leukodystrophy, Hypomyelinating, 10
Anteverted nares, Inability to walk, Bulbous nose, Thin vermilion border, Low-set ears, Long phil... OMIM:616420
Hennekam-Beemer Syndrome
Wide nose, Camptodactyly of finger, Pneumonia, Abdominal pain, Micrognathia, Long nose, Thick low... ORPHA:2135
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly, Aplasia... ORPHA:945
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... OMIM:609616
Micro Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Joint stiffness, Kyphosis, Opt... ORPHA:2510
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Reduced bone mineral ... ORPHA:742
Ayme-Gripp Syndrome
Mandibular prognathia, Broad eyebrow, Sparse scalp hair, Depressed nasal bridge, Delayed cranial ... OMIM:601088
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Abdominal distention, Dyspnea, Chronic diarrhea, Asthma, Bron... OMIM:620233
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, ... ORPHA:1974
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Cartilage-Hair Hypoplasia
Micromelia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Pectus carinatum, Narro... ORPHA:175
Diamond-Blackfan Anemia
Depressed nasal bridge, Cleft soft palate, Micrognathia, Absent thumb, Cleft lip, Short thumb, Wi... ORPHA:124
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Micrognathia, Hyperlordosis, Narrow palate, Low poste... ORPHA:1323
2q37 monosomy
Brachydactyly DECIPHER:44
Deafness, X-Linked 7
Posteriorly rotated ears, Wide nasal bridge, Atresia of the external auditory canal, Stenosis of ... OMIM:301018
Wrinkly Skin Syndrome
Delayed eruption of teeth, Osteopenia, Decreased muscle mass, Congenital hip dislocation, Delayed... ORPHA:2834
Pseudoaminopterin Syndrome
Single transverse palmar crease, Limited elbow movement, Micrognathia, High palate, Synostosis of... ORPHA:221120
Cutis Laxa, Autosomal Recessive, Type Iiia
Wide cranial sutures, Congenital hip dislocation, Narrow nasal ridge, Large fontanelles, Hip disl... OMIM:219150
Carpenter Syndrome
Finger syndactyly, Syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... ORPHA:65759
Larsen Syndrome
Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short nail, Large joint dislocations, C... ORPHA:503
Fibrochondrogenesis 2
Anteverted nares, Micrognathia, Platyspondyly, Protuberant abdomen, Malar flattening, Short nose OMIM:614524
Familial Thyroid Dyshormonogenesis
Large posterior fontanelle, Depressed nasal bridge, Feeding difficulties in infancy, Delayed prox... ORPHA:95716
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Hydroc... OMIM:112240
3Q29 Microdeletion Syndrome
Dental crowding, Prominent nasal bridge, Aggressive behavior, Abnormality of the dentition, Orofa... ORPHA:65286
Restrictive Dermopathy
Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo... ORPHA:1662
Cerebrooculonasal Syndrome
U-Shaped upper lip vermilion, Encephalocele, Posteriorly rotated ears, Anteverted nares, Craniosy... OMIM:605627
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Hypoplasia of the maxilla, Hemivertebrae, Protruding ear, Downturned corners of mouth, Short phil... ORPHA:500150
Toluene Embryopathy
Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of the zygomatic bone, Low-set ea... ORPHA:1920
15q26 overgrowth syndrome
Mandibular prognathia, Micrognathia, Prominent nose, Short neck, Abnormal finger morphology, High... DECIPHER:81
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Short femur, Depressed nasal bridge, Anterior rib cupping, Micro... OMIM:211350
Chromosome 8Q21.11 Deletion Syndrome
Syndactyly, Short metacarpal, Underdeveloped nasal alae, Micrognathia, Short neck, Sensorineural ... OMIM:614230
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Dyspnea, Abdominal distention OMIM:174050
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Posteriorly rotated ears, Aganglionic megacolon, Prominent nasal bridge, Bulbous nose, Flexion co... OMIM:613870
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Micrognathia, Feeding difficulties in infancy, Nasogastric tube feeding in ... ORPHA:177907
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Dental crowding, Micrognathia, Kyphosis, Sensorineural hearing impairment, Osteoporosis, Scoliosi... OMIM:615381
Self-Improving Dystrophic Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79411
Autosomal Dominant Robinow Syndrome
Micromelia, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Coxa vara, Abnormal for... ORPHA:3107
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Syndactyly, Depressed nasal bridge, Megalencephaly, Hydrocephalus, Large earlobe, Polydactyly, Ca... OMIM:602501
Waardenburg Syndrome, Type 1
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ... OMIM:193500
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence, Choanal ste... OMIM:620183
Hyperparathyroidism, Transient Neonatal
Osteopenia, Respiratory distress, Wide cranial sutures, Communicating hydrocephalus, Anteverted n... OMIM:618188
Faciodigitogenital Syndrome, Autosomal Recessive
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, P... OMIM:227330
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... OMIM:308050
Radio-Renal Syndrome
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ... ORPHA:3015
Chromosome 17Q12 Duplication Syndrome
Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Smooth philtrum OMIM:614526
Velocardiofacial Syndrome
Underdeveloped nasal alae, Aggressive behavior, Bulbous nose, Velopharyngeal insufficiency, Submu... OMIM:192430
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Lobulated tongue, Coarse hair, High palate, Clinodactyly of the 5th f... ORPHA:2750
19P13.13 Microdeletion Syndrome
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abdominal pain, Narrow mouth,... ORPHA:357001
Macs Syndrome
Alopecia, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Diffuse white matter abn... OMIM:613075
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Hypoplastic scapulae, Depressed... ORPHA:1512
Intellectual Developmental Disorder, Autosomal Recessive 78
Microretrognathia, Kyphoscoliosis, Microcephaly, Sensorineural hearing impairment, High palate, C... OMIM:620237
Hyperphosphatasia-Intellectual Disability Syndrome
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Prominent nasal bridge,... ORPHA:247262
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Compulsive behaviors... OMIM:135900
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Anteverted nares, Depressed nasal bridge, Carious te... ORPHA:1051
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Narrow ... OMIM:277600
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Weismann-Netter Syndrome
Calvarial hyperostosis, Kyphosis, Delayed eruption of permanent teeth, Scoliosis OMIM:112350
Distal Deletion 6P
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Abn... ORPHA:96125
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral bodies, ... OMIM:252940
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Subcortical cerebral atrophy, Sparse hair, Agenesis of corpus callosum, Abnormal vertebral morpho... ORPHA:2273
Short Syndrome
Alopecia, Abnormal dental enamel morphology, Abnormal zygomatic bone morphology, Sensorineural he... ORPHA:3163
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Intestinal malrotat... ORPHA:457193
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Prominent nose, Microcephaly, Wide nasal bridge, Symphalangism affecting the phalanges of the han... ORPHA:1292
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Meier-Gorlin Syndrome 6
Microretrognathia, Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Underdevel... OMIM:616835
Carpenter Syndrome 2
Single transverse palmar crease, Short neck, High, narrow palate, Preaxial polydactyly, Low anter... OMIM:614976
White Forelock With Malformations
Low-set, posteriorly rotated ears, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility... ORPHA:2475
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Thin upper lip vermilion, Underfolded helix, Intestinal malrotation, Posteriorly rotated ears, Pr... OMIM:618316
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Finger syndactyly, Toe syndactyly, Arachnodactyly, Intestinal pseudo-obstruction, Cerebral calcif... ORPHA:73246
Gabriele-De Vries Syndrome
Posteriorly rotated ears, Facial hypotonia, Broad nasal tip, Micrognathia, Abnormality of the den... OMIM:617557
Developmental Delay With Or Without Dysmorphic Facies And Autism
Micrognathia, Short philtrum, Compulsive behaviors, Anteverted nares, Depressed nasal bridge, Cle... OMIM:618454
46,Xy Sex Reversal 4
Distal symphalangism, Anteverted nares, Prominent nose, Micrognathia, Sensorineural hearing impai... OMIM:154230
Say-Barber-Miller Syndrome
Micrognathia, Patellar hypoplasia, Protruding ear, Knee flexion contracture, High palate, Low-set... ORPHA:3132
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Nipah Virus Disease
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Vertigo, Cough ORPHA:99825
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia, Malabsorption ORPHA:99811
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscol... ORPHA:488642
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent fractures, Premature loss of primary teeth, Craniosynostosis... ORPHA:667
Idiopathic Congenital Hypothyroidism
Large posterior fontanelle, Depressed nasal bridge, Feeding difficulties in infancy, Delayed prox... ORPHA:95717
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Posteriorly rotated ears, Camptodactyly of finger, Prominent nose, Long nose, Micrognathia, Bulbo... ORPHA:3047
8P23.1 Microdeletion Syndrome
Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, External ear malformation,... ORPHA:251071
Even-Plus Syndrome
Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Coronal cleft vertebrae, Microtia, Hi... OMIM:616854
Basel-Vanagaite-Smirin-Yosef Syndrome
Mandibular prognathia, Single transverse palmar crease, High, narrow palate, Cavum septum pelluci... ORPHA:464738
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Non-midline cleft lip, Meningocele, Depressed nasal ridge, Absent nasal septal cartilage, Hip dis... ORPHA:2003
Hypophosphatasia, Adult
Arthropathy, Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss... OMIM:146300
Distal Triplication 15Q
Craniosynostosis, Micrognathia, Kyphosis, Hydrocephalus, Cupped ear, Sensorineural hearing impair... ORPHA:314588
Mgat2-Cdg
Osteopenia, Low-set, posteriorly rotated ears, Respiratory distress, Gastroparesis, Posteriorly r... ORPHA:79329
Tetrasomy 18P
Low-set, posteriorly rotated ears, Narrow mouth, Thin vermilion border, Gait disturbance, Scolios... ORPHA:3307
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, High, narrow palate, Dyspnea, Feeding difficulties, Wide mout... ORPHA:2707
Rabin-Pappas Syndrome
Mandibular prognathia, Optic nerve hypoplasia, Tracheomalacia, Micrognathia, Broad nasal tip, Hyd... OMIM:620155
Ichthyosis, Congenital, Autosomal Recessive 11
Conical primary incisor OMIM:602400
Seckel Syndrome
Convex nasal ridge, Abnormal dental enamel morphology, Micrognathia, Craniosynostosis, Abnormal e... ORPHA:808
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... OMIM:108760
Encephalopathy Due To Sulfite Oxidase Deficiency
Nausea and vomiting, Ataxia, Feeding difficulties in infancy, Thick vermilion border, Long philtr... ORPHA:833
Peho Syndrome
Anteverted nares, External ear malformation, Open mouth, Hydrocephalus, Flexion contracture, Limi... ORPHA:2836
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, Anteverted nares, High, narrow palate, Hydrocepha... OMIM:612863
Trichothiodystrophy
Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Crani... ORPHA:33364
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
2Q37 Microdeletion Syndrome
Short neck, Short palm, Clinodactyly of the 5th finger, Conductive hearing impairment, Broad colu... ORPHA:1001
Treacher Collins Syndrome 3
Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... OMIM:248390
Heart-Hand Syndrome, Slovenian Type
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Short nose ORPHA:1355
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Celiac disease, Bulbous nose, Macrotia, Rib fusion, Sensorineural hearing im... ORPHA:544488
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Cleft palate, Absent or minimally ossified vertebral bodi... ORPHA:66637
Pachyonychia Congenita
Natal tooth, Angular cheilitis, Ear pain, Advanced eruption of teeth, Oral leukoplakia ORPHA:2309
Meckel Syndrome 12
Anteverted nares, Micrognathia, Wide nasal bridge, Antecubital pterygium, Low-set ears, Arthrogry... OMIM:616258
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Micrognathia, Abnormality of... ORPHA:2785
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Hypoplastic... OMIM:619512
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... ORPHA:3044
Lacrimoauriculodentodigital Syndrome
Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s... ORPHA:2363
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Optic atrophy, Hip dislocation, Oligodontia, Hypodontia, ... OMIM:614381
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Megalencephaly, ... OMIM:613603
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Abnormal optic... ORPHA:508498
Skin Creases, Congenital Symmetric Circumferential, 1
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Pectus excavatum, Cleft palate, H... OMIM:156610
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Cleft palate, Webbed neck, Clinodactyly of th... OMIM:244600
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Dermatoglyphic ridges abnormal, Small thenar eminence, T... OMIM:211960
8Q21.11 Microdeletion Syndrome
Wide nose, Exaggerated cupid's bow, Camptodactyly of finger, Underdeveloped nasal alae, Micrognat... ORPHA:284160
Viss Syndrome
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Gastroesophageal ... OMIM:619472
White-Kernohan Syndrome
Joint laxity, Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed n... OMIM:619426
Arthrogryposis Multiplex Congenita 5
11 pairs of ribs, Optic disc pallor, Death in infancy, Anteverted nares, Kyphoscoliosis, Microgna... OMIM:618947
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention, Hip dislocation, Hemivertebrae, Flat acetabular roof, Difficulty walking, S... OMIM:619345
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Microcephaly, Kyphosis,... ORPHA:3121
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... OMIM:619752
Fetal Hydantoin Syndrome
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa... ORPHA:1912
Anti-Glomerular Basement Membrane Disease
Arthritis, Persistence of primary teeth ORPHA:375
Kapur-Toriello Syndrome
Posteriorly rotated ears, Intestinal malrotation, Bulbous nose, Orofacial cleft, Atresia of the e... ORPHA:2328
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Micrognathia, Calf muscle... OMIM:121050
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali... ORPHA:2031
19Q13.11 Microdeletion Syndrome
Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Supernumerary nipple, Underdevelop... ORPHA:217346
Gaucher Disease Type 2
Respiratory distress, Flexion contracture, Dysphagia, Cough, Abnormal pattern of respiration ORPHA:77260
Autosomal Dominant Spondylocostal Dysostosis
Anteverted nares, Missing ribs, Hyperlordosis, Short thorax, Abnormal rib morphology, Wide nasal ... ORPHA:1797
Peutz-Jeghers Syndrome
Nasal polyposis, Rectal prolapse, Multiple gastric polyps, Oral melanotic macule, Hamartomatous p... OMIM:175200
Intellectual Disability-Short Stature-Hypertelorism Syndrome
Clinodactyly of the 5th finger, Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares ORPHA:3074
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Intermittent hyperventilation, Prominent nasal bridge, Micrognathia, Broad nasal tip, Sensorineur... OMIM:300749
Silver-Russell Syndrome 3
Syndactyly, Small hand, Antecubital pterygium, Low-set ears, Clinodactyly of the 5th finger, Retr... OMIM:616489
Deeah Syndrome
High palate, Short philtrum, Death in childhood, Self-mutilation, Death in infancy, Neonatal resp... OMIM:619004
Simpson-Golabi-Behmel Syndrome
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, High, narrow ... ORPHA:373
Specc1L-Related Hypertelorism Syndrome
Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Orofacial cleft, Thin ver... ORPHA:1519
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dentition, Hypoplasia... ORPHA:238468
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Avascular necrosis of the capital... OMIM:132400
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Calcinosis, Short metacarpal, Short fifth metatarsal, Depressed nasal ... ORPHA:79443
Multiple Synostoses Syndrome 4
Otosclerosis, Tarsal synostosis OMIM:617898
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Joint contracture, Kyphoscoliosis OMIM:617977
Microphthalmia, Syndromic 2
Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Contracture of the proximal inter... OMIM:300166
Opsismodysplasia
Posteriorly rotated ears, Anteverted nares, Depressed nasal bridge, Large fontanelles, Flat aceta... OMIM:258480
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi... OMIM:132450
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormal pinna morphology, Micrognathia, Optic atrophy, Gingival overgrowth, Short philtrum, Scol... ORPHA:480898
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac... ORPHA:536471
Congenital Disorder Of Glycosylation, Type Iic
Microcephaly, Bulbous nose, Widow's peak, Short foot, Recurrent otitis media, Cerebral cortical a... OMIM:266265
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, 4-5 toe... OMIM:613573
Stromme Syndrome
Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Optic nerve hypopl... OMIM:243605
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Incontinentia Pigmenti
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Camptod... ORPHA:464
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Microcephaly, C... ORPHA:1110
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Depressed nasal bridge, Small abnormally fo... ORPHA:140
Kaufman Oculocerebrofacial Syndrome
Thin upper lip vermilion, Optic disc pallor, Congenital hip dislocation, Anteverted nares, Depres... OMIM:244450
Congenital Disorder Of Glycosylation, Type Iil
Death in infancy, Hydrocephalus, Esophageal varix, Optic atrophy, Inflammation of the large intes... OMIM:614576
Erythrokeratodermia Variabilis
Alopecia, Hearing impairment, Tapered finger, Abnormal hair morphology, Microcephaly, Patchy palm... ORPHA:317
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Osteoarthritis, Reduced bone mineral densi... ORPHA:740
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Depressed nasal bridge, Osteomalacia, Hiatus hernia, Micrognathia,... ORPHA:1901
Choanal Atresia
Respiratory distress, Subglottic stenosis, Craniosynostosis, Upper airway obstruction, Feeding di... ORPHA:137914
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Feeding difficulties, High palate, Neonatal death, Retrog... OMIM:300219
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Cleft palate, Stillbirth, Protuberant ab... OMIM:200610
Arterial Tortuosity Syndrome
Respiratory distress, Craniosynostosis, Hiatus hernia, Abnormal zygomatic bone morphology, Pylori... ORPHA:3342
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Anteverted nares, Posteriorly rotated ears, Hearing impairment, Broad nasal tip, Basal ganglia ca... OMIM:617763
Dyggve-Melchior-Clausen Disease
Hyperactivity, Respiratory insufficiency due to muscle weakness, Inability to walk, Abnormality o... ORPHA:239
Weyers Acrofacial Dysostosis
Postaxial hand polydactyly, Postaxial foot polydactyly, Prominent antihelix, Short palm, Clinodac... OMIM:193530
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Depressed nasal bridge, Broad nasal tip, Micrognathia, Protruding ton... OMIM:619777
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Choanal atresia, Abdominal distention, Secretory diarrhea, Cleft palate, ... OMIM:270420
Primary Effusion Lymphoma
Dyspnea, Abdominal distention, Pleural effusion, Abdominal pain ORPHA:48686
Brachydactylous Dwarfism, Mseleni Type
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond... ORPHA:2619
Chromosome 14Q11-Q22 Deletion Syndrome
Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Inability to walk, Wide nasal brid... OMIM:613457
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Laryngeal stenosis, Hyperlordosis, Abdominal distention, Delayed epiphyseal ossific... ORPHA:93352
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... ORPHA:1145
Pallister-Hall Syndrome
Depressed nasal ridge, Hemivertebrae, Holoprosencephaly, Bifid uvula, Paroxysmal bursts of laught... ORPHA:672
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Abnormally ossified vertebrae, Short femur, Lumbar hyperlordosis, Limited el... ORPHA:94068
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... OMIM:119100
Chromosome 2Q35 Duplication Syndrome
Sagittal craniosynostosis, 2-3 toe syndactyly, Cutaneous syndactyly, 3-4 finger syndactyly, Dista... OMIM:185900
Silver-Russell Syndrome 1
Syndactyly, Micrognathia, Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger,... OMIM:180860
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Flexion contracture of finger, Anteverted nares, Depressed nasal bridge, Exaggerate... ORPHA:254528
Chromosome 16P13.3 Duplication Syndrome
Tented upper lip vermilion, Micrognathia, Tracheobronchomalacia, Protruding ear, Microdontia, Bif... OMIM:613458
Mosaic Variegated Aneuploidy Syndrome 2
Depressed nasal bridge, Craniosynostosis, Micrognathia, Hearing impairment, Narrow mouth, Bulbous... OMIM:614114
Autosomal Recessive Cutis Laxa Type 1
Joint laxity, Wide anterior fontanel, Pyloric stenosis, Pneumothorax, Hip dislocation, Recurrent ... ORPHA:90349
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Pectus excavatum, Bifid nasal tip, Bilateral cleft lip and palate, High... OMIM:618874
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Ataxia, Abdominal pain, Feeding difficulties, Respiratory failure, Progress... OMIM:620166
Cockayne Syndrome B
Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e... OMIM:133540
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Clinodactyly, Hypoplastic pubic bone, C... OMIM:184250
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Choanal atresia, Malabsorption, Abd... ORPHA:92050
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Depressed nasal bridge, Rocker bottom foot, Hearing impairment, Tapered finger, Posteriorly rotat... OMIM:601353
Lethal Congenital Contracture Syndrome 9
Micrognathia, Flexion contracture, Congenital contracture, Muscle fiber atrophy, Wrist flexion co... OMIM:616503
6P22 Microdeletion Syndrome
Finger syndactyly, Short neck, Hydrocephalus, Overfolded helix, Low-set ears, Clinodactyly, Heari... ORPHA:251046
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Anteverted nares, Depressed nasal bridge, Camptod... ORPHA:93473
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Respiratory distress OMIM:619466
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Progeria-Short Stature-Pigmented Nevi Syndrome
Thoracic scoliosis, Alopecia, Micrognathia, Microcephaly, Dental malocclusion, Low posterior hair... ORPHA:2959
Congenital Disorder Of Glycosylation, Type Iie
Death in infancy, Wide nose, Micrognathia, Protruding tongue, Neonatal asphyxia, Sensorineural he... OMIM:608779
Fg Syndrome 5
Depressed nasal bridge, Anteverted nares, Diastema, Chronic constipation, Metopic synostosis, Lon... OMIM:300581
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Sc... OMIM:118650
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral upper respiratory tract infections, Re... OMIM:619773
Baller-Gerold Syndrome
Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Malabsorption, Aplasia/Hypoplasia of t... ORPHA:1225
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hearing impairment, Feeding difficulties OMIM:616733
Santos Syndrome
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... OMIM:613005
Developmental And Epileptic Encephalopathy 95
Short fourth metatarsal, Brachydactyly, Posteriorly rotated ears, Single transverse palmar crease... OMIM:618143
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Flexion contracture, ... OMIM:301072
Neurodegeneration With Brain Iron Accumulation 2A
Ataxia, Micrognathia, Unsteady gait, Short nose, Hearing impairment OMIM:256600
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of pr... OMIM:149730
Rhiny
Short nose, Thin vermilion border, Anteverted nares OMIM:180360
Pelviscapular Dysplasia
Congenital hip dislocation, Redundant neck skin, Short femur, Hypoplastic scapulae, Short neck, H... ORPHA:93333
Warburg-Cinotti Syndrome
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Underdeveloped nasal alae, ... OMIM:618175
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... OMIM:612394
Heart-Hand Syndrome, Spanish Type
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly OMIM:140450
Oligomeganephronia
Branchial cyst, Hearing impairment, Micrognathia ORPHA:2260
Trichodental Dysplasia
Odontodysplasia, Hypodontia, Conical tooth OMIM:601453
Esophageal Atresia
Respiratory distress, Subglottic stenosis, Feeding difficulties in infancy, Gastrointestinal dysm... ORPHA:1199
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Hydrocephalus, Depressed nasal ridge, Thin ribs, Platyspondyly, Hyp... OMIM:300863
Camurati-Engelmann Disease
Delayed eruption of teeth, Skeletal muscle atrophy, Facial palsy, Anorexia, Hyperlordosis, Cariou... ORPHA:1328
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, ... OMIM:242900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Recurrent... ORPHA:508542
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Hearing abnormality, Os... OMIM:616507
Orofaciodigital Syndrome Viii
Syndactyly, Broad nasal tip, Bifid nasal tip, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Fibular Aplasia-Complex Brachydactyly Syndrome
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Microme... ORPHA:2639
Desbuquois Dysplasia 2
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S... OMIM:615777
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace... OMIM:617405
Van Esch-O'Driscoll Syndrome
Depressed nasal bridge, Impulsivity, Esophageal atresia, Spina bifida occulta, Tracheoesophageal ... OMIM:301030
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... OMIM:187601
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Micrognathia, Feeding difficulties, Short nose, Delayed cranial suture closure ORPHA:1129
Cog1-Cdg
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Osteopenia, Irregularity of vertebra... ORPHA:263508
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Generalized amyotro... OMIM:264090
Oromandibular Dystonia
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... ORPHA:93958
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Micrognathia, ... OMIM:614080
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Tarp Syndrome
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Pectus excavatum, Pierre-Robin... ORPHA:2886
Hypomelanosis Of Ito
Syndactyly, Alopecia, Microcephaly, Kyphosis, Cerebral atrophy, Hand polydactyly, Scoliosis, Radi... OMIM:300337
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Limb joint contracture, Enamel hypoplasia ORPHA:251393
22Q11.2 Deletion Syndrome
Micrognathia, Short philtrum, Conductive hearing impairment, Chronic otitis media, Small earlobe,... ORPHA:567
Inverted Duplicated Chromosome 15 Syndrome
Low-set, posteriorly rotated ears, Broad nasal tip, Microcephaly, Synophrys, 2-3 toe syndactyly, ... ORPHA:3306
Tetanus
Respiratory distress, Stiff neck, Bowel incontinence, Abdominal pain, Trismus, Tachypnea, Dysphagia ORPHA:3299
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones, Recurrent fractures ORPHA:2773
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia OMIM:254120
Poikiloderma With Neutropenia
Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Joint stiffness, Underdevelope... OMIM:604173
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Carious te... OMIM:615560
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Flexion contracture, Pectus carinat... OMIM:130070
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly OMIM:112410
Hallermann-Streiff Syndrome
Natal tooth, Choanal atresia, Recurrent fractures, Micrognathia, Underdeveloped nasal alae, High,... ORPHA:2108
Arterial Tortuosity Syndrome
Joint laxity, Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum, Hiatus hernia, Fle... OMIM:208050
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, External ear malformat... ORPHA:1647
Vacterl With Hydrocephalus
Absence of the sacrum, Microtia, third degree, Spina bifida, Micrognathia, Aqueductal stenosis, E... ORPHA:3412
Pfeiffer Syndrome Type 1
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... ORPHA:93258
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Advanced eruption of teeth, High palate OMIM:262190
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy, Feeding difficulties ORPHA:26792
Mosaic Variegated Aneuploidy Syndrome 1
Wide nose, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Hydr... OMIM:257300
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Macrotia, Gastritis, Wide nasal bridge, Micrognathia ORPHA:2575
Pfeiffer Syndrome Type 3
Respiratory distress, Depressed nasal bridge, Intestinal malrotation, Choanal atresia, Aqueductal... ORPHA:93260
Smith-Mccort Dysplasia 1
Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap... OMIM:607326
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Underdeveloped nasal alae, Microcephaly, Kyphosis, Limited elbow ex... OMIM:180870
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Thoracic hypoplasia, Micromelia, Lateral clavicle hook, Hypoplasia of the... OMIM:617895
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Nasogastric tube feedin... ORPHA:254864
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Donohue Syndrome
Abdominal distention, Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Low-set ears, M... OMIM:246200
Brachydactyly-Syndactyly Syndrome
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... OMIM:610713
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Coffin-Siris Syndrome 7
Sparse scalp hair, Wide nose, Depressed nasal bridge, Anteverted nares, Sagittal craniosynostosis... OMIM:618027
Fryns Syndrome
Tented upper lip vermilion, Broad ribs, Microretrognathia, Anteverted nares, Cleft upper lip, Eso... OMIM:229850
Blepharocheilodontic Syndrome 1
Choanal atresia, High anterior hairline, Cutaneous syndactyly, Neural tube defect, Sparse hair, C... OMIM:119580
Cranioectodermal Dysplasia 2
Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdontia, Simple ea... OMIM:613610
Faciocardiomelic Syndrome
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Cuboid-shaped vertebral bodie... OMIM:612731
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Micrognathia, Microcephaly, Kyphosis, Cleft palate, Protruding ear,... OMIM:619123
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Depressed nasal bridge, Posteriorly rotated ears, Aggressive behavior, Hyperlordosis, Cleft lip, ... OMIM:301066
Dominant Beta-Thalassemia
Depressed nasal bridge, Hypoplasia of the musculature, Abnormality of the dentition, Malar promin... ORPHA:231226
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Hearing abnormality, Humeroradial synostosis, Progressive fusion 2nd-5th pip j... OMIM:186570
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Jacobsen Syndrome
Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Pyloric stenosis, Hydrocephal... OMIM:147791
Catel-Manzke Syndrome
Joint dislocation, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Bifid uvula, Joint ... OMIM:616145
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... ORPHA:3472
Trichothiodystrophy 1, Photosensitive
Death in infancy, Intestinal obstruction, Malabsorption, Macrotia, Chronic diarrhea, Flexion cont... OMIM:601675
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Conductive hearing impairment, Short nose, Depressed nasal bridge, Low-set ears OMIM:616910
Maternal Phenylketonuria
Anteverted nares, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, Microcepha... ORPHA:2209
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Oligodactyly ORPHA:2440
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Protruding ear, Palmoplantar k... ORPHA:2251
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Meier-Gorlin Syndrome 2
Abnormal pinna morphology, Joint hypermobility, Underdeveloped nasal alae, Micrognathia, Patellar... OMIM:613800
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Hypotrichosis-Intellectual Disability, Lopes Type
Advanced eruption of teeth ORPHA:2266
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Thin bony cortex, Recurrent fractures, Joint hypermobility, Abnormality of the dent... OMIM:617952
Kniest Dysplasia
Arthropathy, Enlarged joints, Depressed nasal bridge, Joint stiffness, Delayed epiphyseal ossific... ORPHA:485
Mogs-Cdg
Respiratory distress, Absent brainstem auditory responses, Wide nose, Hypoventilation, Apnea, Tho... ORPHA:79330
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Short nose, Attention deficit hyperactivity disorder OMIM:245570
Fryns Syndrome
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Anteverted nares, Median cleft lip... ORPHA:2059
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, Short metatarsal, Tibial bowing, Tarsometatarsal synostosis, Abnormal v... OMIM:600383
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Conductive hearing impairment, Se... OMIM:618500
Jeune Syndrome
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Isolated Childhood Apraxia Of Speech
High, narrow palate, Overfolded helix, Submucous cleft hard palate ORPHA:209908
Menke-Hennekam Syndrome 2
Narrow nasal bridge, Thin upper lip vermilion, Depressed nasal bridge, Duodenal ulcer, Micrognath... OMIM:618333
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widely spaced primary... OMIM:257980
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Microcephaly, Small hand, Narrow palm, Holoprosencephaly, S... ORPHA:1445
Intellectual Developmental Disorder, Autosomal Recessive 65
Prominent metopic ridge, Abnormal pinna morphology, Prominent nasal bridge, Aggressive behavior, ... OMIM:618109
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Congenital hip dislocation, Pyloric stenosis, Short 5th finger, Atresia of the external auditory ... OMIM:133705
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Low-set... OMIM:300845
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Broad-based gait, Neonatal respiratory distress, Ataxia, Crackles, Asthma, ... OMIM:610978
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... ORPHA:1120
Jaberi-Elahi Syndrome
Broad-based gait, Depressed nasal bridge, Joint stiffness, Inability to walk, Kyphosis, Triangula... OMIM:617988
Alg6-Cdg
Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing enteropathy, Cere... ORPHA:79320
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Micrognathia, Flexion contracture, Protruding ear, Oligodontia, High palate, Short philtrum, Abno... OMIM:309590
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus, Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovag... ORPHA:3016
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Abnormality of the ear, Downturned corners of mouth, Hypoplastic vertebral bodies, Sh... ORPHA:3455
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Aplasia Cutis Congenita
Finger syndactyly, Toe syndactyly, Spinal dysraphism ORPHA:1114
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Absent vertebra, Ri... OMIM:134780
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Feeding diff... ORPHA:596
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Recurrent upper respiratory tract infections... ORPHA:60032
Craniofrontonasal Syndrome
Short neck, Clinodactyly of the 5th finger, Agenesis of corpus callosum, Broad hallux, Wide nasal... OMIM:304110
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv... OMIM:617425
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Cortical thickening of long bon... ORPHA:93324
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Choanal atresia, Micrognathia, Knee flexion contracture, Choanal ste... OMIM:156400
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Sandal gap, Malar prominence, Large earlobe, Hypoplasia of the zygomatic b... ORPHA:2715
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Anteverted nares, Micrognathia, Abnormal thorax morphology, Abnormal form ... ORPHA:73230
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
2-5 finger syndactyly, Hypoplasia of the pons, Cortical dysplasia, Simplified gyral pattern, Knee... ORPHA:468631
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Bilateral single transverse palmar creases,... ORPHA:2377
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Down-sloping shoulders, Micrognathia, Long nose, Cleft palate, Protruding ear, High palate, Low-s... OMIM:301091
Rothmund-Thomson Syndrome Type 2
Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Genu var... ORPHA:221016
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... OMIM:618618
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Carious teeth, Kyphosis, Flexion contracture, Adult o... ORPHA:90324
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Abdominal distention, Depressed... ORPHA:3003
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Subglottic stenosis, Micrognathia, Downturned corners of mouth, Glossoptosis, Gastroesophageal re... ORPHA:444077
Floating-Harbor Syndrome
Prominent nose, Short neck, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finge... OMIM:136140
Leri Pleonosteosis
Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal... ORPHA:2900
Tularemia
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Otitis m... ORPHA:3392
Mccune-Albright Syndrome
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... ORPHA:562
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Neuromuscular dysphagia, Falls, Respiratory distress ORPHA:240085
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... ORPHA:95427
Intellectual Developmental Disorder, Autosomal Dominant 59
Highly arched eyebrow, Protruding ear, Short foot, Low-set ears, Short palm, Brachydactyly OMIM:618522
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Syndactyly, Clinodactyly, Hearing impairment, Brachydactyly OMIM:610023
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Neonatal respiratory distress, Posteriorly rotated ears, Depressed nasal bridge, ... OMIM:619479
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Nail-Patella Syndrome
Decreased muscle mass, Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduce... ORPHA:2614
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Wide nose, Abnormal pinna morphology, Sensorineur... OMIM:607143
Nicolaides-Baraitser Syndrome
Dry hair, Enlarged joints, Single transverse palmar crease, High, narrow palate, Short metatarsal... OMIM:601358
8P11.2 Deletion Syndrome
Depressed nasal bridge, Micrognathia, External ear malformation, Anosmia, High palate, Supernumer... ORPHA:251066
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Mixed hearing impairment, Sensorineural hearing impairment, Abno... OMIM:118100
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness, Dysphagia OMIM:613561
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the dentition, Open bite... ORPHA:2907
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Ankle clonus, L... OMIM:619995
Congenital Disorder Of Glycosylation, Type Il
Depressed nasal bridge, Kyphosis, Hip dislocation, Wide mouth, Low-set ears, Long philtrum, Short... OMIM:608776
Heyn-Sproul-Jackson Syndrome
Short metacarpal, Microcephaly, Sparse hair, Broad phalanx, Short phalanx of finger, Broad metaca... OMIM:618724
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Syndactyly, Microcephaly, Scoliosis, Hypoplasia of the corpus callosum, Cerebral white matter hyp... OMIM:619091
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Joint dislocation, Generalized joint laxity, Protruding ear, High palate, Long philtrum, Joint la... OMIM:601776
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Short metacarpal, Short fifth metatarsal, Depressed nasal bridge, Cere... ORPHA:79444
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Short nose, Posteriorly rotated ears, Long philtrum OMIM:300887
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Hyperactivity, Depressed nasal bridge, Asthma, Wide mouth, Gait disturbance,... ORPHA:457485
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Kyphoscoliosis OMIM:619099
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Triphalangeal thumb, Abno... ORPHA:2378
Silver-Russell Syndrome
Low-set, posteriorly rotated ears, Dental crowding, Micrognathia, Feeding difficulties, Downturne... ORPHA:813
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Micrognathia, Feeding difficulties, Gait ataxia, Scoliosis, Short nose, Sp... ORPHA:496790
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Intestinal malrota... ORPHA:401935
Coxoauricular Syndrome
Micromelia, Hip dislocation, Reduced bone mineral density, Microtia, Atresia of the external audi... ORPHA:1508
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding diffi... ORPHA:927
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... OMIM:614749
Halperin-Birk Syndrome
Hearing impairment, Micrognathia, Congenital diaphragmatic hernia, Flexion contracture, Optic atr... OMIM:618651
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... ORPHA:2928
Sillence Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adduc... ORPHA:3168
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Hearing im... OMIM:302950
19P13.12 Microdeletion Syndrome
Short neck, Synophrys, Short palm, Conductive hearing impairment, Clinodactyly of the 5th finger,... ORPHA:254346
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Depressed nasal bridge, Aplasia/Hypoplasia of the cerebellum, Kyphoscoliosis, Hypoplasia of the p... ORPHA:397709
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Concave nasal ridge, Short philtrum, Cleft palate OMIM:617337
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Dental crowding, Persistence of primary teeth, Hiatus hernia, Recurrent upper respiratory tract i... OMIM:619769
Bohring-Opitz Syndrome
Low-set, posteriorly rotated ears, Joint dislocation, Prominent metopic ridge, Depressed nasal br... ORPHA:97297
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... ORPHA:1352
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas... OMIM:614900
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, J... OMIM:614008
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Low-set, posteriorly rotated ears, Abnormal rib morphology, Abnormal palate morphology ORPHA:1506
Oliver Syndrome
Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Microcephaly, Short toe, Po... ORPHA:2920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Feeding difficulties in infancy, Large fleshy ears, Gastroesophageal ... ORPHA:280633
Bloom Syndrome
Prominent nose, Recurrent upper respiratory tract infections, Agenesis of maxillary lateral incis... OMIM:210900
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Pectus carinatum, ... ORPHA:536545
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Familial Isolated Hypoparathyroidism
Delayed eruption of teeth, Myopathy, Abnormal dental enamel morphology ORPHA:2238
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Depressed nasal bridge, Feeding difficulties, High palate... OMIM:604377
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Cleft palate, High palate, A... ORPHA:1784
Cerebrofaciothoracic Dysplasia
Low-set, posteriorly rotated ears, Wide nose, Cleft upper lip, Rib fusion, Hemivertebrae, Cleft p... ORPHA:1394
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Restrictive Dermopathy 2
Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Feeding diffi... OMIM:619793
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... OMIM:620011
Summitt Syndrome
Syndactyly, Craniosynostosis OMIM:272350
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Cerebellar vermis hypoplasia, Short neck, High, narrow palate, Synophrys, Prominent protruding co... OMIM:300966
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv... OMIM:151200
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Aymé-Gripp Syndrome
Oligodontia, Prominent metopic ridge, Depressed nasal bridge, Microtia, Low-set ears, Narrow mout... ORPHA:1272
Menke-Hennekam Syndrome 1
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Protruding ea... OMIM:618332
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia, Micrognathia, Pectus excavatum, High palate, Stenosis of the ext... OMIM:619699
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal respiratory distress, Anteverted nares, Depressed nasal bridge, Dental crowding, Microgn... OMIM:619005
Peripheral Dysostosis
Clinodactyly of the 5th finger, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the han... ORPHA:1795
Peho Syndrome
Tented upper lip vermilion, Feeding difficulties in infancy, Short nose, Retrognathia, Open mouth OMIM:260565
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Abdominal distention, Delayed epiphyseal ossification, Platys... OMIM:602557
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Depressed nasal bridge, Di... ORPHA:94089
Kbg Syndrome
Short palm, Vertebral fusion, Tented upper lip vermilion, Anteverted nares, Prominent nasal bridg... OMIM:148050
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Interphalangeal joint contracture of finger, Abnormality of the denti... ORPHA:69087
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Blepharonasofacial Malformation Syndrome
Finger syndactyly, Wide nose, Hearing impairment, Underdeveloped nasal alae, Abnormal eyelash mor... ORPHA:1252
Cranioectodermal Dysplasia 3
Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sagittal cranios... OMIM:614099
Beta-Thalassemia Major
Depressed nasal bridge, Hypoplasia of the musculature, Abnormality of the dentition, Malar promin... ORPHA:231214
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Dental crowding, Poor appetite, Micrognathia, Feeding difficulties in infancy, High, narrow palat... ORPHA:96182
Aural Atresia, Congenital
Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal OMIM:607842
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... ORPHA:101030
Frontometaphyseal Dysplasia 2
Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Deep p... OMIM:617137
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short metacarpal, Redundant neck skin, Anteverted nares, Depressed nasal bridge, Brachydactyly, S... OMIM:617157
Baraitser-Winter Cerebrofrontofacial Syndrome
Prominent metopic ridge, Wide nose, Micrognathia, Joint stiffness, Prominent nose, Long nose, Lar... ORPHA:2995
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Mandibular prognathia, Protruding ear, High palate, Abnormal repetitive mannerisms, Bifid uvula, ... OMIM:620330
Monosomy 22
Low-set, posteriorly rotated ears, Finger syndactyly, Wide nose, Single transverse palmar crease,... ORPHA:96123
Dermotrichic Syndrome
Depressed nasal bridge, Aganglionic megacolon, Short nose, Macrotia, Abnormal vertebral morphology ORPHA:99688
Lathosterolosis
Anteverted nares, Micrognathia, Myelomeningocele, Osteoporosis, Wide nasal bridge, Gingival overg... OMIM:607330
1P21.3 Microdeletion Syndrome
Broad nasal tip, Micrognathia, Aggressive behavior, Abnormal eating behavior, Wide mouth, Self-in... ORPHA:293948
Cystic Fibrosis
Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Steatorrhea, Chronic sinusitis OMIM:219700
Fraser Syndrome 3
Wide nose, Micrognathia, Short toe, Hydrocephalus, Cutaneous syndactyly, Stillbirth, Low-set ears... OMIM:617667
Sepsis In Premature Infants
Abnormal mucociliary clearance, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Dys... ORPHA:90051
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Micrognathia, Trismus, Bulbous nose, Flexion contracture, Recurrent... OMIM:616271
Craniofaciofrontodigital Syndrome
Osteopenia, Joint laxity, Gastrointestinal hemorrhage, Respiratory distress, Depressed nasal brid... ORPHA:363705
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Myopathy, Abnormality of skeletal muscle fiber size, Skeletal muscle ... ORPHA:2348
Walker-Warburg Syndrome
Skeletal muscle atrophy, Posteriorly rotated ears, Hydrocephalus, Submucous cleft hard palate, Op... ORPHA:899
Atelis Syndrome 2
Prominent nose, Micrognathia, Diastema, Bulbous nose, Thick lower lip vermilion, Kyphosis, Protru... OMIM:620185
Heart-Hand Syndrome, Slovenian Type
Brachydactyly ORPHA:168796
Khan-Khan-Katsanis Syndrome
Tented upper lip vermilion, Delayed closure of the anterior fontanelle, Micrognathia, Sensorineur... OMIM:618460
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... OMIM:615287
Tetraamelia Syndrome 2
Microretrognathia, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, Low-set ears, A... OMIM:618021
Pterygium Colli, Isolated
Short nose, Protruding ear OMIM:177990
Alternating Hemiplegia Of Childhood
Respiratory distress, Ataxia, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Ab... ORPHA:2131
Jansen-De Vries Syndrome
Anteverted nares, Posteriorly rotated ears, Hyperlordosis, Small hand, Short foot, Low-set ears, ... OMIM:617450
Generalized Arterial Calcification Of Infancy
Respiratory distress, Stapes ankylosis, Mixed hearing impairment, Calcification of the auricular ... ORPHA:51608
Craniosynostosis 6
Delayed cranial suture closure, Craniosynostosis, Sensorineural hearing impairment, Right unilamb... OMIM:616602
Microtia With Meatal Atresia And Conductive Deafness
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment OMIM:251800
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Prominent nasal bridge, Micrognathia, Pectus excavatum, Kyphosis, Sensorineural hearing impairmen... OMIM:609944
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Posteriorly rotated ears, Short hallux, Supernumerar... ORPHA:3224
Sarcoidosis
Abnormal nasal mucosa morphology, Eosinophilia, Facial palsy, Bone cyst, Enlargement of parotid g... ORPHA:797
Malaria
Nausea and vomiting, Gait imbalance, Respiratory distress ORPHA:673
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Distal Deletion 3P
Low-set, posteriorly rotated ears, Anteverted nares, Micrognathia, Cleft palate, Downturned corne... ORPHA:1620
Tooth Agenesis, Selective, 3
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia OMIM:604625
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia ORPHA:3196
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Uplifted earlobe, Pectus excavatum, Pyloric ste... OMIM:235730
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Dyspnea, Oral ulcer, Arthritis, Vomiting, Pleural... ORPHA:93552
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar dislocation, Long philtrum, Mal... ORPHA:93328
Kenny-Caffey Syndrome, Type 1
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... OMIM:244460
Ulbright-Hodes Syndrome
Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpal, Depressed... ORPHA:3404
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Trismus, Feeding difficulties, Stridor, Gastroesophageal reflux, ... OMIM:230900
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, Feeding difficulties, High palate... OMIM:618005
Brain Malformations With Or Without Urinary Tract Defects
Thin upper lip vermilion, Anteverted nares, Narrow mouth, Metopic synostosis, Low-set ears, Overf... OMIM:613735
Double Outlet Right Ventricle
Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco... ORPHA:3426
Craniofacioskeletal Syndrome
Posteriorly rotated ears, Choanal atresia, Micrognathia, Microcephaly, Hypoplastic frontal sinuse... OMIM:300712
Aspartylglucosaminuria
Mandibular prognathia, Beaking of vertebral bodies, Abnormality of the dentition, Carious teeth, ... ORPHA:93
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia, Duodenal atresia ORPHA:3004
Renpenning Syndrome 1
Mandibular prognathia, Micrognathia, Protruding ear, High palate, Short philtrum, Death in childh... OMIM:309500
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Protruding ear, Vomiting, High palate, Otitis media, Tics, Compulsive behavi... OMIM:619475
Marinesco-Sjögren Syndrome
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microcephaly, Abnorm... ORPHA:559
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Downturned corners of mouth, Gastroesophageal reflux, Short philtrum, Widely spa... OMIM:301044
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Diarrhea, Gait ataxia, Feeding difficulties, Vomiting OMIM:612075
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Choanal stenosis, Atrichia, Death in childhood, Neonatal death, Dystrophic fingernails, Death in ... OMIM:308205
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress, Dysphagia ORPHA:240103
Thoracoabdominal Syndrome
Hydrocephalus, Cystic hygroma, Anencephaly, Cleft palate OMIM:313850
Genitopatellar Syndrome
Congenital hip dislocation, Prominent nose, Micrognathia, Knee flexion contracture, Anteriorly pl... OMIM:606170
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... ORPHA:2152
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Hypoplas... ORPHA:3186
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Gastrointestinal dysmotility, Downturned corners of mouth, Gastroesophageal reflux, Conductive he... ORPHA:466943
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Death in infancy, Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Arthrogr... OMIM:226730
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Vertigo, Choreoathetosis, Tip-toe gait, Scoliosis, Nausea ORPHA:37612
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract... OMIM:252930
Coffin-Lowry Syndrome
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Protruding ear, ... OMIM:303600
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Micrognathia, Underdeveloped nasal alae, Contracture of the distal interpha... ORPHA:83617
Niemann-Pick Disease, Type A
Feeding difficulties in infancy, Inability to walk, Osteoporosis, Athetosis, Constipation, Vomiti... OMIM:257200
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Smooth philtrum, Chronic lung disease, Acute respiratory distress syndrome, Depressed nasal bridg... OMIM:620005
Pancreatic Agenesis-Holoprosencephaly Syndrome
Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, Abnormal external no... ORPHA:556955
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Micrognathia, Fatty replacement of skeletal muscle, Flex... OMIM:255995
Shwachman-Diamond Syndrome
Delayed eruption of teeth, Osteopenia, Sinusitis, Osteomyelitis, Carious teeth, Abnormal joint mo... ORPHA:811
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Broad jaw, Subglottic stenosis, Exaggerated cupid's bow, Micrognathia, Bulbous nose, Wide mouth, ... OMIM:614501
Skin Creases, Congenital Symmetric Circumferential, 2
Short palm, Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Uplifted ... OMIM:616734
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly OMIM:604381
Isotretinoin Embryopathy-Like Syndrome
Micrognathia, Hydrocephalus, Cleft palate, Anotia, Microtia OMIM:243440
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Meningocele,... ORPHA:3265
Beaulieu-Boycott-Innes Syndrome
Micrognathia, Carious teeth, Long nose, Velopharyngeal insufficiency, Dental malocclusion, Low ha... OMIM:613680
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Holzgreve Syndrome
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... ORPHA:2167
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Hydrocephalus, Postaxial hand polydactyly, Cone-shaped epiphyses of... OMIM:615630
C Syndrome
Joint dislocation, Congenital diaphragmatic hernia, Micrognathia, Micromelia, High palate, Abnorm... ORPHA:1308
Martin-Probst Syndrome
Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental malocclusion, W... OMIM:300519
Degcags Syndrome
Osteopenia, Micrognathia, Oral-pharyngeal dysphagia, Prominent nose, Gastroesophageal reflux, Hig... OMIM:619488
Mend Syndrome
Microretrognathia, Hyperactivity, Posteriorly rotated ears, Prominent nasal bridge, Micrognathia,... OMIM:300960
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Knee osteoarthritis, ... ORPHA:93284
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... ORPHA:261537
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Narrow nasal ridge, Micrognathia, Proximal upper limb ... ORPHA:280365
Eiken Syndrome
Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip morphology, Delayed epip... ORPHA:79106
Birk-Barel Syndrome
Microretrognathia, Tented upper lip vermilion, High palate, Short philtrum, Dysphagia, Submucous ... OMIM:612292
Distal Deletion 9P
Low-set, posteriorly rotated ears, Short neck, High, narrow palate, Aplasia/Hypoplasia of the ear... ORPHA:1642
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Respiratory distress, Lumbar hyperlordosis, Abdominal pain, Dyspnea, Difficulty wa... ORPHA:86812
Craniosynostosis, Philadelphia Type
Finger syndactyly, Craniosynostosis ORPHA:1527
Curry-Jones Syndrome
Intestinal pseudo-obstruction, Agenesis of corpus callosum, Unicoronal synostosis, Lipomyelomenin... OMIM:601707
Duane-Radial Ray Syndrome
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... OMIM:607323
Congenital Nephrotic Syndrome, Finnish Type
Delayed eruption of permanent teeth ORPHA:839
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79410
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short nail, Short neck, Kyphosis, Partial ... ORPHA:420794
Odontomicronychial Dysplasia
Carious teeth, Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormalit... ORPHA:1811
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Prominent nose,... OMIM:612474
Schinzel-Giedion Midface Retraction Syndrome
Abnormal nasopharynx morphology, Long clavicles, Anteverted nares, Depressed nasal bridge, Increa... OMIM:269150
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysr... OMIM:617660
Trichothiodystrophy 4, Nonphotosensitive
Anteverted nares, Retrognathia, Hypoplasia of teeth, Short nose, Macrotia OMIM:234050
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Absent thumb, Esophageal atresia, Hydrocephalus, Absent radius,... OMIM:614083
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Underdeveloped antitragus, Abnormality of the dentition, Abnormal anti... ORPHA:2036
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Teeth Present At Birth
Natal tooth OMIM:187050
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Feeding difficulties, Choreo... ORPHA:79312
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Severe temper tantrums, T... OMIM:619854
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormal rib morphology, Join... ORPHA:2772
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Vomiting, Aggressive behavior OMIM:237310
Acromelic Frontonasal Dysplasia
Encephalocele, Broad nasal tip, Bifid nasal tip, Meningocele, Patellar hypoplasia, Hypoplasia of ... ORPHA:1827
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ... ORPHA:50251
Combined Oxidative Phosphorylation Deficiency 53
Death in infancy, Osteomyelitis, Abdominal distention, Arthritis, Death in childhood, Septic arth... OMIM:619423
Ramon Syndrome
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Sco... OMIM:266270
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Osteopenia, Respiratory distress, Congenital hip dislocation, Prominent nose, Abnormal periodonti... ORPHA:480880
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral den... ORPHA:970
Juberg-Hayward Syndrome
Wide nose, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elb... ORPHA:2319
Tetrasomy 9P
Joint dislocation, Myositis, Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth... ORPHA:3310
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... OMIM:618019
Brachydactyly Type E
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... ORPHA:93387
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome
Atresia of the external auditory canal, Hearing impairment ORPHA:3023
Acromelic Frontonasal Dysostosis
Encephalocele, Syndactyly, Tubulonodular pericallosal lipoma, Optic nerve hypoplasia, Broad nasal... OMIM:603671
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi... OMIM:602875
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... OMIM:250420
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Eosinophilia, Ankle swelling, Abdominal pain, Feeding diffic... ORPHA:3260
Fanconi Anemia
Micrognathia, Reduced bone mineral density, High palate, Hypoplasia of the ulna, Spina bifida, Ap... ORPHA:84
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Natal tooth, Oligodontia, Cranial hyperostosis, Hypodontia OMIM:601345
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Sensorineural hearing impairment, Brachydactyly ORPHA:3085
Paternal Uniparental Disomy Of Chromosome 6
Joint laxity, Prominent nose, Micrognathia, Gingival overgrowth, Abnormal earlobe morphology, Mac... ORPHA:96191
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Vertigo, Recurrent infection of the gastrointesti... ORPHA:51890
Chops Syndrome
Gastroparesis, Thickened helices, Anteverted nares, High, narrow palate, Downturned corners of mo... OMIM:616368
Corneodermatoosseous Syndrome
Abnormal dental enamel morphology, Abnormality of the hand, Hearing impairment, Carious teeth, Ab... ORPHA:3194
Wiedemann-Steiner Syndrome
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Abnormality of the elbow, Wide nasa... ORPHA:319182
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia, Aqueductal stenosis, Abnorma... ORPHA:3035
Denys-Drash Syndrome
Neonatal death, Wide anterior fontanel, Neonatal respiratory distress OMIM:194080
Faundes-Banka Syndrome
Thin upper lip vermilion, Underdeveloped nasal alae, Micrognathia, Bulbous nose, Cupped ear, Clef... OMIM:619376
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Carious teeth, Enamel hypoplasia OMIM:612843
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Cat-Eye Syndrome
Abnormal rib morphology, Anal atresia, Hearing impairment ORPHA:195
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Calcinosis, Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bo... ORPHA:2909
Buratti-Harel Syndrome
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... OMIM:619314
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Retrognathia, High palate, Joint hypermobility, Thin ribs ORPHA:456328
Ring Chromosome 7 Syndrome
Mandibular prognathia, Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of... ORPHA:1449
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Opsismodysplasia
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Squared iliac bones, Hypop... ORPHA:2746
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Microretrognathia, Short nose, Abnormal palate morphology, Long philtrum ORPHA:1389
1Q41Q42 Microdeletion Syndrome
Depressed nasal bridge, Congenital diaphragmatic hernia, Underdeveloped nasal alae, Broad nasal t... ORPHA:250999
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... ORPHA:70589
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... ORPHA:2141
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Jacobsen Syndrome
Short neck, Abnormal form of the vertebral bodies, Pachygyria, Agenesis of corpus callosum, Long ... ORPHA:2308
Adult Syndrome
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Prominent nasal bridge, Sparse scalp ... ORPHA:978
Microphthalmia, Syndromic 6
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli... OMIM:607932
Gm1 Gangliosidosis Type 1
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Pectus carinatum, H... ORPHA:79255
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor OMIM:616390
Dend Syndrome
Prominent metopic ridge, Anteverted nares, Downturned corners of mouth, Vomiting, Long philtrum, ... ORPHA:79134
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Limited pronation/su... ORPHA:1724
X-Linked Intellectual Disability, Armfield Type
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Abnormality of the elbow, Small hand... ORPHA:85276
Fraser Syndrome 2
Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Abdominal distention, Rectal atresi... OMIM:617666
Anemia, Congenital Dyserythropoietic, Type Iv
Wide anterior fontanel OMIM:613673
Bilateral Perisylvian Polymicrogyria
Choanal atresia, Protruding tongue, Pectus excavatum, Micrognathia, Flexion contracture, Abnormal... ORPHA:98889
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Osteoarthritis, Brachydactyly ORPHA:435804
Adult Syndrome
Sparse scalp hair, Toe syndactyly, Absent nipple, Fair hair, Sparse axillary hair, Split hand, Sp... OMIM:103285
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Thoracic hemivertebrae, Anal... ORPHA:1436
Burn-Mckeown Syndrome
Prominent nasal bridge, Wide nasal bridge, Bilateral choanal atresia, Short nose, Abnormal palate... ORPHA:1200
Fryns Microphthalmia Syndrome
Neural tube defect, Macrotia, Abnormality of the ear, Bilateral cleft lip and palate OMIM:600776
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Wide nasal bridge, Sho... OMIM:614376
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Genu recurvatum, Pectus excavatum, Uni... OMIM:619539
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Skeletal muscle atrophy, Optic disc pallor, Abno... ORPHA:191
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Porencephalic cyst, Long fibula, Narrow greater scia... OMIM:250220
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Nasogastric tube feeding in infancy, Irregular... ORPHA:99646
Ollier Disease
Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspondyly ORPHA:296
Charcot-Marie-Tooth Disease Type 1E
Hand muscle atrophy, Hand muscle weakness, Sensorineural hearing impairment, Split hand, Hammerto... ORPHA:90658
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Oral mucosal blisters, Esophageal stricture, Flexion contract... OMIM:226600
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... ORPHA:1517
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption OMIM:606824
Phosphoribosylaminoimidazole Carboxylase Deficiency
Anteverted nares, Depressed nasal bridge, Choanal atresia, Esophageal atresia, Tracheoesophageal ... OMIM:619859
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Absent nares, Hyposmia, Failure... ORPHA:2250
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint dislocation, Pectus carinatum, Protruding ear, Thick nasal alae, Joint... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint dislocation, Pectus carinatum, Protruding ear, Thick nasal alae, Joint... ORPHA:363958
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Flexion contracture,... ORPHA:261552
Multiple Synostoses Syndrome 2
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... OMIM:610017
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Bowel incontinence, Hyperlordosis, Feeding difficulties in infan... ORPHA:365
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose ORPHA:2835
Hypomelia With Mullerian Duct Anomalies
Postaxial hand polydactyly, Split hand OMIM:146160
Combined Oxidative Phosphorylation Deficiency 25
Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Wide nasal bridge, Fe... OMIM:616430
Stüve-Wiedemann Syndrome
Osteopenia, Respiratory distress, Flexion contracture of finger, Apnea, Recurrent fractures, Camp... ORPHA:3206
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Epistaxis, Carious teeth, Diarrhea, Osteoporosis, Enterocolitis, Gout, Increased susc... ORPHA:79259
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Prominent nose, High, narrow palate, Short philtrum, Widely spaced teeth, Joint ... OMIM:300967
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Kyphoscoliosis, Short foot, Ankle clonus, Hammertoe, Camptodactyly, ... OMIM:275900
Chromosome 1P36 Deletion Syndrome, Proximal
Anteverted nares, Posteriorly rotated ears, Micrognathia, Bifid nasal tip, Cleft lip, Cleft palat... OMIM:619343
Nail-Patella Syndrome
Biceps aplasia, Lumbar hyperlordosis, Glenoid fossa hypoplasia, Spina bifida, Cleft upper lip, Pe... OMIM:161200
Cdags Syndrome
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Senso... OMIM:603116
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Distal ileal atr... OMIM:267000
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F... ORPHA:171430
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... ORPHA:109
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Waddling g... OMIM:614557
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Dental crowding, Convex nasal ridge, Narrow nasal ridge, Joint stiffness, Micrognathi... OMIM:248370
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anteverted nares, Depressed nasal bridge, Feeding difficulties, Macroglossia, Concave nasal ridge... OMIM:613038
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Sensorineural hea... OMIM:220110
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Bulbous nose, Feeding diffi... OMIM:614105
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
5Q14.3 Microdeletion Syndrome
Anteverted nares, Feeding difficulties, Short philtrum, Short nose, Abnormal repetitive mannerism... ORPHA:228384
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor OMIM:300291
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Cerebellar vermis hypoplasia, Micrognathia, Hypoplasia of the pons, High palate, Clinodactyly of ... OMIM:616975
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Mandibuloacral Dysplasia
Dental crowding, Narrow nose, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, Cont... ORPHA:2457
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Anorexia, Abdominal distention, Vertigo, Episodic abdominal pain ORPHA:370348
Liver Disease, Severe Congenital
Chronic gastritis, Micrognathia, Vomiting, Protein-losing enteropathy, Cough, Joint laxity, Depre... OMIM:619991
Malignant Peritoneal Mesothelioma
Abdominal pain, Dyspnea, Abdominal distention, Peritonitis, Ileus ORPHA:168811
Fetal Valproate Spectrum Disorder
Depressed nasal ridge, Downturned corners of mouth, Thin vermilion border, Narrow mouth, Short no... ORPHA:1906
Microcephaly, Short Stature, And Limb Abnormalities
Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patellar aplasia, Simpli... OMIM:617604
Cutis Laxa, Autosomal Dominant 3
Osteopenia, Joint laxity, Hip dislocation, Protruding ear, Feeding difficulties, Low-set ears, Wo... OMIM:616603
Spondyloenchondrodysplasia
Delayed eruption of teeth, Kyphosis, Dental malocclusion, Pectus carinatum, Arthritis, Platyspond... ORPHA:1855
Mandibuloacral Dysplasia With Type B Lipodystrophy
Convex nasal ridge, Micrognathia, Abnormality of the dentition, Large fontanelles, Osteolysis, Os... ORPHA:90154
Nijmegen Breakage Syndrome
Anal stenosis, Sinusitis, Hyperactivity, Choanal atresia, Rhabdomyosarcoma, Malar prominence, Lon... OMIM:251260
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly, Scoliosis, Microcephaly OMIM:615284
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Dermatoosteolysis, Kirghizian Type
Tarsal synostosis, Abnormality of the hand, Osteoarthritis, Dystrophic fingernails, Abnormal diap... ORPHA:1657
Miller-Dieker Syndrome
Abnormal upper lip morphology, Anteverted nares, Ataxia, Short nose ORPHA:531
Chromosome 13Q14 Deletion Syndrome
Thin upper lip vermilion, Micrognathia, Anteverted ears, Bulbous nose, Deep philtrum, Hip disloca... OMIM:613884
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Joint laxity, Waddling gait, Wormian bones, Osteoporosis, Increased susceptibility to... ORPHA:2788
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas... OMIM:613091
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Abdominal distention, Depressed nasal bridge, Anteverted nares OMIM:618528
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... ORPHA:309256
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly ORPHA:2150
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... OMIM:614299
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... OMIM:259410
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Absent nipple, Cubitus valgus, Hy... OMIM:104350
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Hip subluxation, ... OMIM:182250
Rin2 Syndrome
Sparse scalp hair, High palate, Scoliosis, Umbilical hernia, Hirsutism, Brachydactyly ORPHA:217335
Peters Plus Syndrome
Micromelia, Short neck, Micrognathia, Clinodactyly of the 5th finger, Conductive hearing impairme... ORPHA:709
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth OMIM:129550
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Short neck, Synophrys, Cleft palate, Protruding ear, Facial hirsu... ORPHA:247768
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Wilson Disease
Acute hepatic failure, Osteomalacia, Abdominal distention, Osteoarthritis, Osteoporosis, Esophage... OMIM:277900
Waardenburg Syndrome
Intestinal obstruction, Aplasia/Hypoplasia of the colon, Prominent nasal bridge, Aganglionic mega... ORPHA:3440
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Genu valgum, Hypophosphatemic r... OMIM:307800
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Frontofacionasal Dysplasia
Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Absent inner eyelashes, Craniu... OMIM:229400
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Calcinosis, Short metacarpal, Osteopenia, Abnormal trabecular bone mor... ORPHA:221008
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Satoyoshi Syndrome
Short metacarpal, Alopecia, Malabsorption, Short metatarsal, Osteolytic defects of the phalanges ... OMIM:600705
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Atresia of the external auditory canal OMIM:209770
Progressive Osseous Heteroplasia
Osteoarthritis, Brachydactyly ORPHA:2762
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Allergic rhinitis, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, K... OMIM:618162
Lowry-Wood Syndrome
Prominent nose, Microcephaly, Squared iliac bones, Limited elbow extension, Hip dislocation, Elbo... OMIM:226960
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Asthma, Recurrent pneumonia, Concave nasal ridge, High pala... OMIM:170100
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Laryngeal stenosis, Sensorineural hearing impairment, Optic at... ORPHA:324540
Lowry-Wood Syndrome
Epiphyseal dysplasia, Abnormality of nail color, Microcephaly, Elbow dislocation, Coxa vara, Apla... ORPHA:1824
Isolated Atp Synthase Deficiency
Respiratory distress, Lethargy, Sensorineural hearing impairment, Ataxia ORPHA:254913
Wolman Disease
Nausea and vomiting, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea, Hepatic f... ORPHA:75233
Parietal Foramina 1
Wormian bones, Encephalocele, Cleft palate, Cleft upper lip OMIM:168500
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Clubbing o... ORPHA:1318
Al Amyloidosis
Gastrointestinal hemorrhage, Gastroparesis, Abdominal distention, Nonproductive cough, Dyspnea, X... ORPHA:85443
Cherubism
Jaw swelling, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Ol... OMIM:118400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Larsen Syndrome
Cervical kyphosis, Short metatarsal, Knee dislocation, Conductive hearing impairment, Spina bifid... OMIM:150250
Filippi Syndrome
Enlarged epiphyses, Wide nose, Finger syndactyly, Prominent nasal bridge, Supernumerary nipple, U... ORPHA:3255
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Coxa valga, Microcephaly, Hypoplastic vertebral bodies, Holoprosencephaly, Clin... ORPHA:2163
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... ORPHA:85167
Isolated Exencephaly
Depressed nasal bridge, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Apl... ORPHA:563612
Kindler Epidermolysis Bullosa
Laryngeal stenosis, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodac... ORPHA:2908
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Death in childhood, D... OMIM:619127
Necrotizing Enterocolitis
Apnea, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy ORPHA:391673
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Mosaic Trisomy 16
Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Abnormality of the nose, La... ORPHA:1708
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Anorexia, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Joubert Syndrome 1
Optic disc pallor, Hyperactivity, Anteverted nares, Protruding tongue, Aggressive behavior, Optic... OMIM:213300
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hearing impairment, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Abnormal fe... ORPHA:3218
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
X-Linked Intellectual Disability, Cantagrel Type
Tented upper lip vermilion, Gastroesophageal reflux, Short philtrum, Short nose, Abnormal repetit... ORPHA:85277
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Anteverted nares, Oral-pharyngeal dysphagia, Osteoporosis, Dy... OMIM:615273
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Short ear, Micrognathia, Protruding ear, Downturned corners of mouth, High palate, Short palm, Ab... OMIM:614756
Semilobar Holoprosencephaly
Flexion contracture, Depressed nasal ridge, Single naris, Gastroesophageal reflux, Vomiting, High... ORPHA:220386
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Inability to w... OMIM:614207
Alobar Holoprosencephaly
Flexion contracture, Depressed nasal ridge, Single naris, Gastroesophageal reflux, Vomiting, High... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Flexion contracture, Depressed nasal ridge, Single naris, Gastroesophageal reflux, Vomiting, High... ORPHA:93926
Lobar Holoprosencephaly
Flexion contracture, Depressed nasal ridge, Single naris, Gastroesophageal reflux, Vomiting, High... ORPHA:93924
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Syndactyly, Depressed nasal bridge, Microtia, Camptodactyly, Intestinal lymphangiectasia, Hearing... OMIM:616006
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly, Sparse scalp hair, Aganglionic megacolon, Microcephaly, Sparse eyebrow, Macrot... ORPHA:66629
Congenital Disorder Of Glycosylation, Type Iiw
Wide nose, Micrognathia, Pectus excavatum, Underdeveloped nasal alae, Supernumerary tooth, Osteop... OMIM:619525
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Absent septum pellucidum, Ileal atresia, ... OMIM:618820
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Sparse scalp hair, Anal stenosis, Depressed nasal bridge, Optic nerve hypoplasia, Micrognathia, 2... OMIM:620029
Non-Distal Deletion 10Q
Brachydactyly, Synophrys, Wide nasal bridge, Clinodactyly of the 5th finger, Overlapping fingers,... ORPHA:1581
Grant Syndrome
Wormian bones, Micrognathia OMIM:138930
Microcephaly 26, Primary, Autosomal Dominant
Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge, Gingival overg... OMIM:619179
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Wide nose, Inability to walk, Flexion contracture, Recurrent pneumonia, Wid... OMIM:617303
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Tooth abscess ORPHA:89937
21Q22.11Q22.12 Microdeletion Syndrome
Short proximal phalanx of the 5th finger, Anteverted nares, Microcephaly, Short proximal phalanx ... ORPHA:261323
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ... OMIM:309580
Phosphoribosylpyrophosphate Synthetase Superactivity
Ataxia, Depressed nasal bridge, Sensorineural hearing impairment, Gout, Wide mouth, High palate, ... OMIM:300661
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Periventricular Nodular Heterotopia 1
Syndactyly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Short finger, Clinodactyly,... OMIM:300049
Sifrim-Hitz-Weiss Syndrome
Cupped ear, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Gait imbalanc... OMIM:617159
Neonatal Marfan Syndrome
Micrognathia, High, narrow palate, Flexion contracture, Wide nasal bridge, Pectus carinatum, Enla... ORPHA:284979
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Low-set ears, Clinodactyly ... OMIM:601163
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Death in infancy, Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia,... OMIM:243150
Macrocephaly/Autism Syndrome
Joint laxity, Depressed nasal bridge, High palate, Long philtrum, Recurrent otitis media, Short nose OMIM:605309
Acute Intermittent Porphyria
Nausea and vomiting, Restlessness, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Respira... ORPHA:79276
Pseudopseudohypoparathyroidism
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... ORPHA:79445
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly, Hand oligodactyly OMIM:207770
Brain-Lung-Thyroid Syndrome
Respiratory distress, Hyperactivity, Neonatal respiratory distress, Ataxia, Abnormal eating behav... ORPHA:209905
Bardet-Biedl Syndrome 9
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... OMIM:615986
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Joint laxity, Central apnea, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion ... ORPHA:522077
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Abnormal pelvis bone ... ORPHA:166119
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Laryngotracheal stenosis, Tracheoesophageal fistula, Dysphagia, Up... ORPHA:142
Scalp-Ear-Nipple Syndrome
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, C... OMIM:181270
Microphthalmia, Syndromic 1
Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, High palate, Narrow chest... OMIM:309800
Hsd10 Disease
Abnormal social behavior ORPHA:391417
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Dental crowding, Protrusio acetabuli, ... ORPHA:558
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly OMIM:615633
Cadds
Sensorineural hearing impairment, Short nose, Micrognathia ORPHA:369942
Acquired Methemoglobinemia
Respiratory distress, Abdominal pain, Dyspnea, Vertigo, Hypoxemia, Vomiting ORPHA:464453
Yunis-Varon Syndrome
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Anterior concav... OMIM:216340
Prader-Willi Syndrome
Narrow nasal bridge, Syndactyly, Hypopigmentation of hair, Carious teeth, Kyphosis, Acromicria, S... OMIM:176270
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs, Micrognathia OMIM:614857
Williams Syndrome
Osteopenia, Micrognathia, Rectal prolapse, Dysmetria, Protruding ear, Abnormal form of the verteb... ORPHA:904
Thyroid Hypoplasia
Macroglossia, Abdominal distention, Large fontanelles, Constipation ORPHA:95720
Farber Disease
Respiratory distress, Abnormality of the knee, Flexion contracture, Osteoporosis, Chronic diarrhe... ORPHA:333
Teebi-Shaltout Syndrome
Single transverse palmar crease, High, narrow palate, Low anterior hairline, Sparse hair, Small e... OMIM:272950
Infantile Krabbe Disease
Respiratory distress, Prolonged brainstem auditory evoked potentials, Nasogastric tube feeding in... ORPHA:206436
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Exaggerated cupid's bow, Posteriorly rotated ears, Spina bifida, Broad nasal tip, Cu... OMIM:619480
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Protruding ear, Hypodontia, Submucous cleft soft pala... ORPHA:69085
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Posteriorly rotated ears, Prominent nose, Micrognathia, Bulbous nose, Narrow p... OMIM:619268
Proteus Syndrome
Decreased muscle mass, Abnormal form of the vertebral bodies, Abnormality of the wrist, Thick nas... ORPHA:744
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Abdominal pain, Abdominal distention, Peritonitis, Pleural ef... ORPHA:314473
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Respiratory distress, Broad-based gait, Ataxia, Reye syndrome-like episode... OMIM:256810
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:1354
Noonan Syndrome 1
Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate, Woolly hair, Hearing impairment, D... OMIM:163950
Digeorge Syndrome
Micrognathia, High, narrow palate, Cleft palate, High palate, Short philtrum, Recurrent sinusitis... OMIM:188400
Alg8-Cdg
Leukoencephalopathy, Macroglossia, Talipes equinovarus, Hypoplasia of the corpus callosum, Campto... ORPHA:79325
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmentation ... OMIM:312870
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Dyspnea, Episodic abdominal pain, Bronchospasm, Nausea ORPHA:100085
Dihydropyrimidinase Deficiency
Abnormal cerebral white matter morphology, Short phalanx of finger, Talipes equinovarus, Anal atr... OMIM:222748
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Hypoplasia of delto... OMIM:173800
Developmental And Epileptic Encephalopathy 75
Anteverted nares, Feeding difficulties in infancy, Wide nasal bridge, Short philtrum, Decreased l... OMIM:618437
Nephrotic Syndrome, Type 1
Abdominal distention, Neonatal respiratory distress, Gastroesophageal reflux, Pyloric stenosis OMIM:256300
Multiple Epiphyseal Dysplasia Type 5
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... ORPHA:93311
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Irregular ve... OMIM:271640
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Type E brachydactyly, Short 4th metacarpal OMIM:113301
Chitayat Syndrome
Respiratory distress, Depressed nasal bridge, Anteverted nares, Short columella, Thick vermilion ... OMIM:617180
Wildervanck Syndrome
Facial palsy, Congenital sensorineural hearing impairment, Meningocele, Fused cervical vertebrae,... ORPHA:3456
Bardet-Biedl Syndrome 17
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... OMIM:615994
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Oral mucosal blisters, Abdominal distention, Congenital pyloric atresia, Pte... ORPHA:79403
Epidermolysis Bullosa Simplex With Pyloric Atresia
Oral mucosal blisters, Abdominal distention, Flexion contracture, Congenital pyloric atresia, Mic... ORPHA:158684
Liver Failure, Infantile, Transient
Acute hepatic failure, Death in infancy, Feeding difficulties in infancy, Abdominal distention, V... OMIM:613070
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Abdominal pain, Productive cough, Nonproductive cou... ORPHA:454836
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Respiratory distress, Congenital hip dislocation, Multiple prenatal fractures, Flexio... OMIM:271225
Thanatophoric Dysplasia, Type I
Neonatal respiratory distress, Hydrocephalus, Platyspondyly, Protuberant abdomen, Neonatal death,... OMIM:187600
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Abnormal dental enamel morphology, Hearing impairment, Micrognat... ORPHA:2556
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Meningocele, Camptodactyly of finger, Duodenal stenosis ORPHA:1759
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Abnormal rib morphology, Nasal congestion, Abnormal esoph... ORPHA:1163
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Feeding difficulties, Stridor, Vo... ORPHA:137935
Peripheral Dysostosis
Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand OMIM:170700
Kabuki Syndrome 1
Joint dislocation, Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Abnorma... OMIM:147920
Loeys-Dietz Syndrome 2
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Eosinophili... OMIM:610168
Myoclonic-Astatic Epilepsy
Syndactyly, Anteverted nares, Frontal balding, Microcephaly, Wide nasal bridge, Thick nasal alae ORPHA:1942
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux, Highly arched eyebrow, Mi... OMIM:600987
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Neurocardiofaciodigital Syndrome
Syndactyly, Cerebellar vermis hypoplasia, Microcephaly, Sparse eyebrow, Polydactyly, High palate,... OMIM:619869
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Mixed hearing impairment, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Lo... OMIM:608624
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Unsteady gait, ... OMIM:618733
Aneurysm-Osteoarthritis Syndrome
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Os... ORPHA:284984
Incontinentia Pigmenti
Delayed eruption of teeth, Eosinophilia, Kyphoscoliosis, Conical tooth, Optic atrophy, Hemiverteb... OMIM:308300
Frontofacionasal Dysplasia
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Non-midline cleft lip, D... ORPHA:1791
Tetraamelia Syndrome 1
Choanal atresia, Congenital diaphragmatic hernia, Cleft upper lip, Micrognathia, Hydrocephalus, S... OMIM:273395
Tooth Agenesis, Selective, 4
Peg-shaped maxillary lateral incisors, Tooth agenesis, Abnormality of primary teeth, Agenesis of ... OMIM:150400
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Split hand, Clubbing, Cleft palate, Low-set ears, Death in childhood, Hypoplastic helices, Macrotia OMIM:600460
Mucopolysaccharidosis, Type Iiia
Hyperactivity, Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovo... OMIM:252900
Succinic Acidemia
Respiratory distress OMIM:600335
Ring Chromosome 12 Syndrome
Syndactyly, Lumbar hyperlordosis, Microcephaly, High, narrow palate, Abnormal 5th finger morpholo... ORPHA:1439
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Posteriorly rotated ears, Micrognathia, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Ad... OMIM:620189
Intellectual Developmental Disorder, Autosomal Dominant 57
Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, Microcephaly... OMIM:618050
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... ORPHA:3353
Noonan Syndrome 3
Hypoplastic nasal bridge, Posteriorly rotated ears, Thickened helices, Sagittal craniosynostosis,... OMIM:609942
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Lethargy, Choreoathetosis, Respiratory distress ORPHA:289916
Gracile Bone Dysplasia
Death in infancy, Hydrocephalus, Flared metaphysis, Slender long bone, Ankyloglossia, Brachydactyly OMIM:602361
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Progressive gait ataxia, Bilateral sensorineural hearing impairment ORPHA:309263
Chand Syndrome
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... ORPHA:1401
Metachromatic Leukodystrophy, Adult Form
Bowel incontinence, Abdominal distention, Progressive gait ataxia, Bilateral sensorineural hearin... ORPHA:309271
Fanconi-Bickel Syndrome
Osteopenia, Abdominal distention, Hepatic failure, Rickets ORPHA:2088
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Thickened ribs, Aggressive behavior, Joint stiffness, Recurrent upper respiratory ... OMIM:252920
Methylcobalamin Deficiency Type Cble
Syndactyly, Microcephaly, Hydrocephalus, Abnormal cerebral white matter morphology, Hypoplasia of... ORPHA:2169
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Finger syndactyly, Toe syndactyly, Depressed nasal bridge, Hydrocephalus, Hand polydactyly, Foot ... ORPHA:60040
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Multiple prenatal fractures, Absent ossification of calvaria, Large fontanel... OMIM:166210
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Listeriosis
Respiratory distress, Stiff neck, Osteomyelitis, Ataxia, Miscarriage, Abdominal pain, Pneumonia, ... ORPHA:533
Pachyonychia Congenita 2
Oral leukoplakia, Natal tooth, Angular cheilitis OMIM:167210
Mandibuloacral Dysplasia With Type A Lipodystrophy
Abnormality of the dentition, Flexion contracture, Limitation of joint mobility, Osteolysis, Larg... ORPHA:90153
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Prominent nose, Macrotia, Flexion contracture, Elbow flexion contracture... OMIM:256040
Larsen-Like Syndrome, Lethal Type
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien... OMIM:245650
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Respiratory distress, Ataxia, Anorexia, Tachypnea, Lethargy ORPHA:79242
Absent Eyebrows And Eyelashes With Mental Retardation
Encephalocele, Short nose, Convex nasal ridge OMIM:200130
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Depressed nasal bridge, Attention deficit hyperactivity disorder, Lymphoid ... ORPHA:210548
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo... ORPHA:2771
Kleefstra Syndrome Due To 9Q34 Microdeletion
Anteverted nares, Protruding tongue, Feeding difficulties, Downturned corners of mouth, Macroglos... ORPHA:96147
Carnitine Deficiency, Systemic Primary
Respiratory distress, Lethargy, Diarrhea, Vomiting OMIM:212140
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Absent eyelashes, Cleft palate... ORPHA:2890
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Abdominal distention, Ileus, Abdominal pain ORPHA:83469
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Hirschsprung Disease With Type D Brachydactyly
Short thumb, Aganglionic megacolon, Type D brachydactyly OMIM:306980
Pontocerebellar Hypoplasia, Type 10
Thin upper lip vermilion, Kyphoscoliosis, Underdeveloped nasal alae, Bulbous nose, Wide nasal bri... OMIM:615803
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw ORPHA:199276
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... OMIM:180500
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Castleman Disease
Myelofibrosis, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abdominal distention,... ORPHA:160
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Abdominal pain, Hematemesis, Celiac disease, Vertigo, ... OMIM:301068
Down Syndrome
Thickened nuchal skin fold, Short palm, Redundant neck skin, Sandal gap, Single transverse palmar... OMIM:190685
Neurooculorenal Syndrome
Subglottic stenosis, Mixed hearing impairment, Intestinal malrotation, Short hallux, Micrognathia... OMIM:620305
17Q12 Microduplication Syndrome
Finger syndactyly, Toe syndactyly, Synophrys, Cortical dysplasia, Tracheoesophageal fistula, Clef... ORPHA:261272
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior, Sensorineural hearing impairment, Flexion contr... ORPHA:17
Spondylometaphyseal Dysplasia, Pagnamenta Type
Feeding difficulties, Platyspondyly, Thoracic kyphosis, Wormian bones, Thin bony cortex OMIM:619638
Peritoneal Cystic Mesothelioma
Abdominal distention, Peritonitis, Constipation, Abdominal pain ORPHA:168816
Microform Holoprosencephaly
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... ORPHA:280200
Rodrigues Blindness
Narrow nasal bridge, Nasal flaring, Tooth malposition, Protruding ear OMIM:268320
Microtia
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence... ORPHA:83463
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Dyspnea, Peritonitis, Hydrocephalus, Osteolysis, ... ORPHA:1546
Weill-Marchesani Syndrome
Short thumb, Brachydactyly ORPHA:3449
Septopreoptic Holoprosencephaly
Impulsivity, Abnormal rib morphology, Anteriorly placed anus, Dysphagia, Abnormal vertebral morph... ORPHA:280195
Williams-Beuren Syndrome
Osteopenia, Feeding difficulties in infancy, Rectal prolapse, Flexion contracture, Gastroesophage... OMIM:194050
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Craniosynostosis, Oral mucosal blisters, Smooth tongue, Enamel hypo... ORPHA:79396
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebr... ORPHA:168549
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Anteverted nares, Intes... ORPHA:2729
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Posteriorly rotated ears, Anteverted nares, Broad nasal tip, Carious teeth, Long nose, Bulbous no... OMIM:619522
Proboscis Lateralis
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Proboscis, Optic nerve hypoplasia, Abnormal p... ORPHA:141099
Primary Dystonia, Dyt4 Type
Respiratory distress, Kyphoscoliosis, Dysdiadochokinesis, Gait disturbance, Dysphagia, Movement a... ORPHA:98805
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, W... OMIM:619698
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Diarrhea, Chronic pulmonary obstruction, Pneumothorax, B... ORPHA:411703
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Wide nose, Depressed nasal bridge, Micrognathia, Cleft upper lip, Abdominal distention, Abnormal ... ORPHA:93271
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Abnormal pinna morphology, Craniosynostosis, Hypoplasia of the small intestine... OMIM:200995
Diaphragmatic Hernia 4, With Cardiovascular Defects
11 pairs of ribs, Optic nerve hypoplasia, Micrognathia, Bulbous nose, Coronal cleft vertebrae, Ap... OMIM:620025
Otosclerosis 10
Otosclerosis OMIM:615589
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ... ORPHA:1876
Norrie Disease
Narrow nasal bridge, Sensorineural hearing impairment, Optic atrophy, Protruding ear, Abnormal co... ORPHA:649
Sotos Syndrome
No permanent dentition, Flexion contracture, Conductive hearing impairment, Chronic otitis media,... ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Fanconi-Bickel Syndrome
Osteomalacia, Poor appetite, Malabsorption, Abdominal distention, Rickets OMIM:227810
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Hearing impairment ORPHA:2578
1P36 Deletion Syndrome
Depressed nasal ridge, Conductive hearing impairment, Abnormal repetitive mannerisms, Abnormality... ORPHA:1606
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morpho... ORPHA:100050
Ovarian Fibrothecoma
Abdominal distention, Peritonitis, Pleural effusion, Abdominal pain ORPHA:314478
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Lumbar hyperlordosis, Joint stiffness, Inability to walk, Hydrocephalus, Fl... ORPHA:505248
Hypophosphatasia
Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Abnormal rib morphology, Nar... ORPHA:436
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Enamel hypoplasia, Hypodontia, Oligodontia OMIM:607626
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Smooth philtrum, Feeding difficulties, Anteriorly placed anus, High palate, Low-set ears, Difficu... OMIM:618653
Geleophysic Dysplasia 3
Subglottic stenosis, Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbo... OMIM:617809
Congenital Disorder Of Glycosylation, Type Iim
Mandibular prognathia, Exaggerated cupid's bow, Wide nasal bridge, Fused teeth, High palate, Shor... OMIM:300896
Familial Nasal Acilia
Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Limitation of... ORPHA:2719
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Abdominal pain, Diarrhea, Peritonitis,... ORPHA:36234
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Broad-based gait, Feeding difficulties in infancy, Submucous cleft hard palate, Flexion contractu... OMIM:618891
Geleophysic Dysplasia 1
Osteopenia, Anteverted nares, Camptodactyly of finger, Joint stiffness, Wide mouth, Long philtrum... OMIM:231050
Occipital Horn Syndrome
Cerebral calcification, High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Short palm, L... ORPHA:198
Idiopathic Neonatal Atrial Flutter
Feeding difficulties in infancy, Tachypnea, Respiratory distress ORPHA:45452
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Polysyndactyly With Cardiac Malformation
Syndactyly, Anteverted nares, Preaxial hand polydactyly, Duplication of phalanx of hallux, Stillb... OMIM:263630
Adams-Oliver Syndrome 6
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly OMIM:616589
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... OMIM:142900
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Gastroesophageal reflux, Cough, Pulmonary ar... ORPHA:2414
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Death in infancy, Anteverted nares, Aganglionic megacolon, Microcephaly, Sensorineural hearing im... ORPHA:847
Odontomicronychial Dysplasia
Premature eruption of permanent teeth OMIM:601319
Lymphedema-Hypoparathyroidism Syndrome
Hypertrichosis, Wide nasal bridge, Increased carrying angle, Brachydactyly OMIM:247410
Nivelon-Nivelon-Mabille Syndrome
Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Microcephaly, Trapezoidal vertebral b... OMIM:600092
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Medulloblastoma
Nausea and vomiting, Ataxia, Delayed cranial suture closure, Vertigo, Adenomatous colonic polypos... ORPHA:616
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Hydrocephalus, Feeding difficulties, Pulmonary ... ORPHA:79282
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Persistence of primary teeth, Carious teeth, Cortical thickening of long bone diaphy... ORPHA:93325
Hypocalcemic Vitamin D-Resistant Rickets
Joint dislocation, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, R... ORPHA:93160
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Short nose, Stereotypical hand wringing ORPHA:289266
Hereditary Spherocytosis
Abdominal distention, Ataxia, Gout, Abdominal pain ORPHA:822
Japanese Encephalitis
Respiratory distress, Stiff neck, Genu recurvatum, Anorexia, Abdominal pain, Diarrhea, Elbow flex... ORPHA:79139
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe, Protruding ear OMIM:181510
Isolated Thyroid-Stimulating Hormone Deficiency
Large posterior fontanelle, Depressed nasal bridge, Feeding difficulties in infancy, Delayed prox... ORPHA:90674
Warburg Micro Syndrome 2
Prominent nasal bridge, Asymmetry of the ears, Flexion contracture, Short nose, Macrotia OMIM:614225
Gonadoblastoma
Abdominal distention, Abdominal pain ORPHA:206484
Weill-Marchesani Syndrome 3
Brachydactyly OMIM:614819
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Tachypnea, Respiratory failur... OMIM:263000
Curry-Jones Syndrome
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Craniosy... ORPHA:1553
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly, Depressed nasal bridge, High palate, Umbilical hernia, Polymicrogyria OMIM:614520
Craniosynostosis 4
Depressed nasal bridge, Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Me... OMIM:600775
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anteverted nares, Depressed nasal bridge, Aqueductal stenosis, Abdominal distention, ... OMIM:619534
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... OMIM:612852
Meester-Loeys Syndrome
Joint dislocation, Arachnodactyly, Hypertrichosis, High palate, Broad distal phalanx of finger, C... OMIM:300989
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Feeding difficulties in... ORPHA:308552
Camptobrachydactyly
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... ORPHA:1319
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Wide nose, Craniosynostosis, Broad nasal tip, Sparse eyebrow, Supernumerary nipple, A... ORPHA:1521
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Short metacarpal, Toe syndactyly, Microtia, third degree, Abnormal nasal morpholo... OMIM:200110
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Depressed nasal bridge, Micrognathia, Optic atrophy, Wide nasal bridge, ... ORPHA:284339
Inflammatory Pseudotumor Of The Liver
Abdominal distention, Vomiting, Nausea, Abdominal pain ORPHA:90003
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Laryngeal stenosis, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa... ORPHA:79404
Cinca Syndrome
Joint dislocation, Brachydactyly, Delayed closure of the anterior fontanelle, Abnormal joint morp... ORPHA:1451
Myotonic Dystrophy 1
Feeding difficulties in infancy, Obsessive-compulsive trait, Respiratory distress, Dysphagia OMIM:160900
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption ORPHA:71
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo... ORPHA:93351
Laurin-Sandrow Syndrome
Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... OMIM:135750
Dahlberg-Borer-Newcomer Syndrome
Brachydactyly, Wide nasal bridge, Generalized hirsutism, Short distal phalanx of finger ORPHA:1563
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, Submucous cleft hard palate, Bifid uvula, Feeding difficulties OMIM:619239
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Colitis, Ste... ORPHA:309031
Atypical Werner Syndrome
Abnormality of the Achilles tendon, Skeletal muscle atrophy, Sclerosis of hand bone, Increased bo... ORPHA:79474
Pili Torti, Early-Onset
Enamel hypoplasia OMIM:261900
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Esophageal varix, Pulmonary arterial hypertension, Let... OMIM:215600
Cholesteryl Ester Storage Disease
Acute hepatic failure, Death in infancy, Diarrhea, Esophageal varix, Vomiting, Protuberant abdome... OMIM:278000
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia... ORPHA:319213
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... OMIM:241520
Rhyns Syndrome
Radial bowing, Sensorineural hearing impairment, Short long bone, Short femoral neck, Conductive ... OMIM:602152
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Death in adolescence, Death in childhood, Hearing impairment OMIM:560000
Hypothyroidism, Congenital, Nongoitrous, 2
Large posterior fontanelle, Feeding difficulties in infancy, Abdominal distention, Stridor, Macro... OMIM:218700
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al... ORPHA:178320
Menkes Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Osteomyelitis, Tarsal synostosis, Recurrent fra... ORPHA:565
Caudal Duplication
Spina bifida, Myelomeningocele, Bifid sacrum, Vertebral segmentation defect, Intestinal duplication ORPHA:1756
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Intestinal malrotation, Diastasis recti, Micrognathia, Esophageal atresia, C... OMIM:265380
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress, Feeding difficulties OMIM:615597
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia OMIM:245590
Primary Biliary Cholangitis
Celiac disease, Abdominal distention, Osteoporosis, Gastrointestinal inflammation, Hepatic failure ORPHA:186
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Joint laxity, Laryngeal stenosis, Kyphoscoliosis, Hip subluxation, Aplasia/hypoplasia of the extr... ORPHA:93360
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Narrow nasal ridge, Narrow mouth, Diarrhea, Large fontanelles, Dysmetri... OMIM:606721
Hunter-Macdonald Syndrome
Thin upper lip vermilion, Cubitus valgus, Sensorineural hearing impairment, Premature osteoarthri... OMIM:611962
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Sensorin... OMIM:619351
Omodysplasia 1
Depressed nasal bridge, Micrognathia, Limited knee flexion, Limited hip movement, Limited knee fl... OMIM:258315
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Short neck, Microcepha... ORPHA:168577
Biotinidase Deficiency
Respiratory distress, Ataxia, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairme... ORPHA:79241
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome
Short distal phalanx of finger, Brachytelomesophalangy ORPHA:1547
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Delayed eruption of primary teeth, Aggressive behavior, Widely spaced teeth, Bru... OMIM:617799
Pgm3-Cdg
Lactose intolerance, Mild neurosensory hearing impairment, Allergic rhinitis, Sensorineural heari... ORPHA:443811
Proteasome-Associated Autoinflammatory Syndrome 2
Clinodactyly, Brachydactyly OMIM:618048
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... OMIM:609220
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Finger syndactyly, Low-set, posteriorly rotated ears, Prominent na... ORPHA:110
Craniotubular Dysplasia, Ikegawa Type
Short palm, Anteverted nares, Optic neuropathy, Thick lower lip vermilion, Optic atrophy, Wide na... OMIM:619727
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Thin upper lip vermilion, Severe generalized osteoporosis, Micrognathia, Kyphosc... OMIM:210730
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Letterer-Siwe Disease
Stomatitis, Abdominal distention, Dyspnea OMIM:246400
Familial Adenomatous Polyposis 1
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... OMIM:175100
Mercury Poisoning
Respiratory distress, Anorexia, Dyspnea, Episodic abdominal pain, Respiratory failure, Interstiti... ORPHA:330021
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Joint stiffness, Kyphosis, Depressed nasal ridge, Gingival over... OMIM:230500
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Plague
Respiratory distress, Chapped lip, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Unsteady gait... ORPHA:707
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Leprechaunism
Wide nose, Abdominal distention, Rectal prolapse, Protruding ear, Megarectum, Thick vermilion bor... ORPHA:508
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, ... OMIM:615503
Joubert Syndrome 33
Syndactyly OMIM:617767
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Scoliosis, Brachydactyly OMIM:613819
Adams-Oliver Syndrome 5
Syndactyly, Esophageal varix, Umbilical hernia, Dystrophic toenail, Brachydactyly OMIM:616028
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... ORPHA:275761
Amelogenesis Imperfecta, Type Ig
Dagger-shaped pulp calcifications, Gingival overgrowth, Gingival fibromatosis, Delayed eruption o... OMIM:204690
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... ORPHA:371428
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Arthropathy, Limitation of joint mobility, Osteoporosis, Large fontanelles, Osteolyti... OMIM:259100
Popliteal Pterygium Syndrome
Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous finger syndactyly, Talipes equin... OMIM:119500
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting ORPHA:35710
Menkes Disease
Joint laxity, Wormian bones, Osteoporosis, Death in childhood OMIM:309400
Shwachman-Diamond Syndrome 2
Subglottic stenosis, Death in infancy, Anterior rib cupping, Death in childhood, High palate, Low... OMIM:617941
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Cleft soft palate, Intestinal malrotation, Optic nerve hypoplasia, Hydrocephalus, Flexion contrac... OMIM:619321
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Erosion of oral mucosa, Esophageal ulceration, Anal fissure, Foot joint contracture, ... ORPHA:79408
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly, Glue ear, Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin ey... ORPHA:1433
X-Linked Acrogigantism
Diastema, Abdominal distention, Ataxia, Polyphagia ORPHA:300373
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... ORPHA:264675
Holoprosencephaly 4
Median cleft lip, Depressed nasal bridge, Median cleft lip and palate, Absent nasal septal cartil... OMIM:142946
Bardet-Biedl Syndrome 1
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, Hearing impairment, High, narrow palate... OMIM:209900
Muscle-Eye-Brain Disease
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Infantile Systemic Hyalinosis
Short palm, Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsor... ORPHA:2176
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency, Decreased... ORPHA:367
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Polyembryoma
Abdominal distention, Abdominal pain ORPHA:180229
Hereditary Fructose Intolerance
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... ORPHA:469
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Prominent nose, Abnormal carpal morphology, Madelung deformity, Microtia, Lu... ORPHA:319675
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Poor suck, Nasal congestion, Stridor, Par... ORPHA:141083
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Sensorineural hearing i... OMIM:605432
Hypermobile Ehlers-Danlos Syndrome
Joint dislocation, Apnea, Osteoarthritis, Gastrointestinal dysmotility, Abnormality of the gingiv... ORPHA:285
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s... OMIM:208500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Adult-Onset Still Disease
Abdominal pain, Cartilage destruction, Recurrent pharyngitis, Arthritis, Joint swelling, Restrict... ORPHA:829
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Osteomalacia, Aggressive behavior, Wrist swelling, Kyphosis, Rickets, Hi... OMIM:309000
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Eosinophilia, Pneumonia, Peritonitis, Hydrocephalus, Osteoly... ORPHA:228123
Toriello-Lacassie-Droste Syndrome
Aganglionic megacolon, Anteverted nares, Absent septum pellucidum, Hearing impairment, Abnormalit... ORPHA:3339
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Large posterior fontanelle, Depressed nasal bridge, Feeding difficulties in infancy, Delayed prox... ORPHA:226307
Alkaptonuria
Joint dislocation, Joint stiffness, Cartilage destruction, Hearing abnormality, Osteoarthritis, A... ORPHA:56
X Small Rings
Toe syndactyly, Anteverted nares, Short neck, Tapered finger, 2-3 toe syndactyly, Upper limb unde... ORPHA:96201
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Pneumonia, Tachypnea, Feeding difficulties, Anteriorly ... ORPHA:26793
Gardner Syndrome
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:79665
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Abdominal distention, Hemivertebrae, Supernumerary vertebrae, ... OMIM:271520
Ulna Hypoplasia-Intellectual Disability Syndrome
Elbow dislocation, Large fontanelles, Delayed cranial suture closure, Joint stiffness ORPHA:2249
Thyroid Ectopia
Abdominal distention, Large fontanelles, Macroglossia, Constipation, Umbilical hernia ORPHA:95712
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Cerebral cortical atrophy, Congenital bilateral hip dislocation ORPHA:404451
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Reye syndrome-like episo... ORPHA:348
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
Multiple Endocrine Neoplasia Type 2
Joint laxity, Aganglionic megacolon, Kyphoscoliosis, Hyperlordosis, Abdominal distention, Diarrhe... ORPHA:653
Neurocutaneous Melanocytosis
Death in infancy, Meningocele, Aplasia/Hypoplasia of the cerebellum, Generalized hirsutism, Dandy... ORPHA:2481
Loeys-Dietz Syndrome 3
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... OMIM:613795
Stt3B-Cdg
Respiratory distress, Feeding difficulties ORPHA:370924
Townes-Brocks Syndrome 1
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndacty... OMIM:107480
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum OMIM:207950
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Brachydactyly OMIM:603233
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Cerebellar vermis hypoplasia, Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydact... OMIM:263520
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Recurrent fractures, Enlargement of the costochondral junction, Delaye... OMIM:600081
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Anteverted nares, Narrow nasal tip, Supernumerary nipple, Tapered finger, Spar... ORPHA:477993
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Multiple Osteochondromas
Abnormality of the knee, Intestinal obstruction, Limitation of joint mobility, Abnormal cartilage... ORPHA:321
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Recurrent fractures, Enlargement of the costochondral junction, Delaye... OMIM:241530
Mietens Syndrome
Wide nose, Joint stiffness, Elbow dislocation, Hip dislocation, Wide nasal bridge, Short nose, El... ORPHA:2557
9q subtelomeric deletion syndrome
Short nose, Anteverted nares, Protruding tongue DECIPHER:52
Diamond-Blackfan Anemia 8
Short nose, Thick upper lip vermilion, Wide nasal bridge OMIM:612563
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, High palate OMIM:619272
Knobloch Syndrome 2
Encephalocele, Pyloric stenosis, Enamel hypoplasia, Micrognathia OMIM:618458
Camptobrachydactyly
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Pmm2-Cdg
Osteopenia, Mandibular prognathia, Respiratory distress, Multiple joint contractures, Prominent n... ORPHA:79318
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Microcephaly, Sensorineural hearing impairment, P... ORPHA:139471
You-Hoover-Fong Syndrome
Kyphoscoliosis, Microcephaly, Hearing impairment, Cleft palate, Clinodactyly, Brachydactyly OMIM:616954
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip ORPHA:100057
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Blepharocheilodontic Syndrome 2
Distichiasis, Cutaneous syndactyly OMIM:617681
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... OMIM:246570
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis... ORPHA:95430
Gitelman Syndrome
Nausea and vomiting, Respiratory distress, Salt craving, Abdominal pain, Diarrhea, Vertigo, Gout,... ORPHA:358
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy, Vomiting OMIM:251000
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Abdominal distention, Pleural effusion, Nausea ORPHA:64739
Adams-Oliver Syndrome 1
Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Microcephaly, Cortical dysplasia, ... OMIM:100300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Abdominal distention, Lethargy, Hepatic failure OMIM:617156
Lymphatic Malformation 7
Respiratory distress, Abdominal distention, Pleural effusion, Chylothorax OMIM:617300
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth OMIM:300952
Prune Belly Syndrome
Congenital hip dislocation, Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Ap... ORPHA:2970
Vater/Vacterl Association
Occipital encephalocele, Abnormal nasopharynx morphology, Syndactyly, Laryngeal stenosis, Choanal... OMIM:192350
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Bilateral sensorineural hearing impairment OMIM:602722
Cutis Marmorata Telangiectatica Congenita
Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the upper limb, Scoliosis, Short ... ORPHA:1556
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Vomiting, Nausea ORPHA:521219
Occipital Horn Syndrome
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi... OMIM:304150
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Micromelia, Microcephaly, Abnormal shoulder morphology, Abnor... ORPHA:1422
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scolios... ORPHA:64755
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... OMIM:609813
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Gait ata... ORPHA:255210
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Short nose, Long philtrum ORPHA:50810
Familial Adenomatous Polyposis
Duodenal polyposis, Abnormality of the dentition, Supernumerary tooth, Adenomatous colonic polypo... ORPHA:733
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Feeding difficulties, Stridor, Gastroesophageal reflux, Poor suck OMIM:615595
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Osteomyelitis, Gastritis, Pneumonia, Malabsorption, Ileus, Secretory diarrh... ORPHA:37042
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ... OMIM:192445
Glycogen Storage Disease Ib
Osteoporosis, Oral ulcer, Gout, Inflammation of the large intestine, Protuberant abdomen OMIM:232220
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Short nose, Joint hemorrhage, Epistaxis OMIM:277450
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Renal And Mullerian Duct Hypoplasia
Short nose, Micrognathia OMIM:266810
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility OMIM:619131
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Abnormality of the dentition OMIM:193100
Autosomal Dominant Cutis Laxa
Osteopenia, Joint laxity, Genu recurvatum, Hip dislocation, Bronchiectasis, Feeding difficulties,... ORPHA:90348
Cleft Soft Palate
Cleft soft palate OMIM:119570
Thoracolaryngopelvic Dysplasia
Laryngeal stenosis, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral en... OMIM:187760
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Death in infancy, Intestinal malrotation, Hypoperistalsis, Abdominal distent... ORPHA:2241
Chromosome 3Q29 Duplication Syndrome
Bulbous nose, Wide nasal bridge, Short nose OMIM:611936
Cloacal Exstrophy
Intestinal malrotation, Spina bifida, Myelomeningocele, Abnormal tibia morphology, Hip dislocatio... ORPHA:93929
Cocaine Intoxication
Respiratory distress, Abdominal pain, Intestinal perforation, Wheezing, Tachypnea, Pneumothorax, ... ORPHA:90068
Glycogen Storage Disease Ia
Intermittent diarrhea, Protuberant abdomen, Osteoporosis, Gout OMIM:232200
Moderate Hemophilia A
Gastrointestinal hemorrhage, Hip contracture, Arthropathy, Cartilage destruction, Limitation of j... ORPHA:169805
Toxic Epidermal Necrolysis
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Respiratory distress, Ab... ORPHA:537
Pontine Tegmental Cap Dysplasia
Facial palsy, Sensorineural hearing impairment, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosi... OMIM:614688
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Recurrent fractures, Sensorineural hearing impairment, Optic atrophy, Rickets,... OMIM:268315
Diamond-Blackfan Anemia 1
Micrognathia, Cleft upper lip, Spina bifida occulta, Depressed nasal ridge, Cleft palate, Hypopla... OMIM:105650
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Abdominal distention, Vertigo, Whe... ORPHA:97214
Loeys-Dietz Syndrome 6
Arachnodactyly, Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral d... OMIM:619656
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Block vertebrae, Missing ribs, Pectus excavatum, Myelomeningocel... OMIM:613686
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Congenital hip dislocation, Block vertebrae, Posteriorly placed anus, Aqued... OMIM:306955
Mckusick-Kaufman Syndrome
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... ORPHA:2473
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Hypoxemia ORPHA:2140
Orthostatic Hypotension 1
Nasal congestion, High palate, Brachydactyly OMIM:223360
Gallbladder Neuroendocrine Tumor
Abdominal distention, Nausea, Anorexia, Episodic abdominal pain ORPHA:100086
Alagille Syndrome 1
Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,... OMIM:118450
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies, Irregular ossificati... OMIM:260400
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Peroxisome Biogenesis Disorder 4B
Ataxia, Sensorineural hearing impairment, Gait disturbance, Decreased liver function, Short nose OMIM:614863
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Subglottic stenosis, Posteriorly rotated ears, Intestinal malrotation, High palate, Low-set ears,... OMIM:619657
Geleophysic Dysplasia 2
Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ... OMIM:614185
Lamb-Shaffer Syndrome
Abnormal social behavior ORPHA:530983
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Enamel hypoplasia, Amelogenesis imperfecta OMIM:245660
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Narrow mouth, Flexion contracture, Optic nerve hypoplasia, Thin ribs OMIM:614833
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Camptodactyly of finger, Abnormal rib morphology, Vertebral segmentation defec... ORPHA:1836
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Hydrocephalus, Abnormal rib morphology, Mecke... ORPHA:1666
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Epistaxis, Pneumonia, Abdominal pain, Hematemesis, Dyspnea, Diarrhea, Melen... ORPHA:340
Sirenomelia
Spina bifida, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, Anal atresia ORPHA:3169
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Pulmonary arteri... ORPHA:2396
Timothy Syndrome
Depressed nasal bridge, Cutaneous syndactyly OMIM:601005
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft palate, Hand polydactyly, Talipes equinovarus, Scoliosis OMIM:217100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera... OMIM:600785
Currarino Syndrome
Anal stenosis, Hemisacrum, Perianal abscess, Gastrointestinal obstruction, Abdominal distention, ... OMIM:176450
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Anorexia, Osteomalacia, Oral ulcer, Ar... OMIM:619381
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Phakomatosis Pigmentokeratotica
Hemiatrophy, Patchy alopecia, Scoliosis, Spina bifida ORPHA:2874
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:615512
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Unilateral deafness, Meningo... ORPHA:1010
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Fat malabsorption, Rickets, Epistaxis OMIM:211600
Cystinosis
Malabsorption, Rickets, Myopathy, Polydipsia, Abnormal repetitive mannerisms ORPHA:213
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... ORPHA:169189
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Xylt1-Cdg
Joint laxity, Joint dislocation, Cleft palate, Thick vermilion border, Short clavicles, Short fem... ORPHA:370930
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Neonatal death, Abdominal distention, Microcolon OMIM:619362
Q Fever
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Cough, Pleural effusion ORPHA:781
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Depressed nasal bridge, ... OMIM:225400
Methylmalonic Aciduria, Cblb Type
Feeding difficulties in infancy, Lethargy, Vomiting, Respiratory distress OMIM:251110
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Ataxia, Apnea, Feeding dif... OMIM:618426
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Short palm, Duodenal ulcer, Malabsorption, Sensorineural hearing impairment, Steatorrhea, Brachyd... ORPHA:3217
Ethylene Glycol Poisoning
Gastritis, Ataxia, Abnormal pattern of respiration, Tachypnea, Episodic respiratory distress, Add... ORPHA:31826
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies OMIM:307500
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion, Hepatic failure ORPHA:292
Congenital Tracheal Stenosis
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing, Tracheoe... ORPHA:141127
Sacral Defect With Anterior Meningocele
Myeloschisis, Hemisacrum, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilat... OMIM:600145
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... ORPHA:31204
Molybdenum Cofactor Deficiency, Complementation Group B
Feeding difficulties, Thick vermilion border, Long philtrum, Neonatal death, Short nose OMIM:252160
Methylmalonic Aciduria, Cbla Type
Feeding difficulties in infancy, Lethargy, Vomiting, Respiratory distress OMIM:251100
Kasabach-Merritt Syndrome
Respiratory distress, Abdominal distention, Hypopnea, Abdominal pain ORPHA:2330
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Epiphyseal stippling, Arthrogryposis multiplex congenita, Abnormal cartilage matrix, Abnormal bon... ORPHA:86822
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Abdominal distention, Bloody diarrhea, Intestinal atresia, Rectal abscess... ORPHA:436252
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat... OMIM:617821
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption OMIM:152800
Reactive Arthritis
Osteomyelitis, Joint stiffness, Abdominal pain, Cartilage destruction, Diarrhea, Respiratory insu... ORPHA:29207
Bent Bone Dysplasia Syndrome 2
Osteopenia, Depressed nasal bridge, Short tibia, Thin ribs, Coronal cleft vertebrae, Decreased ca... OMIM:620076
Inhalational Anthrax
Respiratory distress, Dyspnea, Vomiting ORPHA:247257
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Anteverted nares, Kyphosis, Midline defect of the nose, Scoliosis, Short hard ... ORPHA:1969
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormality of the humeroulnar joint, Abnormal rib morphology, Hemivertebrae, Abnormal form of th... ORPHA:2234
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Multiple joint dislocation, Hip dislocation, Thin ribs, Irr... OMIM:618395
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Esophageal atresia, ... OMIM:206900
Split Cord Malformation
Kyphoscoliosis, Hyperlordosis, Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelome... ORPHA:573278
Childhood Absence Epilepsy
Abnormal social behavior ORPHA:64280
Alström Syndrome
Respiratory distress, Abnormality of dental color, Thoracic scoliosis, Gingivitis, Gastroesophage... ORPHA:64
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Lethargy, Pneumothorax OMIM:620306
Neurofibromatosis, Type I
Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Scoliosis OMIM:162200
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Vertebral clefting, Rib fusion, Hemivertebrae OMIM:608681
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Feeding difficulties... ORPHA:1329
Hypophosphatemic Rickets, X-Linked Recessive
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... OMIM:300554
Alkaptonuria
Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Limited hip moveme... OMIM:203500
Cowden Syndrome
Hearing impairment, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplanta... ORPHA:201
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... ORPHA:93941
Long Qt Syndrome 8
Syndactyly OMIM:618447
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Neonatal respiratory distress, Prominent nose, Respiratory acidosis, Narrow... OMIM:614748
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Anorexia OMIM:611590
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Hydrocephalus, Feeding difficulties, Macroglossia, Pleural effusion OMIM:261740
Molybdenum Cofactor Deficiency, Complementation Group A
Feeding difficulties in infancy, Short nose, Thick vermilion border, Long philtrum OMIM:252150
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... ORPHA:210122
Hypercholanemia, Familial 1
Fat malabsorption, Rickets, Steatorrhea OMIM:607748
Colchicine Poisoning
Respiratory distress, Diarrhea, Cardiorespiratory arrest, Vomiting, Nausea ORPHA:31824
Pancreatoblastoma
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:677
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Rachit... ORPHA:157215
Dent Disease 1
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... OMIM:300009
Lethal Congenital Contracture Syndrome 5
Death in infancy, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction velocity... OMIM:615368
Isolated Posterior Meningocele
Thoracic hemivertebrae, Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephal... ORPHA:268810
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior ORPHA:1020
Townes-Brocks Syndrome
Rectoperineal fistula, External ear malformation, Absent toe, Abnormal rib morphology, Anteriorly... ORPHA:857
Osteogenesis Imperfecta, Type Xv
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... OMIM:615220
Arima Syndrome
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Postaxial hand polydactyly, Esophage... OMIM:243910
Axial Osteomalacia
Myopathy, Increased bone mineral density, Osteomalacia OMIM:109130
Weill-Marchesani Syndrome 4
Brachydactyly OMIM:613195
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Rickets, Steatorrhea ORPHA:79303
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea OMIM:115197
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Esophageal varix, Rickets, Re... OMIM:613658
Congenital Pulmonary Valvar Stenosis
Laryngeal stenosis ORPHA:3189
Klippel-Trenaunay-Weber Syndrome
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly OMIM:149000
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Depressed nasal bridge, Anteverted nares, Celiac disease, Sensorineural hearing impairment, Recur... ORPHA:293987
Grange Syndrome
Finger clinodactyly, Syndactyly, Brachydactyly OMIM:602531
Knobloch Syndrome 1
Occipital encephalocele, Depressed nasal bridge, Absent septum pellucidum, Microcephaly, Pyloric ... OMIM:267750
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Osteomalacia, Rickets OMIM:613388
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Rickets, Steatorrhea OMIM:607765
Arteriosclerosis, Severe Juvenile
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra OMIM:208060
Pagod Syndrome
Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Congenital diaphragm... ORPHA:991
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Oral-pharynge... ORPHA:273
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Coat hanger sign of ribs, Umbilical hernia, Thoracic hypoplasia ORPHA:254534
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Atresia Of Urethra
Abdominal distention, Patent urachus ORPHA:105
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Cystinosis, Nephropathic
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Rickets, Genu valgum, Myopathy, Dysphagia, Hy... OMIM:219800
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Lumbar Syndrome
Anal atresia, Myelomeningocele, Ectopic anus, Spina bifida ORPHA:83628
Ulnar-Mammary Syndrome
Subglottic stenosis, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the... OMIM:181450
Dent Disease
Enlargement of the ankles, Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, En... ORPHA:1652
Penile Agenesis
Depressed nasal bridge, Posteriorly rotated ears, Rectal fistula, Tracheoesophageal fistula, Shor... ORPHA:49
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Mckusick-Kaufman Syndrome
Syndactyly, Congenital hip dislocation, Aganglionic megacolon, Mesoaxial hand polydactyly, Postax... OMIM:236700
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Leptospirosis
Nausea and vomiting, Respiratory distress, Anorexia, Abdominal pain, Diarrhea, Cough, Pleural eff... ORPHA:509
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Intestinal malrotation, Feeding difficulties, Umbilical hernia, Intermitten... ORPHA:2255
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Hydrocephalus, Opt... OMIM:612301
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Aortic Arch Interruption
Feeding difficulties in infancy, Tachypnea, Respiratory distress, Exertional dyspnea ORPHA:2299
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia, Peptic ulcer, Chondrocalcinosis OMIM:600740
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Rachitic rosary OMIM:612089
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Abnormal rib morphology, Rhizomelic arm shortening... ORPHA:93317
Infantile Nephropathic Cystinosis
Polydipsia, Rickets ORPHA:411629
Exstrophy-Epispadias Complex
Anal stenosis, Spina bifida, Microcephaly, Hydrocephalus, Abnormal joint morphology, Anal atresia ORPHA:322
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior ORPHA:314647
Niemann-Pick Disease Type C
Abnormal social behavior ORPHA:646
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Familial Hypocalciuric Hypercalcemia
Osteomalacia, Peptic ulcer, Chondrocalcinosis ORPHA:405
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dlx5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dlx5.

No publications found that use IMPC mice or data for Dlx5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Dlx5tm40375(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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