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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...