Gene: Dlx5 MGI:101926

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.

Human diseases associated with Dlx5 (3 diseases)
Human diseases predicted to be associated with Dlx5 (2865 diseases)

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

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

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

Disease	Matching phenotypes	Source
Deafness, Autosomal Recessive 109	Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment	OMIM:618013
Deafness, Autosomal Dominant 80	Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear...	OMIM:619274
Deafness, X-Linked 6	Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment	OMIM:300914
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl...	OMIM:600791
Deafness-Oligodontia Syndrome	Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo	ORPHA:3230
Deafness, Autosomal Dominant 77	Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus	OMIM:618915
Cochleosaccular Degeneration-Cataract Syndrome	Cochlear degeneration, Progressive sensorineural hearing impairment	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	2-3 toe syndactyly, Choanal stenosis, Hypoplasia of the brainstem, Narrow nasal ridge, Cerebellar...	OMIM:236500
Waardenburg Syndrome, Type 2E	Sensorineural hearing impairment, Aplasia of the semicircular canal, Hypoplasia of the semicircul...	OMIM:611584
Teebi Hypertelorism Syndrome 2	High palate, Wide anterior fontanel, Delayed eruption of teeth, Microdontia, Short nose, Everted ...	OMIM:619736
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Low-set ears, Microtia, Underdevelo...	ORPHA:79113
Otodental Syndrome	Abnormal molar morphology, High-frequency sensorineural hearing impairment, Odontoma, Long philtr...	ORPHA:2791
Intellectual Disability, Birk-Barel Type	Incisor macrodontia, Congenital finger flexion contractures, Foot joint contracture, Hyperactivit...	ORPHA:166108
Otodental Dysplasia	Enamel hypoplasia, Sensorineural hearing impairment, Long philtrum, Delayed eruption of teeth, Pu...	OMIM:166750
Chromosome 16Q22 Deletion Syndrome	Sensorineural hearing impairment, Poor suck, Wide nasal bridge, Wide anterior fontanel, High pala...	OMIM:614541
Lissencephaly, X-Linked, 2	High palate, Diarrhea, Wide nasal bridge, Wide anterior fontanel, Long philtrum, Micrognathia, Fe...	OMIM:300215
Rubinstein-Taybi Syndrome 2	Retrognathia, Dental malocclusion, Talon cusp, Convex nasal ridge, Narrow palate, High palate, Pr...	OMIM:613684
Dislocation Of The Hip-Dysmorphism Syndrome	Hearing abnormality, Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Prominenc...	ORPHA:2412
Deafness, Autosomal Dominant 9	Cochlear degeneration, Postlingual sensorineural hearing impairment, Tinnitus, Vertigo	OMIM:601369
Smith-Magenis Syndrome	Hyperactivity, Mandibular prognathia, Everted upper lip vermilion, Wide nasal bridge, Velopharyng...	OMIM:182290
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, High palate, Wide anterior fontanel, Ataxia, Short nose, Posteriorly rotated ears,...	OMIM:601853
Acrocraniofacial Dysostosis	Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Pectus excav...	ORPHA:949
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia...	ORPHA:2570
Joubert Syndrome 18	Retrognathia, Lobulated tongue, Agenesis of cerebellar vermis, Arrhinencephaly, Talipes equinovar...	OMIM:614815
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the thumb, Spinal dysrap...	ORPHA:1908
Larsen-Like Syndrome	Dental malocclusion, Conductive hearing impairment, Joint dislocation, Wide anterior fontanel, Ab...	OMIM:608545
Lethal Osteosclerotic Bone Dysplasia	Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna...	ORPHA:1832
Craniometadiaphyseal Dysplasia	Genu varum, Genu valgum, Mandibular prognathia, High palate, Wide anterior fontanel, Natal tooth,...	OMIM:269300
Frontonasal Dysplasia 1	Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Hypoplasti...	OMIM:136760
Peroxisome Biogenesis Disorder 7A (Zellweger)	High palate, Wide anterior fontanel, Long philtrum, Death in infancy, Epiphyseal stippling, Large...	OMIM:614872
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Abnormality of the ear, Micrognathia, Split foot, Split hand, Malar flattening, C...	OMIM:183700
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormal bone ossification, Abnormality of the elbow, Wide anterior fontanel, Abnormality of cran...	ORPHA:163649
Hydrolethalus Syndrome 2	Micrognathia, Anencephaly, Preaxial foot polydactyly, Hydrocephalus, Postaxial foot polydactyly, ...	OMIM:614120
Pendred Syndrome	Cochlear malformation, Abnormal vestibular function, Congenital sensorineural hearing impairment	OMIM:274600
Aarskog-Scott Syndrome	Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pectus excavatum, Everted ...	ORPHA:915
Woolly Hair Nevus	Enlarged vestibular aqueduct	ORPHA:79414
Pendred Syndrome	Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm...	ORPHA:705
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Radioulnar synostos...	ORPHA:10
Lowry-Maclean Syndrome	Convex nasal ridge, Micrognathia, Cleft palate, Widely patent coronal suture, Choanal atresia, Ta...	ORPHA:2409
Brachydactyly, Type C	Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr...	OMIM:113100
Apert Syndrome	Morphological abnormality of the semicircular canal, Respiratory insufficiency, Conductive hearin...	ORPHA:87
Deafness, X-Linked 2	Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s...	OMIM:304400
Gillessen-Kaesbach-Nishimura Syndrome	Underdeveloped nasal alae, Retrognathia, Convex nasal ridge, Flexion contracture, Wide anterior f...	OMIM:263210
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, High palate, Abnormality of the elbow, Kyphosis, Wide anterior fontanel,...	ORPHA:3098
Snijders Blok-Campeau Syndrome	Enamel hypoplasia, High palate, Prominent nose, Wide nasal bridge, Widely spaced teeth, Taurodont...	OMIM:618205
49,Xxxxy Syndrome	Delayed eruption of teeth, Taurodontia, Hip dislocation, Elbow dislocation, Holoprosencephaly, Cl...	ORPHA:96264
Branchiootic Syndrome	Conductive hearing impairment, Lip pit, Sensorineural hearing impairment, Facial palsy, Micrognat...	ORPHA:52429
Czeizel-Losonci Syndrome	Hypoplastic helices, 2-3 finger syndactyly, Micrognathia, Spina bifida occulta, 1-2 finger syndac...	ORPHA:2437
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension, Protrusio acetabuli, Biconcave vertebral bodies, Dentinogenesis ...	OMIM:259420
Atkin-Flaitz Syndrome	Macrotia, Thick vermilion border, Maxillary lateral incisor microdontia, Everted lower lip vermil...	ORPHA:1193
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Convex nasal ridge, Webbed neck, Finger syndactyly, Microtia, Micr...	ORPHA:2145
Van Maldergem Syndrome 1	Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognathia, Camptodactyl...	OMIM:601390
Charlie M Syndrome	Triphalangeal thumb, Macrotia, Finger syndactyly, Wide nasal bridge, Micrognathia, Abnormal metac...	ORPHA:1406
Cleft Lip/Palate	Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera...	ORPHA:199306
Deafness, X-Linked 5, With Peripheral Neuropathy	Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Cochlear nerve hypoplasia,...	OMIM:300614
Chromosome 13Q33-Q34 Deletion Syndrome	Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Camptodactyly, Overla...	OMIM:619148
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Deep philtrum, Narrow nasal ridge, Prominence of the premaxilla, Short nose, Evert...	OMIM:137550
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Cleft lower lip, Cleft upper lip, Abnormal mandible morphology, Fusion of gu...	ORPHA:401942
Malan Syndrome	Retrognathia, Mandibular prognathia, Coxa valga, Advanced eruption of teeth, Hyperplasia of the p...	OMIM:614753
Cutis Laxa, Autosomal Recessive, Type Iia	High palate, Wide anterior fontanel, Long philtrum, Feeding difficulties in infancy, Short nose, ...	OMIM:219200
Lujan-Fryns Syndrome	Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Pectus excavatum, Hypoplasia ...	ORPHA:776
Marshall-Smith Syndrome	Irregular dentition, Bilateral conductive hearing impairment, Microdontia, Cholesteatoma, Pectus ...	OMIM:602535
Bartsocas-Papas Syndrome 2	Wide anterior fontanel, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pteryg...	OMIM:619339
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures	Widely-spaced incisors, Optic atrophy, Hypoplasia of the maxilla, Thin upper lip vermilion, Smoot...	OMIM:618737
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Kyphosis, Micrognathia, Depressed nasal bridge, Anteverted nares, Umbilic...	OMIM:618272
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Pectus excavatum, Scapular winging, Abnormal form of the vertebral bodie...	ORPHA:1327
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol...	ORPHA:1106
Smith-Magenis Syndrome	Cleft upper lip, Mandibular prognathia, Conductive hearing impairment, Delayed eruption of primar...	ORPHA:819
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C...	ORPHA:2839
Moebius Syndrome	Short phalanx of finger, Hand clenching, Hypoplasia of the brainstem, High palate, Aplasia/Hypopl...	OMIM:157900
Hydrolethalus	Retrognathia, Micrognathia, Arrhinencephaly, Anencephaly, Hydrocephalus, Bifid uvula, Submucous c...	ORPHA:2189
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br...	OMIM:614886
Zellweger Syndrome	Respiratory insufficiency, Hepatic failure, Sensorineural hearing impairment, Wide anterior fonta...	ORPHA:912
Temtamy Preaxial Brachydactyly Syndrome	Optic atrophy, Micrognathia, Microdontia, Abnormal optic disc morphology, Short hallux, Severe se...	ORPHA:363417
Catifa Syndrome	Long philtrum, Delayed eruption of teeth, Microtia, Camptodactyly, Attention deficit hyperactivit...	OMIM:618761
17Q21.31 Microduplication Syndrome	High palate, Micrognathia, Short philtrum, Short nose, Abnormality of the outer ear, Attention de...	ORPHA:217340
Distal Monosomy 10Q	Wide nasal bridge, Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of t...	ORPHA:96148
Van Maldergem Syndrome 2	Hip subluxation, Irregular dentition, Conductive hearing impairment, Wide nasal bridge, Micrognat...	OMIM:615546
20P12.3 Microdeletion Syndrome	Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Depressed nasal bridge, Na...	ORPHA:261295
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	ORPHA:3236
Trisomy 18-Like Syndrome	Micrognathia, Abnormal pinna morphology, Low-set ears, Wide nasal bridge	OMIM:601161
Mandibulofacial Dysostosis With Alopecia	Conductive hearing impairment, Delayed eruption of primary teeth, Wide nasal bridge, Microtia, Lo...	OMIM:616367
Shprintzen-Goldberg Craniosynostosis Syndrome	Conductive hearing impairment, Feeding difficulties in infancy, Micrognathia, Camptodactyly, Disl...	OMIM:182212
Sweeney-Cox Syndrome	Wide nasal bridge, Micrognathia, Prominent metopic ridge, Uplifted earlobe, Cupped ear, Hearing i...	OMIM:617746
Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies	Short 5th finger, Micrognathia, Thin upper lip vermilion, Scoliosis, Anteverted nares, Low-set ea...	OMIM:618608
Cranioectodermal Dysplasia	Rhizomelia, Microdontia, Hypodontia, Taurodontia, Pectus excavatum, Everted lower lip vermilion, ...	ORPHA:1515
Crouzon Syndrome	Convex nasal ridge, Narrow palate, Conductive hearing impairment, Narrow internal auditory canal,...	ORPHA:207
Acrofacial Dysostosis Syndrome Of Rodriguez	Prominent nose, Wide anterior fontanel, Wide nasal bridge, High palate, Micrognathia, Short philt...	OMIM:201170
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Hydrocephalus, Protruding ear, Wide nasal bridge	OMIM:618302
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Wide mouth, Wide nasal bridge, Microtia, Micrognathia, Ecto...	ORPHA:1703
Fibrochondrogenesis 1	Wide anterior fontanel, Joint contracture of the hand, Long philtrum, Camptodactyly, Widely paten...	OMIM:228520
Progeroid Syndrome, Petty Type	Mandibular prognathia, Wide anterior fontanel, Everted lower lip vermilion, Tooth agenesis, Decre...	ORPHA:2963
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,...	OMIM:130720
3Mc Syndrome 2	Cleft upper lip, Partial abdominal muscle agenesis, High palate, Limited elbow movement, Wide nas...	OMIM:265050
Cranioectodermal Dysplasia 4	Sagittal craniosynostosis, Taurodontia, Joint hypermobility, Pectus excavatum, Short distal phala...	OMIM:614378
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Gastroesophageal reflux, Wide anterior fontanel, Wide nasal bridge, Thic...	OMIM:616920
Acrorenal Syndrome	Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of...	ORPHA:971
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Flexion contracture, Prominent nose, Short middle phalanx of the 5th finger, Hip dislocation, Tho...	OMIM:203550
Split-Hand/Foot Malformation 3	High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Split hand, Abnormal pi...	OMIM:246560
Chromosome Xq21 Deletion Syndrome	Incomplete partition of the cochlea, Hearing impairment, Conductive hearing impairment, Progressi...	OMIM:303110
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, Stapes ankylosis, Long philtrum, Wide nasal bridge, Short femoral neck, Velop...	OMIM:614701
Marden-Walker Syndrome	High palate, Wide anterior fontanel, Joint contracture of the hand, Kyphosis, Long philtrum, Micr...	OMIM:248700
Branchiogenic-Deafness Syndrome	Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa...	OMIM:609166
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Cousin Syndrome	Wrist flexion contracture, Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Humeroradia...	OMIM:260660
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Aqueductal stenosis, Microtia, Arrhinencephaly, Talipes equinovarus, Radioulna...	ORPHA:1788
Acrootoocular Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Choking e...	ORPHA:2980
48,Xxxy Syndrome	Mandibular prognathia, Depressed nasal ridge, Delayed eruption of teeth, Taurodontia, Hip disloca...	ORPHA:96263
Orofaciodigital Syndrome Vi	Conductive hearing impairment, Toe syndactyly, Micrognathia, Short femur, Radial deviation of fin...	OMIM:277170
Achondroplasia	Short nasal bridge, Wide anterior fontanel, Kyphosis, Central sleep apnea, Flat acetabular roof, ...	ORPHA:15
Bor Syndrome	Retrognathia, Abnormality of the middle ear ossicles, Hypoplasia of the cochlea, Facial palsy, En...	ORPHA:107
Craniofacial-Deafness-Hand Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Sensorineural hearing impairment,...	ORPHA:1529
Pycnodysostosis	Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Increased bone mineral density,...	ORPHA:763
Auriculocondylar Syndrome 2	Micrognathia, Cleft palate, Feeding difficulties, Glossoptosis, Hearing impairment, Posteriorly r...	OMIM:614669
Oculoauriculovertebral Spectrum With Radial Defects	Atresia of the external auditory canal, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, C...	ORPHA:2549
Schinzel-Giedion Syndrome	Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Abnormal tho...	ORPHA:798
Fetal Akinesia Deformation Sequence 4	Retrognathia, 11 pairs of ribs, Prenatal death, High palate, Kyphosis, Wide nasal bridge, Microgn...	OMIM:618393
Conductive Deafness-Malformed External Ear Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, High palate, Microtia, Abnormali...	ORPHA:3216
Rhizomelic Syndrome	Micrognathia, Hip dislocation, Wide anterior fontanel	OMIM:268250
Intellectual Developmental Disorder, Autosomal Dominant 21	Incisor macrodontia, Long philtrum, Narrow mouth, Thin vermilion border, Cleft palate, Low-set ea...	OMIM:615502
Momo Syndrome	Short sternum, Dental malocclusion, High palate, Long philtrum, Wide nasal bridge, Delayed erupti...	OMIM:157980
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,...	ORPHA:2789
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Wide anterior fontanel, Gingival hyperkeratosis, Micr...	OMIM:225410
Craniodiaphyseal Dysplasia, Autosomal Dominant	Choanal stenosis, Mandibular prognathia, Thickened ribs, Wide nasal bridge, Optic atrophy, Cranio...	OMIM:122860
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Tooth agenesis, Ameloge...	OMIM:618363
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Abnormality of the philtrum, High palate, Wide nasal bridge, Delayed eru...	ORPHA:2863
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Pierre-Robin sequence, Wide anterior fontanel, Micrognathia, Respiratory distress, Short nose, An...	OMIM:217980
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, High palate, Hypoplasia of the maxilla, Short palm, Prominent nasal brid...	ORPHA:85279
Tetrasomy 5P	Pulmonary arterial hypertension, High palate, Wide anterior fontanel, Wide nasal bridge, Long phi...	ORPHA:3309
Dentin Dysplasia, Type I	Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss...	OMIM:125400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, Epiphyseal stippling, Dysphagia, Unsteady gait, Feeding difficulties, Hearing impai...	OMIM:214100
Amelogenesis Imperfecta	Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa...	ORPHA:88661
Momo Syndrome	Thick upper lip vermilion, Dental malocclusion, Short sternum, High palate, Long philtrum, Abnorm...	ORPHA:2563
Brachydactyly, Type B1	Delayed cranial suture closure, Thoracolumbar scoliosis, Vertebral fusion, Wide anterior fontanel...	OMIM:113000
Branchiootic Syndrome 1	Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M...	OMIM:602588
Opitz-Kaveggia Syndrome	Delayed closure of the anterior fontanelle, Micrognathia, Camptodactyly, Broad hallux, Short neck...	OMIM:305450
Oculodentodigital Dysplasia, Autosomal Recessive	Underdeveloped nasal alae, Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary...	OMIM:257850
Distal Monosomy 1Q	Micrognathia, Depressed nasal bridge, Thin vermilion border, Smooth philtrum, Low-set ears	ORPHA:36367
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Convex nasal ridge, Conductive hearing impairment, Optic atrophy, Hydrocephalus, Hypoplasia of th...	ORPHA:93262
Oculodentodigital Dysplasia	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Optic atrophy, Mic...	ORPHA:2710
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Macrotia, High palate, Flexion contracture, Wide nasal bridge, Decreased motor nerve conduction v...	OMIM:218000
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Alveolar process hypoplasia, Genu valgum, Delayed eruption of teeth, Hypodontia, Abnormality of d...	ORPHA:2972
Neonatal Adrenoleukodystrophy	Sensorineural hearing impairment, Wide anterior fontanel, Wide nasal bridge, Abnormal palate morp...	ORPHA:44
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Abnormal vertebral morphology, Short nose, Thin upper lip vermilion, Anteverted nar...	ORPHA:2015
Filippi Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Optic atrophy, Hypodontia, Microdontia, Abnormality...	OMIM:272440
Anauxetic Dysplasia 3	Hip subluxation, Gastroesophageal reflux, Genu valgum, Retrognathia, Wide anterior fontanel, Olig...	OMIM:618853
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Retrognathia, Hyperactivity, High palate, Sensorineural hearing impairment, Wide nasal bridge, Lo...	OMIM:618342
Zaki Syndrome	Wide nose, Sparse eyebrow, Sparse scalp hair, Sparse lateral eyebrow, High palate, Wide nasal bri...	OMIM:619648
Eem Syndrome	Sparse body hair, Sparse scalp hair, Finger syndactyly, Absent eyebrow, Carious teeth, Ectrodactyly	ORPHA:1897
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab...	OMIM:128980
Meckel Syndrome 12	Wide nasal bridge, Cerebellar hypoplasia, Micrognathia, Arrhinencephaly, Cerebral hypoplasia, Age...	OMIM:616258
Carey-Fineman-Ziter Syndrome 2	Underdeveloped nasal alae, Long philtrum, Abnormal nasal septum morphology, Abnormal skeletal mus...	OMIM:619941
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, High palate, Progressive hearing impairment, Hyperextensibility of the...	OMIM:613849
Isolated Congenital Hypoglossia/Aglossia	Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Aspiration pneumonia, T...	ORPHA:141152
Coffin-Lowry Syndrome	Optic atrophy, Delayed eruption of teeth, Pectus excavatum, Everted lower lip vermilion, Thick na...	ORPHA:192
Trichodentoosseous Syndrome	Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth	OMIM:190320
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Macrotia, Short philtrum, Hypoplasia of the maxilla, Bulbous nose, Cupped ear	ORPHA:93945
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Kyphosis, Tongue atrophy, Delayed eruption of teeth, Microt...	OMIM:141300
Autosomal Recessive Cutis Laxa Type 2A	Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, Lo...	ORPHA:357058
Cleidocranial Dysplasia 2	Genu valgum, Delayed eruption of primary teeth, Wide anterior fontanel, Delayed ossification of c...	OMIM:620099
Mmep Syndrome	Triphalangeal thumb, Split foot, Mandibular prognathia, Microcephaly	ORPHA:3434
Clark-Baraitser syndrome	Genu valgum, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated med...	OMIM:300602
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Choanal stenosis, Flexion contracture, Wide anterior fontanel, Humeroradial synostosis, Long phil...	OMIM:207410
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Wide nasal bridge, Delayed eruption of teeth, Camptodactyly, Pectu...	OMIM:235510
Usher Syndrome Type 3	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology	ORPHA:231183
Dubowitz Syndrome	Abnormal antihelix morphology, Delayed cranial suture closure, Respiratory insufficiency, Delayed...	ORPHA:235
20P13 Microdeletion Syndrome	Hypoplastic helices, Wide anterior fontanel, Thin upper lip vermilion, Tented upper lip vermilion...	ORPHA:313781
Frank-Ter Haar Syndrome	Camptodactyly of finger, Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Wide nasal...	ORPHA:137834
Chromosome 22Q11.2 Duplication Syndrome	High palate, Depressed nasal ridge, Micrognathia, Velopharyngeal insufficiency, Abnormal pinna mo...	OMIM:608363
Short-Rib Thoracic Dysplasia 12	Holoprosencephaly, Short neck, Short palm, Posteriorly rotated ears, Short toe, Hydrocephalus, Bo...	OMIM:269860
8Q22.1 Microdeletion Syndrome	Camptodactyly of finger, Abnormal antihelix morphology, Abnormal nostril morphology, Long philtru...	ORPHA:178303
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Hearing impairment, Delayed eruption of teeth	ORPHA:2222
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged...	ORPHA:90646
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Wide anterior fontanel, Short nose, Intestinal malrotation, Dep...	ORPHA:2143
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Knee flexion contracture, Mandibular prognathia, Sensorineural hearing impairment, Tapered finger...	ORPHA:435938
Craniolenticulosutural Dysplasia	Delayed closure of the anterior fontanelle, Wide nasal bridge, Delayed eruption of teeth, Bifid u...	OMIM:607812
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Underdeveloped nasal alae, Microdontia, Hypodo...	OMIM:129400
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Sensorineural hearing impairment, Craniofacial hyperostosis, Abnormal cort...	ORPHA:2790
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, High palate, Prominent nose, Wide nasal bridge, Hydrocephalus, Depressed n...	ORPHA:2180
Coffin-Siris Syndrome 2	Wide nose, Hyperactivity, High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thic...	OMIM:614607
Atkin-Flaitz Syndrome	Genu valgum, Kyphosis, Prominent median palatal raphe, Thick lower lip vermilion, Exaggerated med...	OMIM:300431
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Stickler Syndrome Type 1	Sensorineural hearing impairment, Long philtrum, Short nose, Hypoplasia of the maxilla, Joint hyp...	ORPHA:90653
Thanatophoric Dysplasia Type 1	Wide anterior fontanel, Kyphosis, Short greater sciatic notch, Hypoplastic ilia, Hydrocephalus, S...	ORPHA:1860
Catel-Manzke Syndrome	Camptodactyly of finger, Micrognathia, Oral synechia, Pectus excavatum, Chronic otitis media, Sco...	ORPHA:1388
Lethal Kniest-Like Dysplasia	Wide anterior fontanel, Abnormal cartilage matrix, Abnormal cartilage morphology, Hypoplastic ver...	ORPHA:2347
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Flexion contracture, Hip dislocation, Thin vermilion border, Smooth philtrum, Hearing impairment,...	ORPHA:481152
Intellectual Disability And Myopathy Syndrome	Incisor macrodontia, Dental malocclusion, Achilles tendon contracture, Thin upper lip vermilion, ...	OMIM:619719
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Wide mouth, Short nose, Delayed eruption of permanent teeth, Anteverted nares, Low-set ears, Exag...	OMIM:618506
Acces Syndrome	Retrognathia, Sparse scalp hair, Hip dysplasia, Hip dislocation, Protruding ear, Clinodactyly of ...	OMIM:619959
Mohr Syndrome	Lobulated tongue, Conductive hearing impairment, Bifid tongue, High palate, Tongue nodules, Micro...	OMIM:252100
Maxillonasal Dysplasia	Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert...	ORPHA:1248
Craniodiaphyseal Dysplasia	Conductive hearing impairment, Wide nasal bridge, Optic atrophy, Craniofacial hyperostosis, Depre...	ORPHA:1513
Jackson-Weiss Syndrome	2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Convex nasal ridge, Mandib...	ORPHA:1540
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Optic atrophy, Death in infancy, Micrognathia, Arthrogryposis multiplex congenita, Depressed nasa...	OMIM:618766
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Widely spaced teeth, Micrognathia, Hyperplasia of the maxilla, Recurre...	OMIM:617616
Multicentric Osteolysis, Nodulosis, And Arthropathy	Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,...	OMIM:259600
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Flexion contracture, Micrognathia, Pectus excavatum, Smooth philtrum, Furrowed tongue, Lower limb...	OMIM:300534
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Abnormal number of incisors, Prominent nose, Patellar subluxation, Supernumerary ri...	ORPHA:2958
Orofaciodigital Syndrome Xix	Cleft soft palate, Wide nasal bridge, Microdontia, Additional crus of antihelix, Cupped ear, Thic...	OMIM:620107
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Abnormal antihelix morphology, Convex nasal ridge, Conductive hea...	ORPHA:794
Florid Cemento-Osseous Dysplasia	Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel...	ORPHA:83451
Oculodentodigital Dysplasia	Conductive hearing impairment, Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocatio...	OMIM:164200
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, High palate, Sensorineural hearin...	ORPHA:1307
Renpenning Syndrome	Mandibular prognathia, Prominent nose, Round ear, Macrotia, Sensorineural hearing impairment, Sho...	ORPHA:3242
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Dentinogenesis Imperfecta	Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil...	ORPHA:49042
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Conductive hearing impairment, Short 5th finger, Microtia, Micrognathia, Bifid n...	OMIM:239800
Gapo Syndrome	Delayed cranial suture closure, Delayed closure of the anterior fontanelle, Eruption failure, Wid...	OMIM:230740
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Obtuse angle of mandible, Vertebral arch anomaly, Thin bony cortex, High palate, Wide anterior fo...	ORPHA:85184
X-Linked Intellectual Disability Due To Gria3 Mutations	Short upper lip, Abnormality of muscle size, Mandibular prognathia, Narrow palate, Macrodontia of...	ORPHA:364028
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed cranial suture closure, Conductive hearing impairment, Wide nasal bridge, Delayed eruptio...	ORPHA:2780
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	High palate, Wide anterior fontanel, Long philtrum, Pyloric stenosis, Submucous cleft hard palate...	ORPHA:457279
Opitz Gbbb Syndrome	Umbilical hernia, Gastroesophageal reflux, Cleft upper lip, High palate, Wide anterior fontanel, ...	OMIM:300000
Coffin-Siris Syndrome 3	Wide nose, Central diaphragmatic hernia, High palate, Long philtrum, Wide mouth, Macroglossia, Jo...	OMIM:614608
Usher Syndrome Type 1	Vestibular hypofunction, Sensorineural hearing impairment, Abnormal cochlea morphology	ORPHA:231169
Primary Ciliary Dyskinesia	Conductive hearing impairment, Hydrocephalus, Nasal polyposis, Chronic sinusitis, Recurrent otiti...	ORPHA:244
Nance-Horan Syndrome	Supernumerary maxillary incisor, Macrotia, Screwdriver-shaped incisors, Prominent nose, Mulberry ...	OMIM:302350
Cohen Syndrome	Short metatarsal, Genu valgum, Convex nasal ridge, Macrodontia of permanent maxillary central inc...	OMIM:216550
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate, Bulbous nose, Hearing impairment, ...	OMIM:619981
Acrocallosal Syndrome	Everted upper lip vermilion, Wide nasal bridge, Bifid uvula, Abnormal oral frenulum morphology, T...	OMIM:200990
Noonan Syndrome	Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai...	ORPHA:648
Holoprosencephaly 7	Wide nasal bridge, Lobar holoprosencephaly, Median cleft lip, Holoprosencephaly, Hypoplastic nasa...	OMIM:610828
Seckel Syndrome 5	Retrognathia, Enamel hypoplasia, 11 pairs of ribs, Convex nasal ridge, High palate, Selective too...	OMIM:613823
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Cerebellar hypoplasia, Anencephaly, Bifid uvula, Camptodactyly, Dand...	OMIM:614175
Ciliary Dyskinesia, Primary, 2	Absent inner and outer dynein arms, Nasal polyposis, Sinusitis, Otitis media, Hearing impairment	OMIM:606763
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Sensorineural hearing impairment, Delayed eruption of teeth, Short phi...	ORPHA:71267
Carpenter Syndrome 1	Conductive hearing impairment, Lateral displacement of patellae, Optic atrophy, Micrognathia, Cam...	OMIM:201000
Microcephaly-Capillary Malformation Syndrome	Wide nose, Low-set ears, Optic atrophy, Short nose, Hypoplasia of the maxilla, Short distal phala...	OMIM:614261
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Recurrent bronchitis, Chronic otitis media, Chronic sinusitis	OMIM:604571
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Cerebral cortical atrophy, Tapered finger, Toe syndactyly, Micrognathia,...	ORPHA:251014
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly...	OMIM:183600
Nager Syndrome	Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Wide mouth, Microtia, Abnormal nasal morp...	ORPHA:245
Six2-Related Frontonasal Dysplasia	Wide anterior fontanel, Absent/hypoplastic paranasal sinuses, Premature posterior fontanelle clos...	ORPHA:488437
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Hearing abnormality, Prominent nose, Radioulnar synostosis, Pectus excavatum, Abnormal palate mor...	ORPHA:3270
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Vomiting, Respiratory failure, Wide anterior fontanel, Inability to walk, Reye syn...	ORPHA:26791
Congenital Disorder Of Glycosylation, Type Iy	Macrotia, Joint dislocation, Wide mouth, Widely spaced teeth, Micrognathia, Respiratory distress,...	OMIM:300934
Arthrogryposis, Distal, Type 2E	Distal arthrogryposis, Foot joint contracture, Joint contracture of the hand, Micrognathia, Absen...	OMIM:121070
Non-Distal Trisomy 10Q	Convex nasal ridge, High palate, Micrognathia, Short nose, Everted lower lip vermilion, Pectus ex...	ORPHA:1695
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Cleft palate, Scapular winging, Short palm, Malar flattening, Bulbous nose, Short f...	OMIM:170390
Intellectual Developmental Disorder, Autosomal Recessive 69	Facial hypotonia, Hyperplasia of the maxilla	OMIM:618383
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Macrotia, Mandibular prognathia, Anal atresia	ORPHA:93950
Cerebrocostomandibular Syndrome	Meningocele, Conductive hearing impairment, Webbed neck, Myelomeningocele, Kyphosis, Death in inf...	ORPHA:1393
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Wide nasal bridge, Optic atrophy, Facial palsy, Broad alveolar ridges, Abn...	OMIM:218400
Acrodysostosis	Short toe, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of t...	ORPHA:950
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger ...	OMIM:309520
Aminopterin Syndrome Sine Aminopterin	Thoracic scoliosis, High palate, Joint contracture of the hand, Frontal upsweep of hair, Microgna...	OMIM:600325
Diastrophic Dysplasia	Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla...	ORPHA:628
Acrofrontofacionasal Dysostosis 2	Wide nose, High palate, Wide anterior fontanel, Low-set ears, Overfolded helix, Posteriorly rotat...	OMIM:239710
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Delayed cranial suture closure, Wide anterior fontanel, Kyphosis, Ectopic anus, Coronal craniosyn...	ORPHA:85199
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Incisor macrodontia, Underdeveloped nasal alae, High palate, Wide nasal bridge, Thin upper lip ve...	ORPHA:438216
Peroxisome Biogenesis Disorder 5A (Zellweger)	Sensorineural hearing impairment, Poor suck, Wide anterior fontanel, High palate, Death in infanc...	OMIM:614866
Osteolysis Syndrome, Recessive	Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol...	OMIM:259610
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Central apnea, Gastroesophageal reflux, Pulmonary arterial hypertension, Respiratory failure, Wid...	OMIM:616482
Neurofaciodigitorenal Syndrome	Abnormality of the philtrum, Mandibular prognathia, Abnormality of the elbow, Hypoplasia of the p...	ORPHA:2673
Aicardi Syndrome	Bifid ribs, Cleft upper lip, Small hand, Optic atrophy, Block vertebrae, Malabsorption, Supernume...	ORPHA:50
Monosomy 5P	High palate, Finger syndactyly, Wide nasal bridge, Small hand, Microretrognathia, Short neck, Sco...	ORPHA:281
Ciliary Dyskinesia, Primary, 35	Chronic rhinitis, Nasal polyposis, Chronic otitis media, Chronic sinusitis	OMIM:617092
Campomelic Dysplasia	Irregular dentition, Conductive hearing impairment, Spinal dysraphism, Micrognathia, Hip dislocat...	OMIM:114290
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of...	OMIM:156510
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Wide mouth, Wide nasal bridge, Macroglossia, ...	OMIM:618729
Acrocraniofacial Dysostosis	Wide nose, Conductive hearing impairment, Sensorineural hearing impairment, Short first metatarsa...	OMIM:201050
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging...	OMIM:616331
Trisomy 18	Camptodactyly of finger, Narrow pelvis bone, Holoprosencephaly, Postaxial hand polydactyly, Cleft...	ORPHA:3380
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Micrognathia, Camptodactyly, Gingival overgrowth, Anterior concav...	OMIM:249420
Mcdonough Syndrome	Underdeveloped nasal alae, Dental malocclusion, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:2471
Treacher-Collins Syndrome	Conductive hearing impairment, Wide nasal bridge, Micrognathia, Tooth agenesis, Abnormality of bo...	ORPHA:861
Pde4D Haploinsufficiency Syndrome	Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Hearing impairment, Posterior...	ORPHA:439822
Hypothyroidism, Congenital, Nongoitrous, 4	Wide anterior fontanel, Macroglossia, Depressed nasal bridge, Feeding difficulties, Umbilical hernia	OMIM:275100
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Genu valgum, Widely-spaced incisors, Irregular vertebral endplates, Short femoral neck, Oligodont...	OMIM:601668
Hartsfield Syndrome	Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Lobar holoprosencephaly, Depressed nasa...	ORPHA:2117
Cooper-Jabs Syndrome	Camptodactyly of finger, Reduced bone mineral density, Conductive hearing impairment, Missing rib...	ORPHA:1488
Craniosynostosis And Dental Anomalies	Stapes ankylosis, Convex nasal ridge, Conductive hearing impairment, Delayed eruption of teeth, P...	OMIM:614188
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Convex nasal ridge, Abnormal shoulder morphology, Brachydactyly	ORPHA:1277
Distal Monosomy 13Q	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Anence...	ORPHA:1590
Keipert Syndrome	Sensorineural hearing impairment, Hypoplasia of the maxilla, Depressed nasal bridge, Short hallux...	ORPHA:2662
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Chronic sinusitis, Recurrent otitis media, Nasal congestion, Absent outer dynein...	OMIM:616037
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Wide nasal bridge, Narrow chest, Micrognathia, Short philtrum, Downturned corners of ...	ORPHA:93267
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed closure of the anterior fontanelle, Macrotia, Kyphosis, Widely spaced teeth, Thick lower ...	OMIM:619797
Spinocerebellar Ataxia, Autosomal Recessive 20	High palate, Long philtrum, Sensorineural hearing impairment, Delayed eruption of teeth, Camptoda...	OMIM:616354
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Hearing impairm...	ORPHA:2325
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Atelosteogenesis, Type Iii	Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular roof, Tombstone-shaped proximal p...	OMIM:108721
Pyle Disease	Thin bony cortex, Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed erupti...	OMIM:265900
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, High palate, Diarrhea, Projectile vomiting, Abdominal distenti...	OMIM:620045
Oculoskeletodental Syndrome	Retrognathia, Enamel hypoplasia, Hyperlordosis, Conductive hearing impairment, Sensorineural hear...	ORPHA:557003
Immunodeficiency 13	Nasal polyposis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent oti...	OMIM:615518
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial ...	OMIM:268310
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta	OMIM:104530
Cornelia De Lange Syndrome 2	High palate, Limited elbow movement, Small hand, Micrognathia, Synophrys, Clinodactyly, Long eyel...	OMIM:300590
Temple-Baraitser Syndrome	Wide nose, Macrotia, High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of...	ORPHA:420561
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Short 5th finger, Micrognathia, Clinodactyly of the 5th finger, Syndactyly, Small pl...	ORPHA:397590
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Peroxisome Biogenesis Disorder 11A (Zellweger)	Wide anterior fontanel, Apnea, Depressed nasal bridge, Large fontanelles, Anteverted nares, Decre...	OMIM:614883
Fraser Syndrome 1	Conductive hearing impairment, Midline nasal groove, Wide nasal bridge, Abnormality of the anus, ...	OMIM:219000
Gingival Fibromatosis-Progressive Deafness Syndrome	Sensorineural hearing impairment, Gingival fibromatosis, Gingival overgrowth, Delayed eruption of...	ORPHA:2027
Cleidocranial Dysplasia	Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Abnormal rib morphology, Cleft pal...	ORPHA:1452
Lambotte Syndrome	Retrognathia, Convex nasal ridge, Macrotia, Semilobar holoprosencephaly, Narrow mouth, Atresia of...	OMIM:245552
Aarskog-Scott Syndrome	Cleft upper lip, Short 5th finger, Short foot, Wide nasal bridge, Hyperextensibility of the finge...	OMIM:305400
Frontorhiny	Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Cranium...	ORPHA:391474
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Gastroesophageal reflux, Death in infancy, Micrognathia, Short nose, Rec...	ORPHA:1495
Ciliary Dyskinesia, Primary, 1	Conductive hearing impairment, Recurrent bronchitis, Communicating hydrocephalus, Nasal polyposis...	OMIM:244400
Ciliary Dyskinesia, Primary, 15	Nasal polyposis, Chronic sinusitis, Recurrent otitis media, Abnormal axonemal organization of res...	OMIM:613808
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Alopecia-Intellectual Disability Syndrome	Sparse body hair, Alopecia, Macrotia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnor...	ORPHA:2850
Acro-Renal-Mandibular Syndrome	Micrognathia, Hip dislocation, Butterfly vertebrae, Short neck, Rudimentary to absent tibiae, Hyp...	ORPHA:958
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Webbed neck, Branchial anomaly, Sensorineural hearing impairment, ...	ORPHA:1131
Congenital Myopathy 19	Bell-shaped thorax, High palate, Depressed nasal ridge, Micrognathia, Facial hypotonia, Skeletal ...	OMIM:618578
Ritscher-Schinzel Syndrome 3	Wide anterior fontanel, Death in infancy, Micrognathia, Poorly ossified vertebrae, Epiphyseal sti...	OMIM:619135
Symphalangism With Multiple Anomalies Of Hands And Feet	Conductive hearing impairment, Reduced proximal interphalangeal joint space, Finger syndactyly, A...	ORPHA:3246
Marshall Syndrome	Thick upper lip vermilion, Pierre-Robin sequence, Long philtrum, Macrodontia of permanent maxilla...	OMIM:154780
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, Notched primary central incisor	OMIM:620062
Kagami-Ogata Syndrome	Retrognathia, Bell-shaped thorax, Flexion contracture, Diastasis recti, Long philtrum, Microtia, ...	OMIM:608149
11Q22.2Q22.3 Microdeletion Syndrome	Small hand, Micrognathia, Clinodactyly of the 5th finger, Thick eyebrow, Bilateral single transve...	ORPHA:444002
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Underdeveloped nasal alae, Webbed neck, Hydranencephaly, Microcephaly, Short distal phalanx of fi...	OMIM:601355
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Microcephaly, Abnormal nasal base norpholog...	ORPHA:1919
Cerebrooculofacioskeletal Syndrome 1	Knee flexion contracture, Flexion contracture, Prominent nose, Long philtrum, Joint contracture o...	OMIM:214150
Intellectual Developmental Disorder, Autosomal Recessive 74	Mandibular prognathia, Narrow palate, Prominent nose, Wide nasal bridge, Brachydactyly	OMIM:617169
Johnson Neuroectodermal Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Facial palsy, Ev...	ORPHA:2316
Alg9-Cdg	Delayed cranial suture closure, Convex nasal ridge, Diarrhea, Micrognathia, Bifid uvula, Large fl...	ORPHA:79328
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Wide anterior fontanel, Natal tooth, Microtia, Absent nasal bridge, Micrognathia, Anal atresia, E...	OMIM:617925
Chondrodysplasia With Joint Dislocations, Gpapp Type	Patellar dislocation, Wide nasal bridge, Micrognathia, Limited elbow extension, Cleft palate, Kne...	OMIM:614078
Crouzon Syndrome	Sagittal craniosynostosis, Mandibular prognathia, High palate, Conductive hearing impairment, Opt...	OMIM:123500
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the brainstem, Cerebellar hypoplasia, Micrognathia, Agenesis of corpus callosum, Hy...	OMIM:225790
Congenital Arthrogryposis With Anterior Horn Cell Disease	Retrognathia, High palate, Kyphosis, Paucity of anterior horn motor neurons, Micrognathia, Facial...	OMIM:611890
Phocomelia, Schinzel Type	Meningocele, Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the r...	ORPHA:2879
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Micrognathia, Flared iliac wing, Apla...	OMIM:609945
Lowry-Maclean Syndrome	Convex nasal ridge, Diaphragmatic eventration, Delayed eruption of teeth, Cleft palate, Craniosyn...	OMIM:600252
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	Sparse eyebrow, Sparse scalp hair, Joint contracture of the hand, 2-3 finger syndactyly, 2-4 fing...	OMIM:225280
Osteoglosphonic Dysplasia	Abnormal bone ossification, Rhizomelia, Micrognathia, Protruding ear, Multiple unerupted teeth, T...	ORPHA:2645
Trisomy 8P	Retrognathia, Metopic suture patent to nasal root, Conductive hearing impairment, Multiple joint ...	ORPHA:264450
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Hearing abnormality, Hyperlordosis, Mandibular prognathia, Cone-s...	ORPHA:2511
Blepharophimosis-Impaired Intellectual Development Syndrome	Flexion contracture, Wide nasal bridge, Microdontia, Posteriorly rotated ears, Underdeveloped nas...	OMIM:619293
Raine Syndrome	Thoracic hypoplasia, Micrognathia, Microdontia, Increased bone mineral density, Pectus excavatum,...	OMIM:259775
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Underdeveloped nasal alae, Conductive hearing impairment, High palate, Wide nasal bridge, Microti...	OMIM:248910
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, High palate, Kyphosis, Pectus excavatum, Hypoplasia of the maxilla, Scolio...	OMIM:300676
Trichorhinophalangeal Syndrome, Type I	Ivory epiphyses of the distal phalanges of the hand, Delayed eruption of teeth, Micrognathia, Mic...	OMIM:190350
Codas Syndrome	Sensorineural hearing impairment, Short metacarpal, Delayed eruption of teeth, Crumpled ear, Abno...	ORPHA:1458
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Hearing abnormality, Pierre-Robin sequence, Micrognathia, Downturned corners of mouth, Narrow mou...	ORPHA:1150
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the philtrum, Microretrognathia, Abnormal clavicle morphology, Abnormal rib morpho...	ORPHA:276422
Johnson Neuroectodermal Syndrome	Retrognathia, Choanal stenosis, Conductive hearing impairment, Microtia, Facial palsy, Anosmia, C...	OMIM:147770
Ck Syndrome	Retrognathia, Hyperlordosis, Hyperactivity, High palate, Kyphosis, Micrognathia, Dental crowding,...	OMIM:300831
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Genu valgum, Sensorineural hearing impairment, Short femoral neck, Disharmonious carpal bone, Lon...	OMIM:608154
Three M Syndrome 2	Dental malocclusion, Hyperlordosis, Short thorax, High palate, Long philtrum, Short 5th finger, D...	OMIM:612921
Temtamy Preaxial Brachydactyly Syndrome	Talon cusp, Short metatarsal, Deep philtrum, Short metacarpal, Optic atrophy, Microdontia, Radiou...	OMIM:605282
Chung-Jansen Syndrome	Macrotia, High palate, Long philtrum, Micrognathia, Short philtrum, Short nose, Large earlobe, Jo...	OMIM:617991
Transaldolase Deficiency	Wide anterior fontanel, Poor suck, Wide mouth, Deep philtrum, Asthma, Short philtrum, Depressed n...	OMIM:606003
Ciliary Dyskinesia, Primary, 19	Rhinitis, Absent inner and outer dynein arms, Nasal polyposis, Recurrent sinusitis, Recurrent oti...	OMIM:614935
Smith-Kingsmore Syndrome	Wide anterior fontanel, Wide mouth, Long philtrum, Short nose, Thin upper lip vermilion, Depresse...	OMIM:616638
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal antihelix morphology, Mandibular prognathia, Conductive hearing impairment, Kyphosis, Ap...	ORPHA:3082
Mpdu1-Cdg	Wide anterior fontanel, Prominent frontal sinuses, Absence of acoustic reflex, Thin vermilion bor...	ORPHA:79323
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Wide anterior fontanel, Long philtrum, Micrognathia, Feeding difficulties in infancy, Thin upper ...	OMIM:618548
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh...	OMIM:141400
Turnpenny-Fry Syndrome	Conductive hearing impairment, Feeding difficulties in infancy, Chronic constipation, Prominent n...	OMIM:618371
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Conductive hearing impairment, Micrognathia, Elbow dislocation, Pectus e...	ORPHA:2462
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormality of the neck, Upper limb phocomelia, Syndactyly, Stillbirth, Cleft palate...	ORPHA:294975
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Arthrogryposis multiplex congenita, Low-set ears, Cleft palate	OMIM:616570
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Underdeveloped nasal alae, Abnormal oral cavity morphology, Wide nasal bridge, Micrognathia, Hydr...	ORPHA:1516
Fibrochondrogenesis	Camptodactyly of finger, Hearing abnormality, Respiratory insufficiency, Wide anterior fontanel, ...	ORPHA:2021
Ciliary Dyskinesia, Primary, 5	Chronic rhinitis, Nasal polyposis, Recurrent sinusitis, Recurrent otitis media	OMIM:608647
Distal Xq28 Microduplication Syndrome	High palate, Microtia, Short lingual frenulum, Thick lower lip vermilion, Absent antihelix, Hypop...	ORPHA:293939
Pai Syndrome	Encephalocele, Bifid uvula, Nasal polyposis, Abnormal oral frenulum morphology, Median cleft lip,...	ORPHA:1993
Donnai-Barrow Syndrome	Sensorineural hearing impairment, Wide anterior fontanel, Short nose, Intestinal malrotation, Dep...	OMIM:222448
Ciliary Dyskinesia, Primary, 22	Rhinitis, Absent inner and outer dynein arms, Nasal polyposis, Recurrent sinusitis, Recurrent oti...	OMIM:615444
Cutis Laxa, Autosomal Recessive, Type Ib	Convex nasal ridge, High palate, Micrognathia, Prominence of the premaxilla, Joint hypermobility,...	OMIM:614437
Saul-Wilson Syndrome	Irregular vertebral endplates, Sensorineural hearing impairment, Convex nasal ridge, Wide anterio...	OMIM:618150
Seckel Syndrome 1	11 pairs of ribs, Enamel hypoplasia, Dental malocclusion, Convex nasal ridge, High palate, Promin...	OMIM:210600
Cofs Syndrome	Camptodactyly of finger, Sensorineural hearing impairment, Wide nasal bridge, Death in infancy, A...	ORPHA:1466
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Macrotia, High palate, Micrognathia, Weakness of facial musculature, Scoliosis, Type 2 muscle fib...	OMIM:608930
Regional Odontodysplasia	Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta...	ORPHA:83450
Martsolf Syndrome 1	Finger joint hypermobility, Micrognathia, Pectus excavatum, Short palm, Posteriorly rotated ears,...	OMIM:212720
Perching Syndrome	High palate, Camptodactyly, Respiratory distress, Depressed nasal bridge, Scoliosis, Dysphagia, F...	OMIM:617055
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Bilateral conductive hearing impairment, Natal tooth, Volvulus, Micrognathia, Short nose, Depress...	OMIM:617802
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Abnormality of dental morpholo...	ORPHA:2025
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Underdeveloped nasal alae, Depressed nasal ridge, Wide nasal bridge, Deep philtrum, Kyphosis, Mic...	ORPHA:77300
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Malar flattening, Branchial anomaly	ORPHA:1296
Ramon Syndrome	Conductive hearing impairment, Narrow palate, Sensorineural hearing impairment, Delayed eruption ...	ORPHA:3019
Hartsfield Syndrome	Wide nose, Hypoplasia of the frontal bone, Agenesis of corpus callosum, Semilobar holoprosencepha...	OMIM:615465
Trisomy 13	Abnormal antihelix morphology, Sensorineural hearing impairment, Kyphosis, Abnormality of the mid...	ORPHA:3378
Cleft Velum	Conductive hearing impairment, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis ...	ORPHA:99772
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Convex nasal ridge, Flexion contracture, Patellar dislocation, Wi...	OMIM:180849
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Cleft upper lip, Single naris, Macrotia, Hypoplasia of ...	OMIM:610829
Cerebellar-Facial-Dental Syndrome	Dental malocclusion, Foot joint contracture, Long philtrum, Macrodontia of permanent maxillary ce...	ORPHA:444072
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t...	ORPHA:488232
Orofaciodigital Syndrome Type 2	Short tibia, Conductive hearing impairment, Bifid tongue, Wide nasal bridge, Micrognathia, Taurod...	ORPHA:2751
Desbuquois Dysplasia 1	Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg...	OMIM:251450
Microhydranencephaly	Hypoplasia of the brainstem, Macrotia, Cerebellar hypoplasia, Agenesis of corpus callosum, Hydran...	OMIM:605013
Adenylosuccinate Lyase Deficiency	Long philtrum, Prominent metopic ridge, Short nose, Thin upper lip vermilion, Anteverted nares, S...	ORPHA:46
Intellectual Developmental Disorder, Autosomal Dominant 26	Hyperactivity, Deep philtrum, Wide mouth, Wide nasal bridge, Micrognathia, Prominent nasal tip, K...	OMIM:615834
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ectopic anus, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Cleft palate	ORPHA:2476
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Retrognathia, Underdeveloped antitragus, Prominent nose, Cleft soft palate, Thickened helices, Pr...	ORPHA:293725
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Macrotia, Webbed neck, Abnormality of the elbow, Aplasia/Hypoplasia of the eyebrow, Sparse scalp ...	ORPHA:2701
Acrocallosal Syndrome	Sensorineural hearing impairment, Wide anterior fontanel	ORPHA:36
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	High palate, Long philtrum, Abnormal sacral segmentation, Micrognathia, Joint hypermobility, Thin...	ORPHA:480907
Acrocephalopolydactyly	Depressed nasal ridge, Microtia, Short nose, Premature closure of fontanelles, Genu recurvatum, P...	ORPHA:221054
Baller-Gerold Syndrome	Conductive hearing impairment, Micrognathia, Bifid uvula, Spina bifida occulta, Large fontanelles...	OMIM:218600
Split-Hand/Foot Malformation 4	Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the...	OMIM:605289
Cohen Syndrome	Optic atrophy, Micrognathia, Pectus excavatum, Tooth agenesis, Gingival overgrowth, Genu valgum, ...	ORPHA:193
Multiple Acyl-Coa Dehydrogenase Deficiency	Vomiting, Wide anterior fontanel, Respiratory distress, Depressed nasal bridge, Nausea, Abnormal ...	OMIM:231680
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Wide anterior fontanel, Wormian bones, Atresia of the external auditory canal	OMIM:601356
Aphalangy-Syndactyly-Microcephaly Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Toe syndactyly, Abnor...	ORPHA:1113
Pfeiffer Syndrome	Choanal stenosis, Mandibular prognathia, Short middle phalanx of toe, Finger syndactyly, Humerora...	OMIM:101600
14Q11.2 Microdeletion Syndrome	High palate, Long philtrum, Deep philtrum, Micrognathia, Short nose, Everted lower lip vermilion,...	ORPHA:261120
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Hyperactivity, Wide nasal bridge, Kyphosis, Joint contracture of the hand, Microgna...	ORPHA:352490
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Poor suck, Episodic tachypnea, Micrognathia, Hydrocephalus, Apneic episodes in infa...	ORPHA:163961
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o...	OMIM:601812
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Long philtrum, Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Abnormal pinna mor...	ORPHA:228396
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Macrotia, Wide mouth, Optic atrophy, Decreased motor nerve conduction velocity, Micrognathia, Sho...	OMIM:615419
Mesomelia-Synostoses Syndrome	Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of...	ORPHA:2496
Emanuel Syndrome	Multiple joint contractures, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, ...	ORPHA:96170
Fibular Hemimelia	Hip subluxation, Short tibia, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Ehlers-Danlos Syndrome, Classic Type, 1	Narrow maxilla, Joint dislocation, Hyperextensibility of the finger joints, Lop ear, Recurrent si...	OMIM:130000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Conical tooth, Cleft upper lip, Conductive hearing impairment, Wide nasal bridge, Widely spaced t...	OMIM:106260
Braddock-Carey Syndrome 1	Enamel hypoplasia, Hyperlordosis, Macrotia, Pierre-Robin sequence, Small hand, Wide nasal bridge,...	OMIM:619980
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Cleft palate, Hearing impairment, Genu valgum, Flexion contracture of ...	ORPHA:2712
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Delayed eruption of teeth, Epiphyseal stippling, Hypoplastic vertebral bodies, Dis...	OMIM:101800
Aredyld Syndrome	Mandibular prognathia, Abnormal tragus morphology, Abnormal nasal morphology, Advanced eruption o...	ORPHA:1133
Meier-Gorlin Syndrome 1	Flexion contracture, Micrognathia, Microdontia, Osteochondritis dissecans, Camptodactyly, Elbow d...	OMIM:224690
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Long philtrum, Microtia, Micrognathia, Vertebral segmentation de...	ORPHA:1988
Split hand/foot malformation 1 (SHFM1)	2-3 toe syndactyly, Sensorineural hearing impairment, Cutaneous finger syndactyly, Toe syndactyly...	DECIPHER:46
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab...	ORPHA:1892
Mend Syndrome	Hyperactivity, High palate, Wide anterior fontanel, Kyphosis, Abnormal nasal bridge morphology, A...	ORPHA:401973
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Long philtrum, Microtia, Micrognathia, Hydrocephalus, Radioulnar synostosis, Short nose, Short co...	ORPHA:171839
Robinow Syndrome, Autosomal Dominant 1	Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Short lingual frenulum, Micrognathia,...	OMIM:180700
Deafness, Conductive, With Malformed External Ear	Low-set ears, Conductive hearing impairment, Abnormal pinna morphology, Abnormality of the middle...	OMIM:221300
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Pulmonary arterial hypertension, Wide anterior fontanel, Death in infancy, Lethargy, Death in chi...	OMIM:619064
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Atresia of the external auditory canal, Conductive hearing impairment, High palate, Rhizomelia, M...	OMIM:602471
Greenberg Dysplasia	Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Micrognathia, Tetraphocomelia...	OMIM:215140
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Broad nasal tip, Short distal phalanx of finger, Abnormali...	ORPHA:2776
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Delayed cranial suture closure, Flexion contracture, Wide nasal bridge, Inability to walk, Chroni...	OMIM:619383
Lipoid Proteinosis	High palate, Tongue nodules, Thick lower lip vermilion, Nasal polyposis, Abnormal oral mucosa mor...	ORPHA:530
Sulfite Oxidase Deficiency, Isolated	Macrotia, Death in infancy, Agitation, Delayed eruption of teeth	OMIM:272300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Convex nasal ridge, Kyphosis, Micrognathia, Abnormality of dental morphology, Mala...	ORPHA:2522
Andersen-Tawil Syndrome	High palate, Small hand, Wide nasal bridge, Micrognathia, Oligodontia, Joint laxity, Hypoplasia o...	ORPHA:37553
Van Den Ende-Gupta Syndrome	Convex nasal ridge, Micrognathia, Elbow flexion contracture, Pectus excavatum, Everted lower lip ...	OMIM:600920
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Cleft soft palate, Wide nasal bridge, Micrognathia, Camptodactyly, Short nose, Abs...	OMIM:618529
Coffin-Siris Syndrome 6	Retrognathia, Conductive hearing impairment, Deep philtrum, Diaphragmatic eventration, Micrognath...	OMIM:617808
Branchiootorenal Syndrome 1	Conductive hearing impairment, Sensorineural hearing impairment, High palate, Incomplete partitio...	OMIM:113650
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Split hand, Microcephaly, Cerebral atrophy, Low-set ears, Neonatal death	OMIM:610127
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Atelosteogenesis, Type I	Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Elbow dislocation, Laryngeal stenosis, S...	OMIM:108720
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Retrognathia, Knee flexion contracture, Distal arthrogryposis, Flexion contracture, High palate, ...	OMIM:617468
Otofaciocervical Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, High palate, Macrotia, Down-sloping...	ORPHA:2792
Mucopolysaccharidosis, Type Vi	Hypoplastic acetabulae, Delayed eruption of teeth, Flared iliac wing, Anterior wedging of L2, Hir...	OMIM:253200
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Knee flexion contracture, Macrotia, Widely spaced teeth, Micrognathia, Microdontia, Ca...	OMIM:619694
Iniencephaly	Hyperlordosis, Spinal dysraphism, Encephalocele, Myelomeningocele, Mandibular aplasia, Spina bifi...	ORPHA:63259
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Feeding difficulties, Wide anterior fontanel, Death in infancy	OMIM:618240
Holoprosencephaly-Postaxial Polydactyly Syndrome	Absent nares, Encephalocele, Hypoplasia of the premaxilla, Micrognathia, Hydrocephalus, Anal atre...	ORPHA:2166
6Q16 Microdeletion Syndrome	Retrognathia, Microtia, Micrognathia, Abnormal thorax morphology, Depressed nasal bridge, Abnorma...	ORPHA:171829
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdontia, Peg-shap...	OMIM:610706
Oculoauriculofrontonasal Syndrome	Underdeveloped nasal alae, Wide nose, Conductive hearing impairment, Encephalocele, Microtia, Mic...	ORPHA:398156
Diaphanospondylodysostosis	Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Depressed nasal ridg...	OMIM:608022
Multiple Synostoses Syndrome 1	2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing...	OMIM:186500
Odontochondrodysplasia	Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth, Death in infancy, Micromelia,...	ORPHA:166272
Synpolydactyly 1	Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl...	OMIM:186000
Odontochondrodysplasia 1	Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Genu recurvatum, Dentinoge...	OMIM:184260
Vitamin D-Dependent Rickets, Type 2A	Enamel hypoplasia, Thin bony cortex, Delayed epiphyseal ossification, Recurrent fractures, Wide n...	OMIM:277440
Craniosynostosis 3	Left unicoronal synostosis, Dental malocclusion, Sagittal craniosynostosis, Hallux valgus, Brachy...	OMIM:615314
Restrictive Dermopathy 1	Convex nasal ridge, Flexion contracture, Micrognathia, Ankylosis, Large fontanelles, Choanal atre...	OMIM:275210
Auriculocondylar Syndrome	Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Feeding difficulties, Glossoptosis, H...	ORPHA:137888
Achondrogenesis Type 1A	Recurrent fractures, Abnormal enchondral ossification, Long philtrum, Micrognathia, Abdominal dis...	ORPHA:93299
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the dist...	ORPHA:3472
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Coarse metaphy...	ORPHA:2635
Dysostosis, Stanescu Type	Hyperlordosis, Convex nasal ridge, Kyphosis, Massively thickened long bone cortices, Abnormal nas...	ORPHA:1798
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Aicardi Syndrome	Bifid ribs, Cleft upper lip, Optic atrophy, Block vertebrae, Spina bifida, Supernumerary ribs, Mi...	OMIM:304050
Fontaine Progeroid Syndrome	Respiratory insufficiency, Conductive hearing impairment, Convex nasal ridge, Pneumothorax, Recur...	OMIM:612289
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Feeding difficulties, Wide anterior fontanel, Depressed nasal bridge	OMIM:617241
Growth Hormone Insensitivity Syndrome	Everted lower lip vermilion, Hearing impairment, Delayed eruption of teeth	ORPHA:181393
Hall-Riggs Mental Retardation Syndrome	Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi...	OMIM:234250
Ogden Syndrome	Delayed cranial suture closure, Thick upper lip vermilion, Diarrhea, Wide nasal bridge, Everted u...	OMIM:300855
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Biconcave vertebral bodies, Recurrent fractures, Rhizomelia, Vertebral...	OMIM:301014
Alpha-Mannosidosis	Dental malocclusion, Mandibular prognathia, Narrow palate, Macrotia, Kyphosis, Widely spaced teet...	ORPHA:61
Fryns Syndrome	Broad neck, Wide nasal bridge, Camptodactyly, Short neck, Hypoplasia of the optic tract, Cleft pa...	OMIM:229850
Chromosome 6Q11-Q14 Deletion Syndrome	High palate, Long philtrum, Micrognathia, Joint laxity, Short nose, Thin upper lip vermilion, Bro...	OMIM:613544
Meckel Syndrome, Type 2	Meningocele, Polydactyly, Encephalocele, Anencephaly, Dandy-Walker malformation, Intestinal malro...	OMIM:603194
Brachydactyly-Preaxial Hallux Varus Syndrome	Preaxial hand polydactyly, Radial club hand, Short metacarpal, Wide nasal bridge, Micrognathia, S...	ORPHA:1278
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Wide nasal b...	OMIM:618067
Meckel Syndrome, Type 1	Camptodactyly of finger, Micrognathia, Short neck, Radial deviation of finger, Postaxial hand pol...	OMIM:249000
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sagittal craniosynostosis, Natal tooth, Death in infancy, Micrognathia, Depressed nasal bridge, L...	OMIM:616901
Gapo Syndrome	Umbilical hernia, Mandibular prognathia, Long philtrum, Optic atrophy, Delayed eruption of teeth,...	ORPHA:2067
3M Syndrome	Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Scapula...	ORPHA:2616
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Low-set ears, Cupped ear	OMIM:167730
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Micrognathia, Microcephaly, Brachydactyly, Low-set ears, Short middle phalanx ...	OMIM:612626
Robin Sequence With Cleft Mandible And Limb Anomalies	Cleft mandible, Hip subluxation, Short tibia, Short 5th finger, Micrognathia, Cleft lower alveola...	OMIM:268305
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Thick corpus callosum, Hydrocephalus, Syndactyly, Megalencephaly, Postaxial hand polydactyly, Pol...	OMIM:615938
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Ectopic anus, Toe syndactyly, Micrognat...	ORPHA:1507
Mucopolysaccharidosis Type 3	Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ...	ORPHA:581
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Hypoplasia of the frontal bone, Conductive he...	ORPHA:306542
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Abnormal mandible morphology, Prominence of the zygomatic bone, Conducti...	ORPHA:2215
Cleft Palate-Large Ears-Small Head Syndrome	Macrotia, Micrognathia, Pectus excavatum, Skeletal muscle atrophy, Short distal phalanx of finger...	ORPHA:2013
Fetal Akinesia Deformation Sequence 2	Flexion contracture, High palate, Wide nasal bridge, Micrognathia, Tented upper lip vermilion, Lo...	OMIM:618388
Brachydactyly, Type A1	Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar...	OMIM:112500
Muenke Syndrome	Dental malocclusion, Short middle phalanx of toe, Sensorineural hearing impairment, High palate, ...	OMIM:602849
Holoprosencephaly	Abnormal antihelix morphology, Spinal dysraphism, Synophrys, Holoprosencephaly, Short neck, Depre...	ORPHA:2162
Craniotelencephalic Dysplasia	Cerebellar hypoplasia, Craniosynostosis, Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, L...	ORPHA:1528
Mullegama-Klein-Martinez Syndrome	Prominent nose, Long philtrum, Wide nasal bridge, Microtia, Sensorineural hearing impairment, Mic...	OMIM:301022
Microphthalmia, Syndromic 8	Cleft palate, Split foot, Mandibular prognathia, Microcephaly	OMIM:601349
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cort...	ORPHA:168486
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Cerebral cortical atrophy, Coxa valga, Micrognathia, Flared iliac wing, Hip disl...	OMIM:252500
Triphalangeal Thumbs With Brachyectrodactyly	Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger	OMIM:190680
Crossed Polysyndactyly	Hearing abnormality, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormality of the outer...	ORPHA:2935
Fetal Minoxidil Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Depressed nasal bridge, Umbilical hernia	ORPHA:1918
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Sensorineural hearing impairment, Delayed eruption of teeth, Taurodontia, Short philtrum, High, n...

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