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 6
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Dlx6 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 Dlx6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Split Hand-Split Foot Malformation
Finger syndactyly, Sensorineural hearing impairment, Oligodactyly, Absent hand, Split hand ORPHA:2440

The table below shows human diseases predicted to be associated to Dlx6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the outer ear, Congenital conductive hearing impairment, Conductive hearing impair... OMIM:128980
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Brachydactyly, Narrow nasal ridge, Single transverse palmar crease, 2-3 toe syndactyly, Short nec... OMIM:236500
Charlie M Syndrome
Brachydactyly, Narrow mouth, Short philtrum, Thin vermilion border, Finger syndactyly, Non-midlin... ORPHA:1406
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Abnormality of the ear, Micrognathia, Malar flattening, Cleft palate, Split hand,... OMIM:183700
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Hearing abnormality, Abnormal palate morphology, Depressed nasal ridge, Deviation o... ORPHA:2412
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of ... ORPHA:1908
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Short neck, Abnormality of the diencephalon, Low-set ears, Aplasia/Hypoplasia of the corpus callo... ORPHA:2570
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Agenesis of corpus callosum, Anencephaly, Micrognathia, Postaxial han... OMIM:614120
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Tapered finger, Short thumb, Tented upper lip vermilion, Micrognathia, Mic... OMIM:619148
Malan Syndrome
Narrow mouth, Hypoplasia of the corpus callosum, Coxa valga, Everted lower lip vermilion, Hyperpl... OMIM:614753
Frontonasal Dysplasia 1
Widow's peak, Clinodactyly, Broad nasal tip, Anterior basal encephalocele, Bifid nose, Brachydact... OMIM:136760
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Micrognathia, Microcephaly, Abnormality of the humerus, Cleft palate, ... ORPHA:3098
Eem Syndrome
Finger syndactyly, Carious teeth, Widely spaced teeth, Sparse body hair, Microdontia, Absent eyeb... ORPHA:1897
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Low-set ears, Anencephaly, Unilateral cleft lip, Microg... ORPHA:2189
Craniosynostosis, Herrmann-Opitz Type
Brachydactyly, Webbed neck, Craniosynostosis, Finger syndactyly, Convex nasal ridge, Microtia, Mi... ORPHA:2145
Cousin Syndrome
Microtia, first degree, Clinodactyly of the 5th finger, Micrognathia, Hypoplastic iliac wing, Cle... OMIM:260660
Brachydactyly, Type C
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... OMIM:113100
Czeizel-Losonci Syndrome
Micrognathia, Spina bifida, 2-3 finger syndactyly, High palate, Single transverse palmar crease, ... ORPHA:2437
Marshall-Smith Syndrome
Brittle hair, Cerebellar hypoplasia, Clinodactyly of the 5th finger, Thick eyebrow, Microdontia, ... OMIM:602535
Pelvis-Shoulder Dysplasia
Micrognathia, Spina bifida, Cleft palate, Hypoplastic pubic bone, Aplasia/Hypoplasia of the fibul... ORPHA:2839
Mmep Syndrome
Triphalangeal thumb, Microcephaly, Mandibular prognathia, Oral cleft, Split foot, Median cleft lip ORPHA:3434
Acrorenal Syndrome
Abnormality of the ulna, Micrognathia, Abnormality of tibia morphology, Split hand, Cleft palate,... ORPHA:971
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Long philtrum, Hypoplasia of the premaxilla, Fibular hypoplasia, Sanda... ORPHA:1106
49,Xxxxy Syndrome
Open bite, Clinodactyly of the 5th finger, Scoliosis, Mandibular prognathia, Cleft palate, Hip di... ORPHA:96264
17Q21.31 Microduplication Syndrome
Generalized hirsutism, Toe syndactyly, High palate, Short philtrum, Abnormality of the outer ear,... ORPHA:217340
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Vertebral clefting, Long philtrum, Clinodactyly of the 5th finger, Thick eyebrow, Highly arched e... OMIM:614701
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Nail dystrophy, Hypoplasia of the maxilla, Microretrognathia, Camptoda... OMIM:246560
Opitz-Kaveggia Syndrome
Clinodactyly, Microtia, first degree, Long philtrum, Joint contracture of the hand, Fine hair, Mi... OMIM:305450
Moebius Syndrome
Brachydactyly, Clinodactyly, High palate, Abnormality of pelvic girdle bone morphology, Short nec... OMIM:157900
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Short 5th metacarpal, Multiple small vertebral fractures, Convex nasal ridge, Pla... OMIM:156510
Zaki Syndrome
Toe syndactyly, High palate, Short philtrum, Hypoplasia of the corpus callosum, Cupped ear, Spars... OMIM:619648
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Broad nasal tip, Long philtrum, Open mouth, Prominence of the premaxilla, Eve... OMIM:137550
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Brachydactyly, Abnormal palate morphology, Convex nasal ridge, Micrognathia, Tooth agenesis, Meso... ORPHA:1277
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, High palate, Bulbous nose, Enamel hypoplasia, Low-set ears, Sandal gap, Wide nasal... OMIM:600991
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Fusion of gums, Abnormal mandible morphology, Irregular dentition, Diastema, Abn... ORPHA:401942
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Abnormality of dental eruption, Highly arched eyebrow, Microcephaly, Spina bifida, Hal... ORPHA:1327
Acrofacial Dysostosis, Rodríguez Type
Abnormality of pelvic girdle bone morphology, Finger syndactyly, Hand oligodactyly, Abnormal form... ORPHA:1788
Jackson-Weiss Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Abnormal palate morphology, 2-... ORPHA:1540
Pycnodysostosis
Brachydactyly, Narrow palate, Wormian bones, Abnormality of pelvic girdle bone morphology, Osteol... OMIM:265800
Maxillonasal Dysplasia
Vertebral clefting, Depressed nasal ridge, Open bite, Aplasia/Hypoplasia of the distal phalanges ... ORPHA:1248
Rubinstein-Taybi Syndrome 2
High palate, Narrow palate, Long eyelashes, Intestinal malrotation, Carious teeth, Convex nasal r... OMIM:613684
Skraban-Deardorff Syndrome
Recurrent otitis media, Sparse lateral eyebrow, Widely spaced teeth, Thick upper lip vermilion, M... OMIM:617616
Aarskog-Scott Syndrome
Long philtrum, Clinodactyly of the 5th finger, Broad palm, Everted lower lip vermilion, Small han... ORPHA:915
Brachydactyly, Type B1
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... OMIM:113000
Temtamy Preaxial Brachydactyly Syndrome
Partial duplication of the proximal phalanx of the 3rd finger, Severe sensorineural hearing impai... ORPHA:363417
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Recurrent otitis media, Short femora... OMIM:100800
Robinow Syndrome, Autosomal Dominant 2
Clinodactyly, Long philtrum, Micrognathia, Thin upper lip vermilion, Short nose, Triangular mouth... OMIM:616331
Mohr Syndrome
Broad nasal tip, Clinodactyly of the 5th finger, Agenesis of central incisor, Micrognathia, Scoli... OMIM:252100
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Micrognathia OMIM:601348
2Q31.1 Microdeletion Syndrome
Abnormality of the ulna, Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Tapered finge... ORPHA:251014
Short Stature-Wormian Bones-Dextrocardia Syndrome
Brachydactyly, High palate, Broad alveolar ridges, Wormian bones, Delayed eruption of teeth, Low-... ORPHA:2863
Deafness-Ear Malformation-Facial Palsy Syndrome
Hypoplasia of the antihelix, Conductive hearing impairment, External ear malformation, Aplasia/Hy... ORPHA:3232
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Intellectual Developmental Disorder, Autosomal Recessive 69
Cerebellar hypoplasia, Microcephaly, Hyperplasia of the maxilla, Drooling OMIM:618383
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Micrognathia, Protrusio acetabul... OMIM:259600
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Low-set ears, Abnormality of the middle ear ossicles OMIM:221300
Short-Rib Thoracic Dysplasia 12
Broad palm, Hamartoma of tongue, Short toe, Median cleft lip and palate, Brachydactyly, Bowing of... OMIM:269860
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Brachydactyly, Short philtrum, Hypoplasia of the corpus callosum, Low-set ears, Long eyelashes, C... OMIM:618381
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, High palate, Thoracic scoliosis, Low-set ears, Oligodontia, Syndacty... OMIM:600325
11Q22.2Q22.3 Microdeletion Syndrome
Brachydactyly, Drooling, Low-set ears, Clinodactyly of the 5th finger, Thick eyebrow, Micrognathi... ORPHA:444002
Osteolysis Syndrome, Recessive
Broad nasal tip, Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of th... OMIM:259610
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Depressed nasal ridge, Sensorineural hearing impairment, Aplasia/Hypoplasia involvi... ORPHA:1529
Distal Limb Deficiencies-Micrognathia Syndrome
Narrow mouth, High palate, Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Conductive h... ORPHA:1307
Split-Hand/Foot Malformation 1
Clinodactyly, Hand oligodactyly, Triphalangeal thumb, Broad hallux, Ectrodactyly, Foot oligodacty... OMIM:183600
Phenobarbital Embryopathy
Brachydactyly, Low-set ears, Unilateral cleft lip, Aplasia/Hypoplasia of fingers, Abnormal nasal ... ORPHA:1919
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Acrodysostosis
Abnormality of the ulna, Open bite, Cone-shaped epiphysis, Micromelia, Short toe, Mandibular prog... ORPHA:950
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Scoliosis,... OMIM:170390
Cornelia De Lange Syndrome 2
Clinodactyly, Thick eyebrow, Micrognathia, Highly arched eyebrow, Microcephaly, Small hand, Thin ... OMIM:300590
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Single transverse palmar crease, Finger syndactyly, Sensorineural hearing impairm... ORPHA:435938
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Clinodactyly, Patchy alopecia, High palate, Short palm, Tapered finger, Hypoplasia of the maxilla... ORPHA:85279
Intellectual Developmental Disorder, Autosomal Recessive 74
Brachydactyly, Wide nasal bridge, Mandibular prognathia, Narrow palate, Prominent nose OMIM:617169
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Brachydactyly, Webbed neck, Abnormal palate morphology, Thin vermilion border, Hearing impairment... ORPHA:2701
Anauxetic Dysplasia 3
Brachydactyly, Broad middle phalanx of finger, Trident hand, Thoracolumbar kyphoscoliosis, Short ... OMIM:618853
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Brachydactyly, Abnormal palate morphology, Abnormal form of the vertebral bodies, Conductive hear... ORPHA:93262
Trisomy 18
Abnormal hip bone morphology, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Spina bifi... ORPHA:3380
Chondrodysplasia With Joint Dislocations, Gpapp Type
Brachydactyly, Narrow mouth, Coronal craniosynostosis, Short metacarpal, Hearing impairment, Wide... OMIM:614078
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Abnormal thumb morphology, Cone-shaped epiphysis, Microcephaly, Scoliosis, Mandibular prognathia,... ORPHA:2511
Frank-Ter Haar Syndrome
Brachydactyly, Short philtrum, Protruding ear, Kyphosis, Delayed eruption of teeth, Clinodactyly ... ORPHA:137834
3Mc Syndrome 2
Craniosynostosis, Cleft upper lip, Hearing impairment, Caudal appendage, Prominence of the premax... OMIM:265050
Mesomelia-Synostoses Syndrome
Long philtrum, Clinodactyly of the 5th finger, Micrognathia, High, narrow palate, Micromelia, Abn... ORPHA:2496
Lujan-Fryns Syndrome
Brachydactyly, High palate, Short philtrum, Low-set ears, Abnormality of the dentition, Aplasia/H... ORPHA:776
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Hartsfield Syndrome
Gonadotropin deficiency, Craniosynostosis, Cleft upper lip, Agenesis of corpus callosum, Low-set ... OMIM:615465
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Brachydactyly, High palate, Abnormal form of the vertebral bodies, Bulbous nose, Low-set ears, Sa... ORPHA:2180
Monosomy 5P
High palate, Short neck, Finger syndactyly, Wide nasal bridge, Microcephaly, Low-set, posteriorly... ORPHA:281
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy
External ear malformation, Conductive hearing impairment, Abnormality of the stapes OMIM:124490
Carpenter Syndrome 1
Genu varum, Joint contracture of the hand, Aplasia/Hypoplasia of the corpus callosum, Clinodactyl... OMIM:201000
8Q22.1 Microdeletion Syndrome
Long philtrum, Sandal gap, Highly arched eyebrow, Microcephaly, Short neck, Underfolded helix, Ab... ORPHA:178303
Cerebrocostomandibular Syndrome
Cerebral calcification, Webbed neck, Myelomeningocele, Kyphosis, Clinodactyly of the 5th finger, ... ORPHA:1393
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Kyphosis, Short greater sciatic notch, Femoral bowing, P... ORPHA:1860
Orofaciodigital Syndrome Vi
Clinodactyly, Broad nasal tip, Hypothalamic hamartoma, Micrognathia, Cleft palate, Cerebellar ver... OMIM:277170
Branchiogenic-Deafness Syndrome
Branchial cyst, Trismus, Sensorineural hearing impairment, Atresia of the external auditory canal... OMIM:609166
Spinocerebellar Ataxia, Autosomal Recessive 20
Brachydactyly, Clinodactyly, High palate, Anteverted nares, Delayed eruption of teeth, Long philt... OMIM:616354
Premature Aging Syndrome, Penttinen Type
Brachydactyly, Wormian bones, Delayed eruption of teeth, Sensorineural hearing impairment, Narrow... OMIM:601812
Pfeiffer Syndrome
Hydrocephalus, High palate, Finger syndactyly, Shortening of all middle phalanges of the fingers,... OMIM:101600
Pde4D Haploinsufficiency Syndrome
Long philtrum, Cone-shaped epiphysis, Micrognathia, Short toe, Mandibular prognathia, Thin upper ... ORPHA:439822
Desbuquois Dysplasia 1
Genu varum, Long philtrum, Broad first metatarsal, Sandal gap, Broad femoral neck, Scoliosis, Sho... OMIM:251450
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, Sparse eyebrow, Microdontia, Widely spaced teeth, Selective tooth ... OMIM:225280
Brachydactyly-Preaxial Hallux Varus Syndrome
Brachydactyly, Abnormal palate morphology, Radial club hand, Short metacarpal, Thick eyebrow, Wid... ORPHA:1278
Van Maldergem Syndrome 1
Clinodactyly, Atresia of the external auditory canal, Tented upper lip vermilion, Micrognathia, S... OMIM:601390
Symphalangism With Multiple Anomalies Of Hands And Feet
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... ORPHA:3246
Hartsfield Syndrome
Craniosynostosis, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Lobar holopro... ORPHA:2117
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Wide nasal bridge, Microtia, Hypoplasia of the maxilla, Depressed na... ORPHA:261295
Multiple Synostoses Syndrome 1
Carpal synostosis, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Asymmetry of the mo... OMIM:186500
Silver-Russell Syndrome Due To A Point Mutation
Low-set ears, Clinodactyly of the 5th finger, Short 5th finger, Micrognathia, Polydactyly, Ectrod... ORPHA:397590
Distal Monosomy 13Q
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the... ORPHA:1590
Schinzel-Giedion Syndrome
Abnormality of the outer ear, Broad nasal tip, Micrognathia, Macroglossia, Abnormality of the sta... ORPHA:798
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Microcephaly, Hypoplastic iliac wing,... OMIM:609945
Autosomal Recessive Robinow Syndrome
Abnormal hip bone morphology, Long philtrum, Open bite, Sandal gap, Clinodactyly of the 5th finge... ORPHA:1507
Nablus Mask-Like Facial Syndrome
Clinodactyly, Long philtrum, Tapered finger, Highly arched eyebrow, Retrognathia, Thin upper lip ... OMIM:608156
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Microphthalmia, Syndromic 8
Cleft upper lip, Widely-spaced maxillary central incisors, Microcephaly, Mandibular prognathia, C... OMIM:601349
Trichorhinophalangeal Syndrome, Type Iii
Long philtrum, Underdeveloped nasal alae, Pear-shaped nose, Scoliosis, Protruding ear, Thin upper... OMIM:190351
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the corpus callosum, Low-set ears, Cone-shaped epiphyses of the phal... OMIM:617102
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Micrognathia, Scoliosis, Hypoplasia of the zygomatic bone, Hemi... ORPHA:958
Alopecia-Intellectual Disability Syndrome
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair, Microcepha... ORPHA:2850
Phocomelia, Schinzel Type
Micrognathia, High, narrow palate, Micromelia, Aplasia of the ulna, Protruding ear, Cleft palate,... ORPHA:2879
Iniencephaly
Dandy-Walker malformation, Lissencephaly, Spina bifida, Encephalocele, Narrow mouth, Anencephaly,... ORPHA:63259
Meckel Syndrome, Type 1
Clinodactyly, Foot polydactyly, Cerebellar hypoplasia, Micrognathia, Microcephaly, Dandy-Walker m... OMIM:249000
Van Maldergem Syndrome 2
Clinodactyly, Atresia of the external auditory canal, Tented upper lip vermilion, Micrognathia, S... OMIM:615546
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Enamel hypoplasia, U-Shaped upper lip vermilion, Thick lower lip vermili... OMIM:234250
Deafness, X-Linked 2
Conductive hearing impairment, Progressive sensorineural hearing impairment, Congenital sensorine... OMIM:304400
Coffin-Lowry Syndrome
Narrow iliac wing, Aplasia/Hypoplasia of the corpus callosum, Tapered finger, Everted lower lip v... ORPHA:192
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, 2-3 toe syndactyly, Agenesis of corpus callosum, Tapered finger, Wide nasal bridge, ... OMIM:218000
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... OMIM:146000
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Underdeveloped nasal alae, Hydranencephaly, Microcephaly, Short distal phalanx of fi... OMIM:601355
Trisomy 13
Abnormality of pelvic girdle bone morphology, Kyphosis, Cystic hygroma, Long philtrum, Low-set ea... ORPHA:3378
Keipert Syndrome
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Short hal... ORPHA:2662
Craniosynostosis 3
Brachydactyly, Single transverse palmar crease, Right unicoronal synostosis, Left unicoronal syno... OMIM:615314
Crossed Polysyndactyly
Abnormality of the outer ear, Hearing abnormality, Finger syndactyly, Aplasia/Hypoplasia of the t... ORPHA:2935
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Non-midline cleft lip, Anencephaly, Spina bifida, Cleft palate, Aplasia/Hypoplasia ... ORPHA:2476
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Abnormality of the outer ear, Large earlobe, Absent tragus, Underdevelop... ORPHA:79113
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, 2-3 toe syndactyly, Sensorineural hearing impairment, Cleft palate, Cutaneous fin... DECIPHER:46
Deafness, Progressive, With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment OMIM:601449
Progressive Deafness With Stapes Fixation
Stapes ankylosis, Bilateral conductive hearing impairment ORPHA:3235
Hypoglossia-Hypodactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the tongue, Narrow mouth, High palate, Finger syndactyly, Hy... ORPHA:989
Dysostosis, Stanescu Type
Macroglossia, Micromelia, Microcephaly, Scoliosis, Massively thickened long bone cortices, Hypopl... ORPHA:1798
Craniosynostosis And Dental Anomalies
Clinodactyly, Lambdoidal craniosynostosis, Craniosynostosis, 2-3 toe syndactyly, Delayed eruption... OMIM:614188
Aicardi Syndrome
Block vertebrae, Microcephaly, Dandy-Walker malformation, Spina bifida, Scoliosis, Dilation of la... OMIM:304050
Trichorhinophalangeal Syndrome Type 2
Long philtrum, Thick eyebrow, Microcephaly, Protruding ear, Thin upper lip vermilion, Genu valgum... ORPHA:502
Split-Hand/Foot Malformation 4
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Ectrodactyly, Aplasia/Hyp... OMIM:605289
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Brachydactyly, Abnormal palate morphology, Clinodactyly of the 5th finger, Abnormality of the nos... ORPHA:1390
Yunis-Varon Syndrome
Abnormal pelvis bone morphology, Cerebellar hypoplasia, Abnormality of dental structure, Tapered ... ORPHA:3472
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Micrognathia, Microcephaly, ... OMIM:225790
Cranioectodermal Dysplasia
Brachydactyly, Craniosynostosis, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, H... ORPHA:1515
Temtamy Syndrome
Brachydactyly, Genu varum, Abnormal palate morphology, Low-set ears, Aplasia/Hypoplasia of the co... ORPHA:1777
Aphalangy-Syndactyly-Microcephaly Syndrome
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Postaxial foot polydactyly, Ap... ORPHA:1113
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Rounded epiphyses, Short lo... OMIM:611702
Cohen Syndrome
Cerebellar hypoplasia, Thick eyebrow, Tapered finger, Micrognathia, High, narrow palate, Microcep... OMIM:216550
Monosomy 18P
Brachydactyly, Webbed neck, Short philtrum, Protruding ear, Short neck, Hypodontia, Carious teeth... ORPHA:1598
Microcephaly-Capillary Malformation Syndrome
Brachydactyly, Clinodactyly, Cerebral atrophy, Wide nose, Progressive microcephaly, Low-set ears,... OMIM:614261
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Broad nasal tip, Fibular hypoplasia, Dislocated radial head, ... ORPHA:166016
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Long philtrum, Microme... OMIM:184260
Robinow Syndrome, Autosomal Recessive 1
Clinodactyly, Long philtrum, Bifid distal phalanx of toe, Micrognathia, Macroglossia, Scoliosis, ... OMIM:268310
Sweeney-Cox Syndrome
Widow's peak, Underdeveloped nasal alae, Cerebellar hypoplasia, Micrognathia, Cleft palate, Narro... OMIM:617746
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Cleft palate, Postaxial polydactyly OMIM:614175
Ectrodactyly-Polydactyly Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... ORPHA:1892
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Hypoplasia of the maxilla, Ulnar deviation of the hand or of fi... OMIM:122880
Orofaciodigital Syndrome Type 4
Abnormality of the outer ear, Genu varum, Bifid uvula, Abnormality of the tongue, Micrognathia, H... ORPHA:2753
Intellectual Developmental Disorder, Autosomal Recessive 68
Hydrocephalus, Wide nasal bridge, Broad eyebrow, Hypoplasia of the maxilla, Microcephaly, Synophr... OMIM:618302
Synpolydactyly 1
Short middle phalanx of the 5th finger, 4-5 toe syndactyly, 6 metacarpals, Postaxial foot polydac... OMIM:186000
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Long philtrum, Underdeveloped nasal alae, Narrow nose, Fine hair, Micrognathia, Small ... OMIM:257850
Hall-Riggs Syndrome
Brachydactyly, Delayed eruption of teeth, Abnormality of epiphysis morphology, Coarse hair, Wide ... ORPHA:2107
Odontotrichoungual-Digital-Palmar Syndrome
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... OMIM:601957
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Brachydactyly, Clinodactyly, High palate, Bulbous nose, Low-set ears, Hearing impairment, Open mo... OMIM:613604
Robinow Syndrome, Autosomal Recessive 2
Brachydactyly, Clinodactyly, Broad nasal tip, Absent uvula, Long philtrum, Gingival overgrowth, L... OMIM:618529
Cleidocranial Dysplasia
Abnormal thumb morphology, Open bite, Clinodactyly of the 5th finger, Tapered finger, Micrognathi... ORPHA:1452
Liebenberg Syndrome
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... OMIM:186550
Doors Syndrome
Abnormality of toe, Broad nasal tip, Long philtrum, Clinodactyly of the 5th finger, Widely spaced... ORPHA:79500
Multiple Epiphyseal Dysplasia With Robin Phenotype
Broad nasal tip, Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Cleft palate, Brachyda... OMIM:601560
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Brachydactyly, Aplasia/Hypoplasia of the frontal sinuses, Widow's peak, Agenesis of corpus callos... ORPHA:306542
Frontorhiny
Brachydactyly, Widow's peak, Congenital conductive hearing impairment, Hypoplastic frontal sinuse... ORPHA:391474
Muenke Syndrome
Brachydactyly, Clinodactyly, Dental malocclusion, High palate, Thimble-shaped middle phalanges of... OMIM:602849
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Scoliosis, Mandi... ORPHA:1858
Camptodactyly Syndrome, Guadalajara, Type Ii
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Short neck, Long philtrum, L... OMIM:211920
Okur-Chung Neurodevelopmental Syndrome
Brachydactyly, Clinodactyly, High palate, Low-set ears, Wide nasal bridge, Micrognathia, Highly a... OMIM:617062
Otospondylomegaepiphyseal Dysplasia
Coronal cleft vertebrae, Abnormal pelvis bone morphology, Bifid uvula, Sandal gap, Flared femoral... ORPHA:1427
Acrofacial Dysostosis, Catania Type
Brachydactyly, Webbed neck, Abnormal palate morphology, Finger syndactyly, Short palm, Coarse hai... ORPHA:1786
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip, Abnormality of the de... ORPHA:2776
Brachydactyly, Type A1
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... OMIM:112500
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Cleft palate, Abnormality of th... ORPHA:294975
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Thick eyebrow, Abnormality of the philtrum, Ra... ORPHA:3268
Chromosome 15Q26-Qter Deletion Syndrome
Brachydactyly, Low-set ears, Wide nasal bridge, Micrognathia, Microcephaly, Short middle phalanx ... OMIM:612626
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Cone-shaped epiphysis, Tapered finger, Exaggerated cupid's bow, Micrognathia, Scol... OMIM:618659
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Brachydactyly, Broad nasal tip, High palate, Thin vermilion border, Short neck, Long philtrum, Sh... OMIM:617157
Fibular Hemimelia
Fibular hypoplasia, Limited knee flexion/extension, Spina bifida, Abnormal morphology of ulna, Sh... ORPHA:93323
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Deviation of finger, Depressed nasal ridge,... ORPHA:2831
Aarskog-Scott Syndrome
Widow's peak, Clinodactyly, Elevated circulating luteinizing hormone level, Broad palm, Scoliosis... OMIM:305400
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the 2nd toe, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Coffin-Siris Syndrome 6
Brachydactyly, Clinodactyly, Broad nasal tip, Short philtrum, Wormian bones, Conductive hearing i... OMIM:617808
Triphalangeal Thumbs With Brachyectrodactyly
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot OMIM:190680
Stickler Syndrome Type 1
Long philtrum, Abnormality of epiphysis morphology, Sensorineural hearing impairment, Osteoarthri... ORPHA:90653
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Short neck, Low-set ears, Sensorineural hearing impairment, Wide nasal bridge, Mi... OMIM:614230
Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/Palate
Abnormality of the dentition, Sparse hair, Split hand, Split foot OMIM:129810
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Brachydactyly, Clinodactyly, Pierre-Robin sequence, Short neck, Short palm, Agenesis of corpus ca... OMIM:217980
Pycnodysostosis
Micrognathia, Hypoplastic iliac wing, Scoliosis, Small hand, Decreased response to growth hormone... ORPHA:763
Fryns Syndrome
Long philtrum, Hypoplasia of the optic tract, Short thumb, Tented upper lip vermilion, Dandy-Walk... OMIM:229850
Saethre-Chotzen Syndrome
Open bite, Clinodactyly of the 5th finger, Prominent crus of helix, Scoliosis, Hallux valgus, Cle... ORPHA:794
Charcot-Marie-Tooth Disease, Axonal, Type 2E
High palate, Ulnar claw, Hammertoe, Hypotrophy of the small hand muscles, Scoliosis, Split hand OMIM:607684
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Thoracic platyspondyly, Micrognathia, Cleft palate... OMIM:108720
Brachydactyly, Type A1, C
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... OMIM:615072
Ring Chromosome 13 Syndrome
High palate, Short philtrum, Short neck, Agenesis of corpus callosum, Aplasia/Hypoplasia of the t... ORPHA:96176
Schisis Association
Unilateral cleft lip, Anencephaly, Tracheoesophageal fistula, Anal atresia, Micromelia, Microceph... ORPHA:63862
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Hypoplasia of the corpus callosum, Progressive microcephaly, Bulbous nose... OMIM:618737
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Short neck, Delayed eruption of teeth, Hypertrichosis, Kyphosis, Widely s... OMIM:309900
Craniodigital-Intellectual Disability Syndrome
Generalized hirsutism, Finger syndactyly, Long eyelashes, Thick eyebrow, Abnormal hair pattern, M... ORPHA:1514
Acrodysostosis 1 With Or Without Hormone Resistance
Broad nasal tip, Hypoplastic vertebral bodies, Broad palm, Narrow vertebral interpedicular distan... OMIM:101800
Codas Syndrome
Brachydactyly, Coronal cleft vertebrae, Abnormality of pelvic girdle bone morphology, Delayed eru... ORPHA:1458
Cleidorhizomelic Syndrome
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Short middle ph... ORPHA:1453
Acrocallosal Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5th finger, Tapered... OMIM:200990
Focal Dermal Hypoplasia
Upper limb asymmetry, Open bite, Spina bifida, Scoliosis, Coarse metaphyseal trabecularization, A... ORPHA:2092
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Duplication of phalanx of ... OMIM:174500
Laron Syndrome
Brachydactyly, Hypoplastic nasal bridge, Delayed eruption of teeth, Depressed nasal ridge, Aplasi... ORPHA:633
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Long philtrum, Sandal gap, Clinodactyly of the 5th finger, Tapered finger, Thick eyebrow, Microgn... OMIM:617061
Gorlin Syndrome
Brachydactyly, Cerebral calcification, Vertebral wedging, Carious teeth, Wide nasal bridge, Arach... ORPHA:377
Lowry-Maclean Syndrome
Aplasia/Hypoplasia of the corpus callosum, Widely patent coronal suture, Micrognathia, High, narr... ORPHA:2409
Short Stature-Obesity Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Narrow nose, Microtia, Micrognathia, Micromelia, P... OMIM:269870
Martsolf Syndrome 1
Broad nasal tip, Broad fingertip, Micrognathia, Microcephaly, Short toe, Tooth malposition, High ... OMIM:212720
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Sensorineural hearing impairment, Tapered finger, Scoliosis, Split hand, Split foot OMIM:220600
Aicardi Syndrome
Hiatus hernia, Short philtrum, Protruding ear, Block vertebrae, Cleft upper lip, Sparse lateral e... ORPHA:50
Cooks Syndrome
Brachydactyly, Triphalangeal thumb, Dystrophic toenail, Dystrophic fingernails, Broad thumb, Spli... ORPHA:1487
Trichothiodystrophy 9, Nonphotosensitive
Brachydactyly, Sparse eyebrow, Sparse hair, High, narrow palate, Nail dystrophy, Dental malocclus... OMIM:619692
Acrofacial Dysostosis, Palagonia Type
Thin eyebrow, Micrognathia, High, narrow palate, Scoliosis, Small hand, Short neck, Pili torti, M... ORPHA:1787
14Q11.2 Microdeletion Syndrome
Narrow mouth, Toe syndactyly, High palate, Toe clinodactyly, Long philtrum, Sparse lateral eyebro... ORPHA:261120
Neu-Laxova Syndrome 1
Clinodactyly, Pterygium, Cerebellar hypoplasia, Micrognathia, Micromelia, Microcephaly, Spina bif... OMIM:256520
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Short femoral neck, Sensorineural hearing impairment, M... OMIM:608154
Weaver Syndrome
Finger syndactyly, Long philtrum, Sandal gap, Deep philtrum, Fine hair, Micrognathia, Low-set, po... ORPHA:3447
Congenital Neuronal Ceroid Lipofuscinosis
Agenesis of corpus callosum, Low-set ears, Cerebellar hypoplasia, Wide nasal bridge, Microcephaly... ORPHA:168486
Familial Digital Arthropathy-Brachydactyly
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... ORPHA:85169
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Long philtrum, Cerebellar hypoplasia, Micrognathia, Ulnar deviation of the hand or of fingers of ... OMIM:602613
Ceroid Lipofuscinosis, Neuronal, 10
Cerebral atrophy, Low-set ears, Wide nasal bridge, Microcephaly, Neonatal death, Split hand OMIM:610127
Brachydactyly, Type E2
Brachydactyly, Delayed eruption of teeth, Short metacarpal, Oligodontia, Short metatarsal OMIM:613382
Achondroplasia
Hip joint hypermobility, Narrow greater sciatic notch, Brachydactyly, Bowing of the legs, Trident... ORPHA:15
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Clinoda... ORPHA:3409
Suleiman-El-Hattab Syndrome
Clinodactyly, Long philtrum, Frontal hirsutism, Thick eyebrow, Highly arched eyebrow, Microcephal... OMIM:618950
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Micrognathia, Dandy-Walker malformation, Midline defect of the nose, ... OMIM:236680
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow dislocations, Mi... OMIM:166300
Brachydactyly, Type A3
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... OMIM:112700
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... OMIM:606835
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida occulta, Cutaneous finger ... OMIM:183802
Mucopolysaccharidosis Type 1
Abnormal hip bone morphology, Everted lower lip vermilion, Widely spaced teeth, Microdontia, Scol... ORPHA:579
Diprosopus
Non-midline cleft lip, Abnormality of the nose, Anencephaly, External ear malformation, Cleft palate ORPHA:1681
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Conductive hearing impairment, Enlarged cochlear aque... ORPHA:90646
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Hypodontia, Short phalanx of finger, Everted lower li... OMIM:225410
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Vertebral fusion, Mand... OMIM:263540
Eec Syndrome
Coarse hair, Thick eyebrow, Microdontia, Fine hair, Slow-growing hair, Decreased response to grow... ORPHA:1896
Apert Syndrome
Bifid uvula, Cervical C5/C6 vertebrae fusion, Micromelia, Mandibular prognathia, Broad thumb, Cle... ORPHA:87
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Long philtrum, Radial club hand, Aplasia/Hypoplasia of the thumb, Conduct... ORPHA:2878
Meckel Syndrome, Type 4
Bowing of the long bones, Hypoplasia of the corpus callosum, Anencephaly, Microcephaly, Dandy-Wal... OMIM:611134
Sugarman Brachydactyly
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... OMIM:272150
Nager Syndrome
Abnormal palate morphology, Phocomelia, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, H... ORPHA:245
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Kyphoscoliosis, Genu recurvatum, Malar prominence, Abnormality of the dentition... OMIM:604168
Vacterl With Hydrocephalus
Abnormality of the outer ear, Abnormal form of the vertebral bodies, Tracheoesophageal fistula, H... ORPHA:3412
Robin Sequence With Cleft Mandible And Limb Anomalies
Bifid uvula, Cleft mandible, Fibular hypoplasia, Clinodactyly of the 5th finger, Short thumb, Cle... OMIM:268305
Van Den Ende-Gupta Syndrome
Underdeveloped nasal alae, Narrow nose, Everted lower lip vermilion, Distal ulnar hypoplasia, Hig... OMIM:600920
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Hypodontia, ... ORPHA:2972
Syndactyly Type 2
Symphalangism affecting the phalanges of the hand, Mesoaxial polydactyly, Short palm, Postaxial f... ORPHA:93403
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Hand oligodactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Microcephaly, Scoliosis, Metaphyseal widening, Genu valgum, High palate, Conductive... OMIM:182212
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Brachydactyly, Narrow mouth, Abnormality of pelvic girdle bone morphology, Abnormal form of the v... ORPHA:2370
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Fron... ORPHA:1528
Holoprosencephaly
Panhypopituitarism, Thick eyebrow, Aplasia/Hypoplasia of the corpus callosum, Highly arched eyebr... ORPHA:2162
Split-Hand/Foot Malformation 2
Finger syndactyly, Short metacarpal, Short phalanx of finger, Split hand, Split foot OMIM:313350
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Long nose, Congenital stapes ankylosis, Underdeveloped nasal alae, Conductive hea... OMIM:184460
Radio-Tartaglia Syndrome
Long philtrum, Thick eyebrow, Tapered finger, Micrognathia, Highly arched eyebrow, High, narrow p... OMIM:619312
Pfeiffer Syndrome
Brachydactyly, Synostosis of carpal bones, High palate, Symphalangism affecting the phalanges of ... ORPHA:710
Tetrasomy X
Brachydactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormality of the dentitio... ORPHA:9
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Malar ... ORPHA:52056
Waardenburg Syndrome, Type 3
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, Sensorineural hearing ... OMIM:148820
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Brachydactyly, Short neck, Broad columella, Underdeveloped nasal alae, Low-set ears, Micrognathia... ORPHA:436245
Lambert Syndrome
Branchial anomaly, Malar flattening, Aplasia/Hypoplasia of the cerebellum, Wide mouth ORPHA:1296
Terminal Osseous Dysplasia
Brachydactyly, Toe clinodactyly, Low-set ears, Mesomelic leg shortening, Abnormal oral frenulum m... OMIM:300244
X-Linked Mandibulofacial Dysostosis
Webbed neck, High palate, Conductive hearing impairment, Aplasia/Hypoplasia of the eyebrow, Senso... ORPHA:1131
Raine Syndrome
Microdontia, Micrognathia, Highly arched eyebrow, Micromelia, Microcephaly, Mandibular prognathia... OMIM:259775
Acrocephalopolysyndactyly Type Iii
Craniosynostosis, Short neck, Low-set ears, Broad hallux, Hypoplasia of the maxilla, Preaxial han... OMIM:101120
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Hypoplasia of the corpus callosum, Kyphosis, Bulbous nose, Sandal gap, Abnormal ce... OMIM:300354
Zechi-Ceide Syndrome
Short philtrum, Abnormal helix morphology, Low-set ears, Sandal gap, Oligodontia, Conductive hear... ORPHA:217017
Gombo Syndrome
Brachydactyly, Clinodactyly, Microcephaly, Radial deviation of finger OMIM:233270
Smith-Magenis Syndrome
Brachydactyly, Abnormality of the outer ear, Short palm, Velopharyngeal insufficiency, Abnormalit... OMIM:182290
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5... ORPHA:193
Split-Hand And Split-Foot With Hypodontia
Hypodontia, Split hand, Split foot OMIM:183500
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Abnormal hip bone morphology, Finger syndactyly, Clinodactyly of the 5th finger, Abnormality of t... ORPHA:1891
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Coronal cleft vertebrae, Long philtrum, Micromelia, Scoliosis, Scapular winging, Genu valgum, Bra... OMIM:618870
Thiemann Disease, Familial Form
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology ORPHA:3314
Otodental Syndrome
Abnormality of the maxilla, Anteverted nares, Delayed eruption of teeth, Long philtrum, Pulp calc... ORPHA:2791
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips, Microcephaly, Clinodac... OMIM:211369
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Thoracic kyphosis, Low-set ears, Widely spaced teeth, Arachnodactyly, Microcephaly,... OMIM:619092
Meckel Syndrome, Type 2
Bowing of the long bones, Anencephaly, Polydactyly, Dandy-Walker malformation, Postaxial hand pol... OMIM:603194
Mucopolysaccharidosis, Type Vi
Macroglossia, Hypoplastic iliac wing, Anterior wedging of L2, Metaphyseal widening, Genu valgum, ... OMIM:253200
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Patchy alopecia, Thick eyebrow, Micrognathia, Microcephaly, Mandibular prognathia, Protruding ear... OMIM:300534
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Long philtrum, Progressive microcephaly, Global brain atrophy, Hyperintensity of cerebral white m... ORPHA:481152
Focal Dermal Hypoplasia
Broad nasal tip, Patchy alopecia, Brittle hair, Foot polydactyly, Microcephaly, Scoliosis, Cleft ... OMIM:305600
Aredyld Syndrome
Brachydactyly, Narrow mouth, Abnormality of pelvic girdle bone morphology, Craniofacial hyperosto... ORPHA:1133
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Bifid uvula, Broad femoral neck, Tapered finger, Flat capital femoral epiphysis, High palate, Hyp... OMIM:612350
Smith-Lemli-Opitz Syndrome
Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcephaly, Scoliosis, ... ORPHA:818
Yunis-Varon Syndrome
Clinodactyly, Absent middle phalanx of 2nd finger, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:216340
Mandibulofacial Dysostosis With Alopecia
Cupped ear, Trismus, Low-set ears, Conductive hearing impairment, Sparse eyebrow, Wide nasal brid... OMIM:616367
Otopalatodigital Syndrome, Type Ii
Short thumb, Micrognathia, Bulbous tips of toes, Cleft palate, Narrow mouth, Irregular metacarpal... OMIM:304120
Oculomaxillofacial Dysostosis
Brachydactyly, Underdeveloped nasal alae, Abnormality of the dentition, Aplasia/Hypoplasia of the... ORPHA:1794
Robinow Syndrome, Autosomal Dominant 1
Clinodactyly, Long philtrum, Bifid distal phalanx of toe, Micrognathia, Macroglossia, Small hand,... OMIM:180700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Recur... OMIM:608940
Acrodysostosis 2 With Or Without Hormone Resistance
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Red h... OMIM:614613
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Scoliosis, Abnormality of femoral epiphysis, Irregular carpal ... ORPHA:750
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Optic nerve hypopla... OMIM:610829
Distal Monosomy 10Q
Widow's peak, Clinodactyly, Abnormality of the outer ear, Cerebellar hypoplasia, Sandal gap, Clin... ORPHA:96148
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Lumbar hyperlordos... ORPHA:313892
Anencephaly 2
Cleft of alveolar ridge of maxilla, Median cleft palate, Anencephaly, Bifid nose, Median cleft lip OMIM:619452
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Kyphosis, Low-set ears, Rocker bottom foot, Thick eyebrow, Open mout... OMIM:615547
Meckel Syndrome
Bowing of the long bones, Aplasia/Hypoplasia of the tongue, Postaxial foot polydactyly, Depressed... ORPHA:564
Meckel Syndrome, Type 5
Bowing of the long bones, Cleft upper lip, Postaxial foot polydactyly, Occipital encephalocele, A... OMIM:611561
Autosomal Dominant Popliteal Pterygium Syndrome
Generalized hirsutism, Toe syndactyly, Finger syndactyly, Lip pit, Popliteal pterygium, Non-midli... ORPHA:1300
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Ectopic anus, Finger syndactyly, Short neck, Abnormality of the dentition, Triphalangeal thumb, M... ORPHA:2994
Coloboma Of Macula-Brachydactyly Type B Syndrome
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb ORPHA:1471
20P13 Microdeletion Syndrome
Brachydactyly, Clinodactyly, Abnormal pinna morphology, Finger syndactyly, Low-set ears, Hypoplas... ORPHA:313781
Osteoglosphonic Dysplasia
Brachydactyly, Craniosynostosis, Abnormal form of the vertebral bodies, Rhizomelia, Micrognathia,... ORPHA:2645
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Syndactyly, Type Iii
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Short 5th finger, Syndactyly OMIM:186100
Tonne-Kalscheuer Syndrome
Brachydactyly, Narrow mouth, Velopharyngeal insufficiency, Wide nasal bridge, Fine hair, Microgna... OMIM:300978
Trisomy 20P
Abnormal hip bone morphology, Coarse hair, Thick eyebrow, Everted lower lip vermilion, Microdonti... ORPHA:261318
Endocrine-Cerebroosteodysplasia
Brachydactyly, Hydrocephalus, Cleft upper lip, Low-set ears, Aplasia/Hypoplasia of the corpus cal... OMIM:612651
Brachydactyly, Type A4
Short middle phalanx of the 2nd finger, Type A brachydactyly, Short middle phalanx of the 5th fin... OMIM:112800
Pallister-Hall Syndrome
Hypothalamic hamartoma, Abnormal corpus callosum morphology, Bifid uvula, Mesoaxial polydactyly, ... ORPHA:672
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Brachydactyly, Thin vermilion border, Short neck, Patellar hypoplasia, Depressed nasal ridge, Lon... ORPHA:464288
Trisomy 8Q
Brachydactyly, High palate, Myelomeningocele, Short neck, Non-midline cleft lip, Everted lower li... ORPHA:1752
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Brachydactyly, Short neck, Underdeveloped nasal alae, Abnormal hair pattern, Micrognathia, Highly... ORPHA:2083
Acromicric Dysplasia
Brachydactyly, Narrow mouth, Ovoid vertebral bodies, Short palm, Abnormality of epiphysis morphol... ORPHA:969
Temtamy Preaxial Brachydactyly Syndrome
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Microdontia, Deep philtrum, Hig... OMIM:605282
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Conical tooth, Overhanging nasal tip, Hypoplasia of the ... OMIM:619142
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Clinodactyly, Cerebral atrophy, Enlarged joints, Agenesis of corpus callosum, Cutaneous syndactyl... ORPHA:166024
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Sandal gap, Atresia of the external auditory ca... ORPHA:2980
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Narrow palate, Finger syndactyly, Delayed eruption of teeth, Low-set ears, Short met... OMIM:264475
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad nasal tip, Cone-shaped capital femoral epiphysis, Broad palm, Thick eyebrow, Metaphyseal wi... OMIM:300232
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Enlarged joints, Delayed eruption of teeth, Long philtrum, Ab... ORPHA:263463
Craniofrontonasal Dysplasia
Widow's peak, Woolly hair, Sandal gap, Clinodactyly of the 5th finger, Microcephaly, Scoliosis, M... ORPHA:1520
Rapp-Hodgkin Syndrome
Recurrent otitis media, Bifid uvula, Underdeveloped nasal alae, Narrow nose, Microdontia, Fine ha... OMIM:129400
Pseudopseudohypoparathyroidism
Brachydactyly, Short neck, Delayed eruption of teeth, Enamel hypoplasia, Short metacarpal, Depres... OMIM:612463
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Hypoplasia of the maxilla, Microcephaly, Prominent nasal bridge, Basal ganglia ... OMIM:608432
Dermatoosteolysis, Kirghizian Type
Oligodontia, Nail dystrophy, Scoliosis, Ankle swelling, Split hand, Joint contracture of the hand OMIM:221810
Dubowitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Sandal gap, Clinodactyly of the 5th finger, Fine hair,... ORPHA:235
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Goldberg-Shprintzen Syndrome
Clinodactyly, Thick eyebrow, Tapered finger, Everted lower lip vermilion, Highly arched eyebrow, ... OMIM:609460
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Scoliosis, Patellar dislocation, Ve... ORPHA:2916
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Anterior scalloping of vertebral bodies, Curly eyelashes, Hypoplastic iliac wing, ... OMIM:611717
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, High palate, Short philtrum, Agenesis of corpus callosum, Low-set ears, Open mouth, De... OMIM:309520
Distal 22Q11.2 Microduplication Syndrome
Long philtrum, Tapered finger, Micrognathia, Macroglossia, Microcephaly, Scoliosis, Camptodactyly... ORPHA:261337
Trisomy 9P
Brachydactyly, Impacted tooth, Short neck, Kyphosis, Non-midline cleft lip, Clinodactyly of the 5... ORPHA:236
Sclerosteosis 2
Hearing impairment, Cutaneous finger syndactyly, Short finger, Mandibular prognathia OMIM:614305
Acrocephalopolydactyly
Brachydactyly, Short neck, Cystic hygroma, Depressed nasal ridge, Microtia, Genu recurvatum, Limb... ORPHA:221054
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Broad nasal tip, Cervical C2/C3 vertebral fusion, Recurrent otitis media, Short 5t... ORPHA:370010
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Accessory oral frenulum, Foot polydactyly, High pala... OMIM:258860
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Broad nasal tip, Bifid uvula, Underdeveloped nasal alae, Open b... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Broad nasal tip, Bifid uvula, Underdeveloped nasal alae, Open b... ORPHA:352665
Atelosteogenesis Type Ii
Cervical kyphosis, Long philtrum, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia... ORPHA:56304
Neurofaciodigitorenal Syndrome
Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla, Abnormal oral mucosa ... ORPHA:2673
Ring Chromosome 4 Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the upper limb ORPHA:1447
Holoprosencephaly-Postaxial Polydactyly Syndrome
Narrow mouth, Absent nares, Hypoplasia of the premaxilla, Cerebellar hypoplasia, Intestinal malro... ORPHA:2166
Specific Granule Deficiency 2
Brachydactyly, Amelogenesis imperfecta, Recurrent otitis media, Simple ear, Low-set ears, Conical... OMIM:617475
Saul-Wilson Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Convex nasal ri... OMIM:618150
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Micromelia, Scoliosis, Short toe, Metaphyseal widen... OMIM:250215
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Sensorineural hearing impairment, Kyphoscoliosis, Talipes equinovarus, Spl... OMIM:604563
16P12.1P12.3 Triplication Syndrome
Brachydactyly, Large earlobe, 2-3 toe syndactyly, Bulbous nose, Long philtrum, Low-set ears, Thic... ORPHA:485405
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Bowing of the long bones, Toe syndactyly, Cerebral atrophy, Thin vermilion border, Craniosynostos... ORPHA:171839
3C Syndrome
Abnormal hip bone morphology, Micrognathia, High, narrow palate, Dandy-Walker malformation, Scoli... ORPHA:7
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Broad toe, Short upper lip, Short neck, Short palm, Low-set ears, Short phalanx of ... OMIM:271960
Microhydranencephaly
Agenesis of corpus callosum, Cerebellar hypoplasia, Hydranencephaly, Microcephaly, Hypoplasia of ... OMIM:605013
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Hammertoe, Kyphoscoliosis, Split hand, Hearing impairment OMIM:118220
Long-Thumb Brachydactyly Syndrome
Brachydactyly, Short finger, Long thumb OMIM:112430
Anauxetic Dysplasia 1
Brachydactyly, Delayed ossification of carpal bones, Short neck, Rhizomelia, Cervical subluxation... OMIM:607095
Wolf-Hirschhorn Syndrome
Short thumb, Micrognathia, Highly arched eyebrow, Microcephaly, Scoliosis, Vertebral fusion, Hip ... OMIM:194190
Treacher-Collins Syndrome
Multiple enchondromatosis, Open bite, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bon... ORPHA:861
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Oligodontia, Supernumerary too... OMIM:191482
Oculodentodigital Dysplasia
Clinodactyly, Brittle hair, Underdeveloped nasal alae, Clinodactyly of the 5th finger, Fine hair,... ORPHA:2710
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Micrognathia, Cleft palate, Pierre-Robin sequence, Premature osteoarthri... OMIM:215150
Temtamy Syndrome
Brachydactyly, Long philtrum, Agenesis of corpus callosum, Low-set ears, Convex nasal ridge, Shor... OMIM:218340
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Sensorineural hearing impairment, At... ORPHA:52429
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Solitary median maxillary cent... OMIM:610828
Mucolipidosis Iii Alpha/Beta
Short long bone, Shallow acetabular fossae, Craniosynostosis, Scoliosis, Irregular carpal bones, ... OMIM:252600
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Kyphosis, Long palm, Hypoplasia of the maxilla, Scoliosis, Prominent nasal bridge, M... OMIM:300676
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Clinodactyly, Anosmia, Cleft upper lip, Agenesis of corpus callosum, Sensorineural hearing impair... OMIM:147950
Charcot-Marie-Tooth Disease Type 4D
Hammertoe, Sensorineural hearing impairment, Distal upper limb muscle weakness, Upper limb amyotr... ORPHA:99950
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Marshall Syndrome
Long philtrum, Micrognathia, Hypoplasia of the zygomatic bone, Genu valgum, Cleft palate, Short n... ORPHA:560
Orofaciodigital Syndrome Xviii
Brachydactyly, Accessory oral frenulum, Short philtrum, Single transverse palmar crease, Sandal g... OMIM:617927
Neural Tube Defects, Susceptibility To
Myelomeningocele, Anencephaly, Asymmetry of spinal facet joints, Hydrocephalus, Spina bifida occulta OMIM:182940
Fountain Syndrome
Brachydactyly, Abnormal palate morphology, Kyphosis, Abnormal form of the vertebral bodies, Crani... ORPHA:3219
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Brachydactyly, Bifid uvula, Short neck, Protruding tongue, Sensorineural hearing impairment, Macr... OMIM:612938
Pseudoleprechaunism Syndrome, Patterson Type
Metaphyseal sclerosis, Delayed pubic bone ossification, Palmoplantar cutis laxa, Abnormal mandibl... ORPHA:2976
Cleft Velum
Recurrent otitis media, Velopharyngeal insufficiency, Cleft soft palate, Conductive hearing impai... ORPHA:99772
Nicolaides-Baraitser Syndrome
Long philtrum, Sandal gap, Everted lower lip vermilion, Highly arched eyebrow, Curly eyelashes, H... ORPHA:3051
Distal Xq28 Microduplication Syndrome
Clinodactyly, Broad nasal tip, Recurrent upper respiratory tract infections, High palate, Open mo... ORPHA:293939
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Thin upper lip vermilion, Hyperplasia of the maxilla, Abnormal cerebral white matter morphology OMIM:618587
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Split hand, Split foot, Hand monodactyly OMIM:183800
Smith-Magenis Syndrome
Corticospinal tract hypoplasia, Aplasia/Hypoplasia of the corpus callosum, Clinodactyly of the 5t... ORPHA:819
Brown-Vialetto-Van Laere Syndrome 2
Sensorineural hearing impairment, Scoliosis, Tongue fasciculations, Kyphoscoliosis, Split hand OMIM:614707
Fgfr2-Related Bent Bone Dysplasia
Brachydactyly, Bowing of the legs, Hypoplastic ischia, Abnormality of the outer ear, Coronal cran... ORPHA:313855
D-Bifunctional Protein Deficiency
High palate, Cerebral dysmyelination, Hypoplasia of the corpus callosum, Long philtrum, Hammertoe... OMIM:261515
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Brachydactyly, Broad nasal tip, Wide nasal base, Anteverted nares, Broad columella, Long philtrum... OMIM:617763
Vacterl/Vater Association
Finger syndactyly, Non-midline cleft lip, Occipital encephalocele, Anencephaly, Tracheoesophageal... ORPHA:887
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Aplasia/Hypoplasia of the nasal bone, Coarse hair, Coronal craniosynostosi... ORPHA:2095
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short hu... ORPHA:2019
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Low-set ears, Tapered finger, Short phalanx of finger, Long fingers, Proximal place... OMIM:613458
Finnish Upper Limb-Onset Distal Myopathy
Weakness of the intrinsic hand muscles, Split hand, Joint contracture of the hand, Intrinsic hand... ORPHA:399086
Mucolipidosis Ii Alpha/Beta
Recurrent otitis media, Long philtrum, Macroglossia, Metaphyseal widening, Hip dislocation, Ovoid... OMIM:252500
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, Sandal gap, Clinodactyly of the 5th finger, Highly arched eyebrow, Hig... ORPHA:261330
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Widely spaced teeth, Macroglossia, Mandibular prognathia, Short nose, High palate, ... ORPHA:369891
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Carious teeth, Prominent nose, Large fleshy ears, Alopecia, Generalized ... OMIM:203550
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Charcot-Marie-Tooth Disease And Deafness
Sensorineural hearing impairment, Split hand, Hammertoe OMIM:118300
22Q11.2 Deletion Syndrome
Foot polydactyly, Long philtrum, Small earlobe, Micrognathia, Microcephaly, Spina bifida, Scolios... ORPHA:567
Otopalatodigital Syndrome, Type I
Sandal gap, Abnormality of the fifth metatarsal bone, Bulbous tips of toes, Scoliosis, Multiple i... OMIM:311300
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Scoliosis, Split hand, Hearing impairment OMIM:616688
Crouzon Syndrome
Multiple suture craniosynostosis, Cerebellar hypoplasia, Conductive hearing impairment, Convex na... ORPHA:207
Wt Limb-Blood Syndrome
Absent thumb, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Short phalanx of ... OMIM:194350
Wolf-Hirschhorn Syndrome
Short thumb, Micrognathia, Highly arched eyebrow, Microcephaly, Scoliosis, Abnormality of the mou... ORPHA:280
Cardioacrofacial Dysplasia 2
Brachydactyly, Clubbing, Accessory oral frenulum, Short philtrum, Postaxial foot polydactyly, Con... OMIM:619143
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Bulbous nose, Low-set ears, Prominence of the premaxilla, Convex nasal ridge, Microg... OMIM:614437
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Microdontia, Microce... OMIM:210720
Campomelic Dysplasia
Narrow iliac wing, Long philtrum, Fibular hypoplasia, Poorly ossified cervical vertebrae, Microgn... OMIM:114290
Tetramelic Monodactyly
Split hand, Split foot, Foot monodactyly, Hand monodactyly OMIM:187510
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Brachydactyly, Irregular epiphyses, Absent nasal bridge, Short neck, Low-set ears, Rhizomelia, Pl... OMIM:612813
Genitopalatocardiac Syndrome
Brachydactyly, Kyphosis, Low-set ears, Non-midline cleft lip, Wide nasal bridge, Micrognathia, Mi... ORPHA:2075
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Coxa valga, Agenesis of corpus callosum, Sensorineural hearing impairment, Hypoplasia of the maxi... OMIM:109120
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Abnormal palate morphology, Short 5th metacarpal, Anterio... ORPHA:1350
Cleft Lip/Palate
Recurrent otitis media, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors... ORPHA:199306
Acrorenal-Mandibular Syndrome
Foot polydactyly, Micrognathia, Hemivertebrae, Hip dislocation, High palate, Absent nipple, Hypop... OMIM:200980
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Small earlobe, Underdeveloped nasal alae, Thin eyebrow, Agenesis of central incis... ORPHA:364577
Chromosome 15Q13.3 Deletion Syndrome
Brachydactyly, Clinodactyly of the 5th finger, Synophrys OMIM:612001
Silver-Russell Syndrome 3
Low-set ears, Syndactyly, Retrognathia, Finger clinodactyly OMIM:616489
Pentalogy Of Cantrell
Hydrocephalus, Non-midline cleft lip, Anencephaly, Oral cleft, Scoliosis, Abnormality of tibia mo... ORPHA:1335
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Ulnar claw, Split hand, Hammertoe OMIM:145900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Broad nasal tip, Microdontia, Microcephaly, Decreased response to growth hormone stimulation test... OMIM:129900
Cardiospondylocarpofacial Syndrome
Brachydactyly, Synostosis of carpal bones, Short palm, Abnormal form of the vertebral bodies, Fai... ORPHA:3238
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Absent eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Highly arched eye... ORPHA:228396
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Absent pubic hair, Low-set ears, Short metacarpal, Short phalanx of finger, Fine hair, Hypoplasia... OMIM:211370
Trichorhinophalangeal Syndrome, Type I
Long philtrum, Thin eyebrow, Microdontia, Fine hair, Micrognathia, Slow-growing hair, Pear-shaped... OMIM:190350
Keipert Syndrome
Brachydactyly, Clinodactyly, Low-set ears, Sensorineural hearing impairment, Thick upper lip verm... OMIM:301026
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, 2-5 finger cutaneous syndactyly, Popliteal pterygium, Low-set ears, Micr... OMIM:619339
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand OMIM:612576
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Microdontia, Decreased response to growth hormone stimulation test, Cleft palate, Cleft upper lip... OMIM:604292
Cri-Du-Chat Syndrome
Bifid uvula, Microcephaly, Scoliosis, High palate, Single transverse palmar crease, Short neck, M... OMIM:123450
Acromesomelic Dysplasia 4
Genu varum, Prominent deltoid tuberosities, Sandal gap, Thick eyebrow, Thoracic platyspondyly, Sh... OMIM:619636
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Long philtrum, Clinodactyly of the 5th finger, Thick eyebrow, Microdontia, Micrognathia, Highly a... OMIM:610759
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Popliteal pterygium, Fibular hypoplasia, Split hand, Abnormalit... ORPHA:3329
Limb Body Wall Complex
Aplasia of the proximal phalanges of the hand, Spina bifida, Forearm reduction defects, Aplasia/h... ORPHA:2369
Coffin-Siris Syndrome 7
Brachydactyly, Clinodactyly, Short philtrum, Recurrent otitis media, Low-set ears, Thick eyebrow,... OMIM:618027
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Split hand, Hand muscle weakness ORPHA:100998
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal distal phalanx morphology of finger, Long philtrum, Frontal hirsutism, Metaphyseal spurs... ORPHA:96334
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Split hand, Hammertoe OMIM:605726
Craniotelencephalic Dysplasia
Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Fro... OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Cerebellar hypoplasia, Anencephaly, Dandy-W... OMIM:615287
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Broad hallux, Hallux varus, Syndactyly OMIM:234280
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Narrow mouth, Sandal gap, Overlapping fingers, Tapered finger, Broad... OMIM:618435
Multiple Synostoses Syndrome
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Conductive hearing ... ORPHA:3237
Acrofrontofacionasal Dysostosis 2
Widow's peak, High palate, Low-set ears, Broad hallux, Hand polydactyly, Thickened nuchal skin fo... OMIM:239710
Rubinstein-Taybi Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Generalized hirsutism, High palate, ... ORPHA:783
Anonychia-Ectrodactyly
Split hand, Aplasia of metacarpal bones OMIM:106900
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Brachydactyly, Hypoplastic ischia, Hydrocephalus, Single transverse palmar crease, 2-3 toe syndac... OMIM:617866
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Kyphosis, Ovoid vertebral bodies, Abnorma... ORPHA:40
Carey-Fineman-Ziter Syndrome
Brachydactyly, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, High palate, Thin vermili... ORPHA:1358
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Nail dystrophy, Spl... OMIM:106990
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of toe, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the eyebrow, Mic... ORPHA:3082
Microphthalmia With Limb Anomalies
Fibular hypoplasia, Sandal gap, Retrognathia, Cleft palate, Short nose, Hip dislocation, High pal... OMIM:206920
Emery-Nelson Syndrome
Brachydactyly, High palate, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Lon... ORPHA:1927
Fetal Akinesia Syndrome, X-Linked
Agenesis of corpus callosum, Stillbirth, Arrhinencephaly OMIM:300073
Tricho-Retino-Dento-Digital Syndrome
Brachydactyly, Short 5th metacarpal, Oligodontia, Supernumerary tooth, Sparse hair, Abnormality o... ORPHA:1264
Abruzzo-Erickson Syndrome
Brachydactyly, Toe syndactyly, Abnormal palate morphology, Conductive hearing impairment, Sensori... ORPHA:921
Bohring-Opitz Syndrome
Broad palm, Tapered finger, Micrognathia, Microcephaly, Dandy-Walker malformation, Hypoplasia of ... OMIM:605039
Filippi Syndrome
Short philtrum, Thin vermilion border, Single transverse palmar crease, Hypertrichosis, Underdeve... OMIM:272440
Acrocephalopolysyndactyly Type Iv
Clinodactyly, Syndactyly, Hand polydactyly, Ulnar deviation of the hand or of fingers of the hand... OMIM:201020
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Long philtrum, Thick eyebrow, Curly eyelashes, Broad long bones, Abno... ORPHA:163654
Congenital Heart Defects And Skeletal Malformations Syndrome
Long nose, High palate, Intestinal malrotation, Narrow nose, Carious teeth, Anal atresia, Arachno... OMIM:617602
Kniest-Like Dysplasia, Lethal
Brachydactyly, Narrow mouth, Metaphyseal irregularity, Coronal cleft vertebrae, Short neck, Hypop... OMIM:245190
17Q24.2 Microdeletion Syndrome
Recurrent otitis media, Thick eyebrow, Micrognathia, Scoliosis, Thin upper lip vermilion, Otoscle... ORPHA:529962
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Hydrocephalus, Congenital, 3, With Brain Anomalies
Dandy-Walker malformation, Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Talipes equinovarus, Split hand OMIM:607831
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Radioulnar s... ORPHA:71289
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Micrognathia, Scoliosis, Pr... ORPHA:77258
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Brachydactyly, Synostosis of carpal bones, Vertebral segmentation defect, Finger syndactyly, Kyph... ORPHA:1005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Brachydactyly, Polydactyly OMIM:617405
Postaxial Tetramelic Oligodactyly
Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology, Abnormality of finger ORPHA:2730
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb OMIM:176305
Metaphyseal Acroscyphodysplasia
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... ORPHA:1240
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Ulnar claw, Split hand OMIM:606595
Camptodactyly Syndrome, Guadalajara, Type I
Long neck, Bifid uvula, Small earlobe, Fibular hypoplasia, Abnormality of dental eruption, Microc... OMIM:211910
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Microcephaly, ... OMIM:223800
Greenberg Dysplasia
Hypoplastic vertebral bodies, Broad palm, Micrognathia, Micromelia, Absent distal phalanges, Retr... OMIM:215140
Split-Foot Malformation With Mesoaxial Polydactyly
Sensorineural hearing impairment, Cutaneous syndactyly OMIM:616890
Nasopalpebral Lipoma-Coloboma Syndrome
Widow's peak, Cupped ear, Low-set ears, Clinodactyly of the 5th finger, Wide nasal bridge, Hypopl... OMIM:167730
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Low-set ears, P... ORPHA:2347
Meier-Gorlin Syndrome 5
Clinodactyly, Long philtrum, Small earlobe, Low-set ears, Microtia, Elbow dislocation, Micrognath... OMIM:613805
Microcephalic Primordial Dwarfism, Toriello Type
Brachydactyly, Abnormality of epiphysis morphology, Enamel hypoplasia, Microcephaly, Downturned c... ORPHA:2643
Greenberg Dysplasia
Brachydactyly, Abnormal pelvis bone ossification, Abnormal form of the vertebral bodies, Rhizomel... ORPHA:1426
Ritscher-Schinzel Syndrome 1
Low-set ears, Micrognathia, Anal atresia, Dandy-Walker malformation, Depressed nasal bridge, Hydr... OMIM:220210
Distal 17P13.1 Microdeletion Syndrome
High palate, Limitation of knee mobility, Abnormal hand morphology, Arachnodactyly, Microcephaly,... ORPHA:319171
Branchiootic Syndrome 1
Cupped ear, Low-set ears, Sensorineural hearing impairment, Microtia, Cochlear malformation, Bran... OMIM:602588
Brachydactyly, Type A1, B
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... OMIM:607004
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Short neck, Low-set ears, Aplastic clavicle, Preaxial polydactyly, Anencephaly, Mi... OMIM:616546
15Q24 Microdeletion Syndrome