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Gene: Gas1 MGI:95655

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

growth arrest specific 1

Synonyms:

Gas-1

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 Gas1 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 Gas1 (6 diseases)
Human diseases predicted to be associated with Gas1 (2330 diseases)

The table below shows human diseases associated to Gas1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele	ORPHA:280195
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93924

The table below shows human diseases predicted to be associated to Gas1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Occipital encephalocele, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Pierre Robin Syndrome And Oligodactyly	Hand oligodactyly, Micrognathia	OMIM:172880
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Hhhh Syndrome	Hemiatrophy	OMIM:306960
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia, Brachydactyly	OMIM:618879
Holoprosencephaly 7	Alobar holoprosencephaly, Synophrys, Hypoplastic nasal septum, Holoprosencephaly, Shallow orbits,...	OMIM:610828
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Pes planus, Short metacarpal, Ataxia, Coxa valga, Short metatarsal, Limb atax...	OMIM:248800
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Osseous Heteroplasia, Progressive	Limb undergrowth	OMIM:166350
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Spondyloepimetaphyseal Dysplasia, Irapa Type	Waddling gait, Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusio...	OMIM:271650
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Ataxia, Brachydactyly	OMIM:113400
Zechi-Ceide Syndrome	Cerebellar vermis hypoplasia, Sandal gap, Short metatarsal, Long foot, Short distal phalanx of fi...	OMIM:612916
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Otodental Syndrome	Lens coloboma, Microcornea, Periodontitis, Otitis media with effusion, Abnormal dental pulp morph...	ORPHA:2791
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara...	ORPHA:93351
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta...	OMIM:250460
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Adams-Oliver Syndrome 3	Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho...	OMIM:614814
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Epicanthus, Abnormality of the middle ear ossicles, Conductive hearing impairme...	ORPHA:90646
Epiphyseal Dysplasia, Multiple, 1	Waddling gait, Epiphyseal dysplasia, Short metacarpal, Pes planus, Avascular necrosis of the capi...	OMIM:132400
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor...	ORPHA:750
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Frontonasal Dysplasia 1	Epicanthus, Cataract, Median cleft lip, Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxil...	OMIM:136760
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Epicanthus, Abnormality of the philtrum, Corneal dystrophy, Prominent nasa...	ORPHA:2673
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormality iris morphology...	ORPHA:1617
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ...	OMIM:180870
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Anteverted nares, Highly arched eyebrow, Wide nasal bridge, Lobar holoprosencephaly, L...	OMIM:614701
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly, Hydrocephalus	OMIM:615938
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormalit...	OMIM:609324
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Cerebellar vermis hypoplasia, Femoral retroversion, Microgn...	OMIM:616531
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Camptodactyly of 2nd-5th fingers, High palate, Synostosi...	ORPHA:1106
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Ataxia, Small hand, Truncal...	OMIM:610185
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Acromicric Dysplasia	Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa...	OMIM:102370
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Synophrys, H...	OMIM:609637
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Holoprosencephaly 9	Anophthalmia, Hypoplasia of the maxilla, Single naris, Short philtrum, Holoprosencephaly, Depress...	OMIM:610829
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Zechi-Ceide Syndrome	Cerebellar vermis hypoplasia, Sandal gap, Short metatarsal, Long foot, Short distal phalanx of fi...	ORPHA:217017
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Flexion contracture of toe, Camptodactyly of finger, Gait ataxia	OMIM:619323
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Spondylo-Ocular Syndrome	Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Abnorm...	ORPHA:85194
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Cohen Syndrome	Pes planus, Short metacarpal, Bone spicule pigmentation of the retina, Single transverse palmar c...	OMIM:216550
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Brachydactyly, Single transverse palmar crease, Short first metatar...	OMIM:601957
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Telecanthus, Absent tragus, Micrognathia, Hypoplasia of the maxilla, Accessory oral f...	ORPHA:79113
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Blue irides, Cone-shap...	OMIM:614613
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Pigmentary retinopathy, Hammertoe, Waddling gait	OMIM:619090
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Distal sensory impairment, Hammertoe, Steppag...	OMIM:618387
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Abruzzo-Erickson Syndrome	Epicanthus, Sensorineural hearing impairment, Cleft palate, Microcornea, Coloboma, Radioulnar syn...	ORPHA:921
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl...	OMIM:156510
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Ulnar deviation of the hand, Impaired vibration sensation at ankles, Abnormal...	OMIM:275900
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra...	OMIM:617719
Spondyloepiphyseal Dysplasia, Stanescu Type	Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Trismus, Vertebral wedging, Platyspondyly, Internal...	OMIM:616583
Nescav Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Talipes equinovarus, Cerebellar vermis atrophy	OMIM:614255
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Hip dysplasia, Clinod...	ORPHA:71289
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Crossed Polysyndactyly	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hearing abnormality, Postaxial hand polydacty...	ORPHA:2935
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim...	ORPHA:93320
Meckel Syndrome, Type 9	Limb undergrowth, Occipital encephalocele, Talipes equinovarus	OMIM:614209
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Distal Monosomy 7Q36	Micrognathia, Bulbous nose, Non-midline cleft lip, Optic atrophy, Cleft palate, Upslanted palpebr...	ORPHA:1636
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Fibular Hemimelia	Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ...	ORPHA:93323
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Intestinal malrotation, Hypoplasia of the prema...	ORPHA:2166
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Sensorineural hearing impairment, Optic atrophy, Upslanted p...	OMIM:620086
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Irregular vertebral endplates,...	OMIM:609223
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae	ORPHA:50809
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he...	OMIM:128980
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Ataxia	ORPHA:238446
Pseudodiastrophic Dysplasia	Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equinovarus, Scolio...	ORPHA:85174
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae	OMIM:609655
Acromicric Dysplasia	Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal...	ORPHA:969
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi...	OMIM:177170
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Hyporeflexia of upper limbs, Hyporeflexia...	OMIM:615705
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Hand muscle atrophy, Short third metatarsal, Camptodactyly of finger, Peroneal muscle atrophy, Ab...	ORPHA:324442
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Areflexia of upper limbs, Dysmetria, Gait ataxia, Limb ataxia, Arefle...	OMIM:616291
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Broad first metatarsal, 2-3 toe syndactyly,...	OMIM:123150
Monosomy 18P	Epicanthus, Micrognathia, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, Downtur...	ORPHA:1598
Rubinstein-Taybi Syndrome 2	Epicanthus, Posteriorly rotated ears, Intestinal malrotation, Highly arched eyebrow, Prominent no...	OMIM:613684
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Posteriorly rotated ears, Single transverse palmar crease, Overlapping toe, Micro...	OMIM:201170
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Long nose, Hypoplasia of the maxilla, Microcornea, Persistent pupi...	OMIM:257850
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Kniest Dysplasia	Arthropathy, Enlarged joints, Rhegmatogenous retinal detachment, Degenerative vitreoretinopathy, ...	ORPHA:485
Cofs Syndrome	Abnormality of retinal pigmentation, Prominent metopic ridge, Cataract, Camptodactyly of finger, ...	ORPHA:1466
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Multiple Epiphyseal Dysplasia Type 1	Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital f...	ORPHA:93308
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Delayed epiphyseal ossific...	OMIM:600969
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Short fourth metatarsal, Brachydactyly, Ataxia, Single transverse palmar crea...	OMIM:618143
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom...	OMIM:611638
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Frontal encephalocele, Abnormality of the upper limb, Clinodactyly of th...	ORPHA:521308
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Crouzon Syndrome	Ptosis, Choanal atresia, Hypoplasia of the maxilla, Hydrocephalus, Optic atrophy, Hypopigmented s...	ORPHA:207
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Cerebellar vermis hypoplasia, Micrognathia, Ulnar bowing, Shortening of a...	OMIM:619135
Deafness-Ear Malformation-Facial Palsy Syndrome	Abnormality of the stapes, Facial palsy, External ear malformation, Conductive hearing impairment...	ORPHA:3232
Acromegaloid Facial Appearance Syndrome	Large hands, Micrognathia, Short 5th metacarpal, Tapered finger	OMIM:102150
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Neonatal Adrenoleukodystrophy	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Anteverted nare...	ORPHA:44
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Trisomy 18	Microcornea, Pointed helix, Holoprosencephaly, Iris coloboma, Low-set, posteriorly rotated ears, ...	ORPHA:3380
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga	OMIM:271620
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormally large globe, Micrognathia, Hypoplasia of the maxilla, Widely...	ORPHA:363417
Lowry-Maclean Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Downturned corners of mouth, Megalo...	ORPHA:2409
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Abnormality o...	ORPHA:1390
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Cervical kyphosis, Sandal gap, Short nec...	OMIM:108721
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Arthralgia of the hip, Abnormality of radial epiphyses...	ORPHA:166002
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:612463
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B...	ORPHA:1473
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Tooth malposition, A...	ORPHA:2712
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Short philtrum, Conductive hearing impairment, Thick upper lip vermilio...	OMIM:186500
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Triploidy	Low-set, posteriorly rotated ears, Cataract, Intestinal malrotation, Micrognathia, Hydrocephalus,...	ORPHA:3376
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met...	OMIM:602875
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re...	OMIM:616108
Pde4D Haploinsufficiency Syndrome	Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper limb...	ORPHA:439822
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Sensorineural hearing impairment,...	OMIM:609616
Distal Deletion 10Q	Pes planus, Scapular winging, Sandal gap, Single transverse palmar crease, Ataxia, Tapered finger...	ORPHA:96148
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Epicanthus, Congenital hip dislocation, Anteverted nares, Prominence of ...	ORPHA:2412
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Chorioretinal dysplasia, Chorioretinal lacunae, Deep philtrum, Protruding ...	OMIM:152950
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Telecanthus, Depressed nasal bridge, Craniosyno...	ORPHA:2117
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal	ORPHA:2489
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Marinesco-Sjögren Syndrome	Short palm, Ataxia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fin...	ORPHA:559
Holoprosencephaly	Anophthalmia, Synophrys, Deep philtrum, Depressed nasal ridge, Absent nares, Holoprosencephaly, C...	ORPHA:2162
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Jacobsen Syndrome	Micrognathia, Microcornea, Eyelid coloboma, Holoprosencephaly, Chorioretinal coloboma, Iris colob...	OMIM:147791
Nail-Patella Syndrome	Keratoconus, Ptosis, Cataract, Spina bifida, Cleft upper lip, Sensorineural hearing impairment, P...	OMIM:161200
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Fusion of the cerebellar hemispheres, Agenesis of cerebella...	ORPHA:59315
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Retinal detachment, Cataract, Optic nerve hypoplasia, Hearing impairment, ...	OMIM:620157
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Astigmatism, Everted l...	OMIM:614753
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Broad radial meta...	ORPHA:99642
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal m...	ORPHA:1307
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Temtamy Syndrome	Telecanthus, Convex nasal ridge, Micrognathia, Thick lower lip vermilion, Low-set ears, Chorioret...	ORPHA:1777
Stickler Syndrome Type 1	Retinal detachment, Cataract, Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing im...	ORPHA:90653
Ring Chromosome 14 Syndrome	Epicanthus, Anteverted nares, Depressed nasal bridge, Almond-shaped palpebral fissure, Depressed ...	OMIM:616606
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,...	OMIM:167730
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Dental malocclusion, ...	OMIM:608940
Recon Progeroid Syndrome	Attached earlobe, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow ...	OMIM:620370
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Wide nose, Cataract, Corneal opacity, Telecanthus, Abnormality of cartilage o...	ORPHA:2399
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Short palm, Waddling gait, Cerebellar vermis hypoplasia, Broad palm, Short foot, Tip-toe gait, Ga...	OMIM:614563
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia	ORPHA:294975
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Cerebellar vermis hypoplasia, Micromelia, Short phalanx of finger, Brachydactyly	OMIM:600092
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Waddling gait, Pes planus, Short metacarpal, Camptodactyly of finger, Tapered finger, Thenar musc...	OMIM:612350
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous...	OMIM:600384
Pierpont Syndrome	Wide nose, Telecanthus, Posteriorly rotated ears, Broad nasal tip, Long upper lip, Unilateral nar...	OMIM:602342
Bartsocas-Papas Syndrome 2	Corneal opacity, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital ptery...	OMIM:619339
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Underdeveloped superior crus of antihelix, Highly arched eyebrow, Micrognathia, Congenital sensor...	ORPHA:293967
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Abnormality of the malleus, Triphalangeal th...	ORPHA:949
Stapes Ankylosis With Broad Thumbs And Toes	Stapes ankylosis, Underdeveloped nasal alae, Long nose, Congenital stapes ankylosis, Proximal/mid...	OMIM:184460
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Dandy-Walker malformation	ORPHA:2611
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Abnormal pelvic girdle bone morp...	OMIM:157900
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Warburg Micro Syndrome 1	Anteverted nares, Micrognathia, Optic atrophy, Wide nasal bridge, Developmental cataract, Microco...	OMIM:600118
Microphthalmia, Syndromic 13	Anteverted ears, Widely-spaced incisors, Microcornea, Chorioretinal coloboma, Microphthalmia, Iri...	OMIM:300915
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Spondylometaphyseal Dysplasia, A4 Type	Short palm, Micromelia, Coxa vara	ORPHA:168555
Aarskog-Scott Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Genu ...	ORPHA:915
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Pain insensitivity, Short toe, Short phalanx of finger...	OMIM:600430
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Intellectual Disability, Birk-Barel Type	Narrow nasal bridge, Tented upper lip vermilion, Highly arched eyebrow, Broad nasal tip, Microgna...	ORPHA:166108
Scholte Syndrome	Cerebellar atrophy, Acromicria, Small hand, Patellar hypoplasia, Short foot	OMIM:300977
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Short toe, Broad foot, Brachydactyly	ORPHA:3085
Branchio-Oculo-Facial Syndrome	Deep philtrum, Orofacial cleft, Microcornea, Coloboma, Premature graying of hair, High palate, Co...	ORPHA:1297
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog...	ORPHA:1836
Proboscis Lateralis	Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Orofacial cleft, Microcor...	ORPHA:141099
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Facial palsy, Curly eyelashes, Prominent nose, ...	OMIM:301022
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Thick upper lip vermilion, Bifid uvula...	OMIM:154780
Pierpont Syndrome	Thin upper lip vermilion, Telecanthus, Posteriorly rotated ears, Wide nasal ridge, Uplifted earlo...	ORPHA:487825
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Encephaloc...	OMIM:108720
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal	ORPHA:261524
Lambotte Syndrome	Telecanthus, Retrognathia, Atresia of the external auditory canal, Narrow mouth, Ocular anterior ...	OMIM:245552
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Epicanthus, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia,...	ORPHA:163649
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Cataract, Anteverted nares, Micrognathia, Microdontia, Knee flexion contracture, Upsla...	OMIM:619694
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Hypoplasia of the odontoid process, Small hand, Cone-shaped epi...	ORPHA:85172
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Limited wrist extension, Blepharoph...	OMIM:108145
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Upper limb amyotrophy, Knee flexion ...	ORPHA:496689
Microtriplication 11Q24.1	Joint dislocation, Keratoconus, Wide nose, Attached earlobe, Posteriorly rotated ears, Smooth phi...	ORPHA:289522
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Coxa vara, Abnormal hip joint morphology, Arthralgia of the hip, Abnormal ace...	ORPHA:166011
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Spondyloepiphyseal Dysplasia, Kimberley Type	Flat capital femoral epiphysis, Platyspondyly, Genu varum, Genu valgum	OMIM:608361
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Aicardi Syndrome	Intestinal polyposis, Retinal detachment, Abnormality of retinal pigmentation, Prominence of the ...	ORPHA:50
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Anteverted nares, B...	OMIM:612530
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Retina...	ORPHA:324416
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Schmorl's node, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr...	OMIM:604864
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Microphthalmia, Orbital cyst	OMIM:251505
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Epicanthus, Cataract, Cleft lip, Bulbous nose, Deep philtrum, Wide nasal bridg...	OMIM:618571
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma, H...	OMIM:120433
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, High palate, Chronic otitis me...	OMIM:614188
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Spondylocamptodactyly Syndrome	Platyspondyly, Camptodactyly of finger, Scoliosis	ORPHA:3180
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Hydrocephalus, Neonatal epiphyseal stippling, Short metatarsal, ...	OMIM:101800
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora...	ORPHA:77258
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Ataxia, Inability to walk, Cerebellar hypoplasia, Talipes equinovarus, Campto...	OMIM:616354
Cohen Syndrome	Abnormal eyelid morphology, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Abnorma...	ORPHA:193
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Epicanthus, Posteriorly rotated ears, Dental ...	ORPHA:2789
Alg6-Cdg	Ataxia, Cerebellar hypoplasia, Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys...	ORPHA:2631
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Epiphyseal stippling, Talipes equinovarus, Cerebellar hypoplasia, Short distal ...	ORPHA:86822
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears, Narrow mouth, C...	OMIM:202650
Marshall-Smith Syndrome	Irregular dentition, Synophrys, Anteriorly placed anus, Glossoptosis, Choanal stenosis, High pala...	OMIM:602535
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Platyspondyly, Delayed ossification of carpal bones, I...	OMIM:617974
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Split foot, Malar flattening	OMIM:183700
Periventricular Nodular Heterotopia 1	Syndactyly, Clinodactyly, Cerebellar hypoplasia, Short finger	OMIM:300049
49,Xxxxy Syndrome	Delayed eruption of teeth, Mandibular prognathia, Wide nose, Epicanthus, Depressed nasal bridge, ...	ORPHA:96264
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Ramon Syndrome	Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology...	ORPHA:3019
Warburg-Cinotti Syndrome	Dental crowding, High palate, Conductive hearing impairment, Wrist flexion contracture, Symblepha...	OMIM:618175
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Cyclopia, Abnormal cran...	ORPHA:990
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Synophrys, Wide nasal bridge, Gingival overgrowth, Downturned...	OMIM:618729
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Metatarsus adductus, Elbow dislocation,...	ORPHA:2249
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Temtamy Syndrome	Dental crowding, Convex nasal ridge, Highly arched eyebrow, Lens luxation, Ectopia lentis, Lop ea...	OMIM:218340
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Abnormal retinal va...	ORPHA:791
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Nance-Horan Syndrome	Prominent nasal bridge, Prominent nose, Diastema, Developmental cataract, Microcornea, Screwdrive...	OMIM:302350
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Cataract, Microcornea, Upslanted palpebral fissure, High palate, Narrow mouth, Microp...	ORPHA:2528
Otodental Dysplasia	Delayed eruption of teeth, Anteverted nares, Agenesis of premolar, Sensorineural hearing impairme...	OMIM:166750
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Ptosis, Epicanthus, Exaggerated cupid's bow, Prominent nasal bridge, Hearing impairment, Microgna...	OMIM:618659
20Q11.2 Microdeletion Syndrome	Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	ORPHA:444051
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Waddling gait, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal,...	OMIM:614813
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Single transverse palmar crease, Met...	OMIM:123450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Waddling gait, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Anteriorly placed anus, Choanal stenosis, High palate, ...	ORPHA:798
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Bilateral coxa valga, Platyspondyly, Abnormal vertebral morphology, Abnormal ilium morphology	ORPHA:163665
Baraitser-Winter Syndrome 2	Ptosis, Telecanthus, Thin upper lip vermilion, Abnormal pinna morphology, Highly arched eyebrow, ...	OMIM:614583
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Aqueductal stenosis, Absent radius, Micrognathia, Humeroradial synostos...	OMIM:251230
3Mc Syndrome 2	Ptosis, Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow mov...	OMIM:265050
Joubert Syndrome 14	Encephalocele, Epicanthus, Tented upper lip vermilion, Posteriorly rotated ears, Prominent nasal ...	OMIM:614424
Steinfeld Syndrome	Abnormal pinna morphology, Hearing impairment, Bifid uvula, Retinal coloboma, Aplasia of the nose...	OMIM:184705
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Micrognathia, Anteverted ears, Bulbous nose, Deep philtrum,...	OMIM:613884
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Chiari t...	ORPHA:166035
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi...	OMIM:612847
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Posteriorly rotated ears, Cleft palate, Thin vermilion border, Long eyelashes, Low-se...	OMIM:615502
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, High palate, Thick upper lip vermilion, ...	ORPHA:560
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
2q37 monosomy	Brachydactyly	DECIPHER:44
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	ORPHA:2438
Czech Dysplasia	Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ...	OMIM:609162
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl...	OMIM:609166
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Halberd-shaped pelvis, Narrow greater sciati...	OMIM:156530
Second Metatarsal-Metacarpal Syndrome	Platyspondyly, Abnormal metacarpal morphology	OMIM:269630
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Ataxia, Inability to walk, Dysmetria, Cerebellar hypoplasia, Clinodactyly, Cerebellar...	OMIM:618087
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes planus, Sandal gap, Small hand, Gait ataxia, Short foot, Pes cavus, Cerebellar vermis atrophy...	OMIM:300354
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly	ORPHA:1937
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Aminopterin/Methotrexate Embryofetopathy	Low-set, posteriorly rotated ears, Encephalocele, Epicanthus, Mandibular prognathia, Micrognathia...	ORPHA:1908
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Peroxisome Biogenesis Disorder 12A (Zellweger)	Epicanthus, Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent n...	OMIM:614886
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Alobar holoprosencephaly, High palate, Short philtrum, Low-set ears, Macrotia, Downsl...	OMIM:615433
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Abnormality of t...	OMIM:300244
Nance-Horan Syndrome	Mandibular prognathia, Retinal detachment, Cataract, Prominent nasal bridge, Prominent nose, Abno...	ORPHA:627
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal, Small hand, S...	OMIM:170390
Abruzzo-Erickson Syndrome	Cleft palate, Protruding ear, Coloboma, Radioulnar synostosis, Macrotia, Hearing impairment	OMIM:302905
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Synophrys, Op...	OMIM:618737
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Hydranencephaly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneou...	OMIM:236500
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, De...	OMIM:229200
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentation of the retina, Mesoaxia...	OMIM:615994
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hear...	OMIM:610023
16P13.11 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Depressed nasal bridge, Anteverted nares, Camptodactyl...	ORPHA:261236
Branchiogenic Deafness Syndrome	Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali...	ORPHA:50815
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Pes planus, Inability to walk, Calcaneovalgus deformity, Unsteady gait, Dysme...	ORPHA:93952
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Frontorhiny	Low-set, posteriorly rotated ears, Encephalocele, Epicanthus, Cataract, Camptodactyly of finger, ...	ORPHA:391474
Cerebrooculofacioskeletal Syndrome 3	Low-set ears, Microphthalmia, Cleft palate, Micrognathia	OMIM:616570
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Prominent nose, Micrognathia, Optic atrophy, Microc...	OMIM:616171
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Scoliosis, Clinodactyly of the 5th finger, Hearing im...	ORPHA:376
Melanocytic Nevus Syndrome, Congenital	Congenital giant melanocytic nevus, Prominence of the premaxilla, Anteverted nares, Narrow nasal ...	OMIM:137550
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Smith-Mccort Dysplasia 1	Waddling gait, Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, H...	OMIM:607326
Trisomy 13	Cataract, Anophthalmia, Median cleft lip, Abnormality of the dentition, Abnormal retinal vascular...	ORPHA:3378
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Keratitis, Hypoplasia of the m...	OMIM:123500
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hydrocephalus, Chiari malformation, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the cer...	ORPHA:93262
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Epicanthus, Highly arched eyebrow, Wide nasa...	OMIM:618804
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Short finger, Brachydactyly	OMIM:103580
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Oligodontia, Prominence of the zygomatic bone, Small earlo...	ORPHA:364577
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Epicanthus, Anteverted nares, Highly arched eyebrow, Cleft upper lip, S...	OMIM:243310
Symphalangism, Proximal, 1A	Stapes ankylosis, Tarsal synostosis, Metacarpophalangeal synostosis, Conductive hearing impairmen...	OMIM:185800
Joubert Syndrome 23	Polydactyly, Cerebellar dysplasia	OMIM:616490
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract, Genu valgum, Anal atresia, Abnormal palate morphology	ORPHA:1381
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Unsteady gait, Small hand, Ankle clonus, Short foot, Cerebellar vermis atrophy	OMIM:617435
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Anterior encephalocele, Coloboma, H...	OMIM:601357
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Abnormality of r...	ORPHA:192
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Gapo Syndrome	Micrognathia, High, narrow palate, Protruding ear, Eruption failure, Megalocornea, Keratoconus, A...	OMIM:230740
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Short neck, Micrognathia, Hypoplasia of...	OMIM:264180
Jeune Syndrome	Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Post...	ORPHA:474
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Genu valgum	OMIM:184095
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Eyelid coloboma, Hypoplasia of the semicircular canal, Holopro...	ORPHA:138
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Trichorhinophalangeal Syndrome, Type I	Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha...	OMIM:190350
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
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Anteverted nare...	ORPHA:2510
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cleft hard palate, ...	ORPHA:250999
Holoprosencephaly 2	Aplasia of the nasal bone, Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Pr...	OMIM:157170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Retinal dysplasia, Megalocornea, Retinal atrophy...	OMIM:236670
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Narrow nasal bridge, Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Elbow dislo...	ORPHA:3236
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ...	OMIM:611717
Hydrocephalus-Obesity-Hypogonadism Syndrome	Cubitus valgus, Hydrocephalus, Short 4th metacarpal	ORPHA:2183
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Monosomy 13Q14	Epicanthus, Cataract, Prominent nasal bridge, Micrognathia, Wide nasal bridge, Protruding ear, Ho...	ORPHA:1587
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Aqueductal stenosis, Hand oligodactyly, Abnormal form of th...	ORPHA:1788
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of...	ORPHA:444002
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola...	ORPHA:2972
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Platyspondyly, Herniation of intervertebral nuc...	OMIM:601216
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigme...	OMIM:204000
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Conductive h...	ORPHA:861
Chst3-Related Skeletal Dysplasia	Waddling gait, Short metacarpal, Rhizomelia, Abnormality of the elbow, Genu valgum, Irregular epi...	ORPHA:263463
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Bifid ...	OMIM:200990
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Branchiootic Syndrome	Branchial fistula, Abnormal nasolacrimal system morphology, Facial palsy, Lip pit, Micrognathia, ...	ORPHA:52429
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Exaggerated cupid's bow, Sclerocornea, Underdeveloped nasal alae, Micrognat...	OMIM:614230
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Gait dis...	ORPHA:2900
Distal Deletion 13Q	Encephalocele, Optic atrophy, Anencephaly, Holoprosencephaly, Aplasia/Hypoplasia affecting the ey...	ORPHA:1590
Braddock-Carey Syndrome 2	Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory c...	OMIM:619981
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finge...	ORPHA:306542
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Smith-Lemli-Opitz Syndrome	Sclerocornea, Micrognathia, Holoprosencephaly, Advanced eruption of teeth, Iris coloboma, Low-set...	ORPHA:818
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morpholog...	ORPHA:1803
Neuroocular Syndrome	Genu recurvatum, Synophrys, Lens coloboma, Microcornea, Downturned corners of mouth, Widely space...	OMIM:619539
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle...	OMIM:618853
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation, Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
Aicardi Syndrome	Retinal detachment, Prominence of the premaxilla, Cataract, Block vertebrae, Anteverted nares, Sp...	OMIM:304050
Walker-Warburg Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Poster...	ORPHA:899
Roifman-Chitayat Syndrome	Cone-shaped epiphysis, Umbilical hernia, Short metacarpal, Short metatarsal	OMIM:613328
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co...	OMIM:600593
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Cerebellar vermis hypoplasia, Broad hallux, Clinodactyly of the 2nd toe, Coxa v...	OMIM:620073
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Hypopigmented skin patches, Palmoplantar...	ORPHA:2251
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, Sensorineur...	ORPHA:90354
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Mandibular prognathia, Lumbar hyperlordosis, Posteriorly rotated ears, Rhizomelia, Short neck, Me...	OMIM:612813
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Median cleft palate	ORPHA:2432
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf...	OMIM:620107
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq...	OMIM:271630
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Protruding ear, Low-s...	ORPHA:85284
Osteoglophonic Dysplasia	Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi...	OMIM:166250
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,...	ORPHA:85167
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysi...	ORPHA:166272
Xq21 Microdeletion Syndrome	Stapes ankylosis, Abnormal chorioretinal morphology, Chorioretinal degeneration, Dilatated intern...	ORPHA:1435
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Filippi Syndrome	Cerebellar atrophy, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndactyly, Fi...	OMIM:272440
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas...	ORPHA:649
Frontofacionasal Dysplasia	Depressed nasal ridge, Microcornea, Limbal dermoid, Iris coloboma, Encephalocele, Depressed nasal...	ORPHA:1791
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Pes planus, Single transverse palmar crease, Monkey wrenc...	OMIM:615777
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holopro...	ORPHA:77298
8Q21.11 Microdeletion Syndrome	Sclerocornea, Micrognathia, Downturned corners of mouth, High palate, Short philtrum, Iris hypopi...	ORPHA:284160
Mandibulofacial Dysostosis With Alopecia	Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of...	OMIM:616367
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Abnormal optic disc mo...	ORPHA:65
Stickler Syndrome, Type Ii	Arthropathy, Retinal detachment, Cataract, Depressed nasal bridge, Anteverted nares, Micrognathia...	OMIM:604841
Stromme Syndrome	Cataract, Jejunal atresia, Prominent nasal bridge, Optic nerve hypoplasia, Intestinal malrotation...	OMIM:243605
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Microcornea, High palate, Conductive hearing impairment,...	OMIM:201000
Mulibrey Nanism	Wide nose, Depressed nasal bridge, Corneal dystrophy, Dental crowding, Absent frontal sinuses, En...	OMIM:253250
Intellectual Developmental Disorder, Autosomal Recessive 67	Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears	OMIM:618295
Spondylometaphyseal Dysplasia, Kozlowski Type	Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce...	OMIM:184252
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, High palate, Ocular anterior segment dysgenesis, Dep...	OMIM:612582
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperpigmentation of the skin, Selective tooth agenesis, Conical tooth, Absent ...	OMIM:106260
Warburg Micro Syndrome 3	Cataract, Micrognathia, Optic atrophy, Narrow palate, Developmental cataract, Ankle clonus, Micro...	OMIM:614222
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Waddling gait, R...	OMIM:300106
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Axenfeld-Rieger Syndrome	Anal stenosis, Telecanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormal anterior ...	ORPHA:782
Neurooculocardiogenitourinary Syndrome	Epicanthus, Prominent nasal bridge, Sensorineural hearing impairment, Downturned corners of mouth...	OMIM:618652
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:612462
8Q22.1 Microdeletion Syndrome	Telecanthus, Underfolded helix, Camptodactyly of finger, Craniosynostosis, Abnormal pinna morphol...	ORPHA:178303
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p...	OMIM:610954
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Synophrys, Hydrocephalus, Wide nasal bridge, Protruding ear, Narrow pa...	OMIM:618302
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ...	ORPHA:1248
Microform Holoprosencephaly	Narrow nasal bridge, Tented upper lip vermilion, Midnasal stenosis, Anteverted nares, Choanal atr...	ORPHA:280200
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Depressed nasal bridge, Optic atrophy, Abnormality of skin pigmentation, Coloboma, Low-...	OMIM:612379
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Stickler Syndrome, Type I	Arthropathy, Retinal detachment, Cataract, Anteverted nares, Depressed nasal bridge, Micrognathia...	OMIM:108300
Cat-Eye Syndrome	Chorioretinal coloboma, Microphthalmia, Downslanted palpebral fissures, Iris coloboma, Anal atres...	ORPHA:195
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Short hallux, Cerebellar hypoplasia, Abnormal metacarpal morph...	ORPHA:3224
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Enlarged epiphyses, Epiphyseal dysplasia, Sensorineural hearing impairment, Platyspondyly, Malar ...	OMIM:184840
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Micrognathia...	ORPHA:1427
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Hyperlordosis, Hypoplasia of the odontoid process, Cli...	OMIM:184250
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, Sensorineural hearing impairment, Split hand, 4-5...	OMIM:616890
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Waddling gait, Short thumb, Broad hallux, Brachydactyly	OMIM:165800
Mohr Syndrome	Short palm, Syndactyly, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Posta...	OMIM:252100
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Low-se...	OMIM:615145
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Depressed nasal bridge, Choanal atresia, Hypopl...	ORPHA:87
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Kapur-Toriello Syndrome	Posteriorly rotated ears, Intestinal malrotation, Bulbous nose, Orofacial cleft, Retinal coloboma...	ORPHA:2328
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Carious teeth, Flared metaphysis, Hypoplastic pubic ...	ORPHA:93346
Dysspondyloenchondromatosis	Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Vertebral segmentation defect, Platyspon...	ORPHA:85198
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ptosis, Epicanthus, Anteverted nares, Choanal atresia, Microgn...	ORPHA:494344
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Irregular acetabular roof, Irregular iliac crest, Abnormality of the epiph...	ORPHA:93316
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Limb undergrowth, Limited elbow extension, Bowing of the legs	ORPHA:156728
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Abnormal helix morphology, ...	ORPHA:1259
Srd5A3-Cdg	Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Oligodontia, Spotty hyperpigmentation, ...	ORPHA:324737
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Posteriorly rotated ears, Micrognathia, Congenital sensorineural hearing impairment, Mi...	OMIM:617306
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Sensorineural hearing impairment, Cone-shaped epiphysis, Platyspondyly...	ORPHA:71267
Chromosome 22Q11.2 Duplication Syndrome	Epicanthus, Abnormal pinna morphology, Micrognathia, Velopharyngeal insufficiency, Depressed nasa...	OMIM:608363
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta...	ORPHA:973
Van Maldergem Syndrome 1	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio...	OMIM:601390
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Gait ataxia, Talipes equinovarus, Pes cavus	OMIM:233400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Postaxial hand polydactyly, Hydrocephalus, Cone-shaped epiphyses of...	OMIM:615630
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Atkin-Flaitz Syndrome	Anteverted nares, Abnormality of the dentition, Broad nasal tip, Everted lower lip vermilion, Thi...	ORPHA:1193
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Femoral bowing, Narrow pelvis bone, S...	OMIM:616723
Adams-Oliver Syndrome 2	Depressed nasal bridge, Micrognathia, Bulbous nose, Hydrocephalus, Optic atrophy, Protruding ear,...	OMIM:614219
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Abnormal verteb...	ORPHA:166024
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Low-set, posteriorly rotated ears, Wide nose, Cataract, Corneal opacity, Ep...	ORPHA:1052
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Camptodactyly	OMIM:246560
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted nares, Tented upper lip vermilion, ...	ORPHA:438216
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Camptodactyly of finger, Micrognathia, Holoprosencephaly, Low-set ears, Blepharo...	ORPHA:2570
Spondyloepiphyseal Dysplasia, Kimberley Type	Abnormal epiphysis morphology, Micromelia	ORPHA:93283
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Epicanthus, Camptodactyly of finger, Micrognathia, Bulbous nose, Optic d...	ORPHA:251014
Monosomy 5P	Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Short neck, Small hand, ...	ORPHA:281
Focal Dermal Hypoplasia	Linear hyperpigmentation, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot...	OMIM:305600
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypop...	ORPHA:2662
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Synophrys, Wide nasal bridge, Downturned corners of mouth, Wide mouth, ...	OMIM:618067
Waardenburg Syndrome, Type 3	Scapular winging, Partial albinism, Camptodactyly of finger, Blue irides, Hypopigmented skin patc...	OMIM:148820
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Mucopolysaccharidosis Type 2, Severe Form	Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Papilledema, Abnormal d...	ORPHA:217085
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Papilledema, Abnormality of retinal pigmentation, Wide nose, Corneal...	ORPHA:580
Microphthalmia, Lenz Type	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Cataract, Abnormal dental morpholog...	ORPHA:568
Ring Chromosome 21 Syndrome	Syndactyly, Small hand, Narrow palm, Gait disturbance, Holoprosencephaly, Multiple cafe-au-lait s...	ORPHA:1445
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Coxa vara, Cone-s...	ORPHA:63446
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Scoliosis, Spina bifida oc...	ORPHA:64754
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Intestinal malrotation, Cleft upper lip, Bulbous nose, Cleft p...	OMIM:244300
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Van Maldergem Syndrome 2	Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Anterio...	OMIM:615546
Cleidocranial Dysplasia 2	Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m...	OMIM:620099
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Sensorineural hearing impairment, 2-3 finger syndac...	ORPHA:3152
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Al-Raqad Syndrome	Sandal gap, Inability to walk, Gait ataxia, Hypopigmentation of the skin, Brachydactyly	OMIM:616459
Skraban-Deardorff Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Absent cupid's bow, Cleft palate, Hyperpl...	OMIM:617616
Mucopolysaccharidosis Type 2, Attenuated Form	Increased size of nasopharyngeal adenoids, Conductive hearing impairment, Papilledema, Abnormal d...	ORPHA:217093
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the h...	ORPHA:2496
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap...	OMIM:619598
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Conductive hearing impairment, Microdontia, Abnormal s...	ORPHA:2363
Optic Atrophy-Intellectual Disability Syndrome	Keratoconus, Epicanthus, Anteverted nares, Optic disc hypoplasia, Optic nerve hypoplasia, Promine...	ORPHA:401777
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Glue ear, Short foot, Clinodactyly of the 5th finger, Low-set ears, Recurrent otitis media, Umbil...	OMIM:619758
Refsum Disease, Classic	Short fourth metatarsal, Pes cavus, Somatic sensory dysfunction, Ataxia	OMIM:266500
20P12.3 Microdeletion Syndrome	Epicanthus, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, M...	ORPHA:261295
Halperin-Birk Syndrome	Micrognathia, Optic atrophy, Hip dislocation, Developmental cataract, Semilobar holoprosencephaly...	OMIM:618651
Bosma Arhinia Microphthalmia Syndrome	Cataract, Abnormal pinna morphology, Choanal atresia, Absent tragus, Paranasal sinus hypoplasia, ...	OMIM:603457
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed anus, High palate,...	OMIM:211380
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Mixed hearing impairment, Lumbar hyperlordosis, Large tarsal bones, Microgn...	OMIM:215150
Trichothiodystrophy 9, Nonphotosensitive	Ataxia, Brachydactyly	OMIM:619692
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly	ORPHA:221054
Intellectual Developmental Disorder, Autosomal Dominant 2	Prominent fingertip pads, Cholesteatoma	OMIM:614113
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Genu valgum, Irregular vert...	ORPHA:250984
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Vertebral wedging, Platyspondyly, Abnormal pelvic girdle...	OMIM:610967
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Enl...	OMIM:208230
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Abnormalit...	ORPHA:2619
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Microcephaly-Albinism-Digital Anomalies Syndrome	Iris hypopigmentation, Micrognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypo...	ORPHA:2513
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Hypopla...	OMIM:234250
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Hypermelanotic macule, Hydrocephalus, Chiari malformation, Han...	ORPHA:60040
Acitretin/Etretinate Embryopathy	Epicanthus, Aplasia/Hypoplasia of the maxilla, Anteverted nares, Abnormal retinal morphology, Mic...	ORPHA:40366
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metacarpal	OMIM:619638
Peroxisomal Acyl-Coa Oxidase Deficiency	Depressed nasal bridge, Optic atrophy, Wide nasal bridge, Pigmentary retinopathy, Bilateral senso...	OMIM:264470
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Coloboma, Microphthalmia	OMIM:613153
Donnai-Barrow Syndrome	Retinal detachment, Depressed nasal bridge, Retinal dystrophy, Intestinal malrotation, Posteriorl...	ORPHA:2143
Rubinstein-Taybi Syndrome 1	Dental crowding, Prominent nose, Micrognathia, High, narrow palate, Hypoplasia of the maxilla, Co...	OMIM:180849
Nager Syndrome	Low-set, posteriorly rotated ears, Ptosis, Sparse lower eyelashes, Micrognathia, Abnormal nasal m...	ORPHA:245
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Protruding ear, Talipes equin...	ORPHA:85279
Charcot-Marie-Tooth Disease, Type 4B3	Pes planus, Syndactyly, Distal sensory impairment, Gait disturbance, Loss of ambulation, Distal l...	OMIM:615284
Thrombocytopenia-Absent Radius Syndrome	Cerebellar vermis hypoplasia, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal...	OMIM:274000
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Freckling, Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Micrognathia, Brushfield spots, Optic nerve dysplasia, Cle...	OMIM:214110
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Frontofacionasal Dysplasia	Ankyloblepharon, Orofacial cleft, Microcornea, Eyelid coloboma, Bifid uvula, Iris coloboma, Hypop...	OMIM:229400
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Telecanthus, Hypoplasia of the maxilla, Hydrocephalus, Wide...	OMIM:601499
Oculodentodigital Dysplasia	Selective tooth agenesis, Uveitis, Microcornea, High palate, Joint contracture of the 5th finger,...	OMIM:164200
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Cerebellar hypoplasia, Broad distal phalanx of finger, Broad thumb, Brachydac...	OMIM:617763
3Q29 Microduplication Syndrome	Cataract, Craniosynostosis, Sclerocornea, Abnormality of the dentition, Deep philtrum, Wide nasal...	ORPHA:251038
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical...	ORPHA:65759
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max...	ORPHA:397973
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Posteriorly rotated e...	OMIM:600325
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, High palate, Exaggerated median...	OMIM:608670
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Opt...	ORPHA:370959
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Short m...	OMIM:602849
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Inability to walk, Chorea, Gait ataxia, Talipes equinovarus	OMIM:618917
Trisomy 8P	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Recurrent uppe...	ORPHA:264450
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly	OMIM:612626
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Genu recurvatum, Uplifted earlobe, Narrow palate, Short upper lip, Macrodo...	ORPHA:364028
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Pallister-Hall Syndrome	Natal tooth, Depressed nasal bridge, Choanal atresia, Anteverted nares, Posteriorly rotated ears,...	OMIM:146510
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Micrognathia, Lens coloboma, Cupped ear, Joint contracture of the 4th fing...	OMIM:618914
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Mixed hearing impairment, Long eyebrows, Cleft upper lip, Op...	OMIM:201180
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Bor Syndrome	Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ...	ORPHA:107
Gapo Syndrome	Delayed eruption of teeth, Keratoconus, Mandibular prognathia, Anteverted nares, Depressed nasal ...	ORPHA:2067
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Cataract, Prominent nasal bridge, Prominent nose, Micrognathia, Cariou...	OMIM:214150
Dubowitz Syndrome	Micrognathia, Protruding ear, Hypoplasia of the iris, High palate, Otitis media, Megalocornea, Ir...	OMIM:223370
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:1647
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Telecanthus, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Sens...	OMIM:109120
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Thanatophoric Dysplasia, Glasgow Variant	Micromelia	OMIM:273680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Sensorineural hearing impairment, Hydrocephalus, Coloboma, Micr...	OMIM:615249
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Low hanging columella, Bilateral microphthalmos, Unilateral microphthalmos, Co...	OMIM:619318
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Cleft palate, Holoprosencephaly, Low-set ears, Cyclopia	ORPHA:2165
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Cleft upper li...	OMIM:147250
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Depressed nasal bridge, Prominent crus ...	ORPHA:794
Lateral Meningocele Syndrome	Vertebral fusion, Telecanthus, Posteriorly rotated ears, Dental crowding, Abnormality of the midd...	OMIM:130720
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognathia, Hydrocephalus, Bi...	ORPHA:2839
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Micrognathia, Prominent nose, High palate, Chorioretinal coloboma, Macrotia, Hyperplasia of the m...	OMIM:620194
Meckel Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Cataract, Abnormal chorioretinal morphology, Ap...	ORPHA:564
Joubert Syndrome 30	Cerebellar atrophy, Postaxial hand polydactyly, Superior cerebellar dysplasia, Dandy-Walker malfo...	OMIM:617622
Refsum Disease	Abnormality of retinal pigmentation, Short metacarpal, Ataxia, Abnormal foot morphology, Hammerto...	ORPHA:773
Laurence-Moon Syndrome	Finger syndactyly, Ataxia, Bilateral single transverse palmar creases, Hand polydactyly, Brachyda...	ORPHA:2377
Summitt Syndrome	Syndactyly	OMIM:272350
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Anteverted nares, Genu recurvatum, Broad nasal tip, Thick lower...	OMIM:300602
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Coffin-Siris Syndrome 2	Sandal gap, Cerebellar hypoplasia, Short distal phalanx of finger, Dandy-Walker malformation, Bra...	OMIM:614607
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fourth metatarsal, Short fifth metatarsal, 2-3 toe syndactyly, Increased carrying angle, Cl...	OMIM:261990
Neuhauser Syndrome	Iridodonesis, Epicanthus, Depressed nasal bridge, Genu recurvatum, Micrognathia, Cupped ear, Wide...	OMIM:249310
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Carey-Fineman-Ziter Syndrome 2	Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Dental crowding, Underdevel...	OMIM:619941
Johnson Neuroectodermal Syndrome	Absent eyebrow, Choanal atresia, Facial palsy, Absent eyelashes, Carious teeth, Bulbous nose, Ano...	ORPHA:2316
Martsolf Syndrome 1	Epicanthus, Cataract, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Microgna...	OMIM:212720
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Epiphyseal stippling, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metap...	ORPHA:177
15Q24 Microdeletion Syndrome	Smooth philtrum, Broad eyebrow, Epicanthus, Depressed nasal bridge, Prominent nasal bridge, Heari...	ORPHA:94065
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Intestinal obstruction, Abnormal eyebrow morphology, Agangli...	ORPHA:897
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Platyspondyly, Flattened metacarpal heads	OMIM:271600
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Micrognathia, Wide nasal bridge, Downturned corners of mouth, Short philtrum, Low-set e...	ORPHA:93267
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyly, Split foot, Cut...	DECIPHER:46
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Cataract, Posteriorly rotated ears, Facial palsy, Microgna...	ORPHA:2780
Diprosopus	Abnormality of retinal pigmentation, Abnormality of the nose, External ear malformation, Non-midl...	ORPHA:1681
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly	ORPHA:588
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Brachydactyly, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Synophrys, Deep philtrum, Protruding ear, Short philtrum, Joint contracture of the 5th finger, De...	OMIM:620098
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Cataract, Depressed nasal bridge, Anteverted nares, Tented upper lip vermilion, Retin...	OMIM:614105
Microcephaly-Cardiomyopathy Syndrome	Abnormality of retinal pigmentation, Abnormality of the outer ear, High, narrow palate	ORPHA:2515
Ring Chromosome 7 Syndrome	Unilateral ptosis, Mandibular prognathia, Abnormality of skin pigmentation, Short philtrum, Holop...	ORPHA:1449
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd...	OMIM:601358
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, Micrognathia, Bowing of th...	OMIM:255800
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol...	ORPHA:2511
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing	ORPHA:1858
Uruguay Faciocardiomusculoskeletal Syndrome	Wide nose, Congenital hip dislocation, Posteriorly rotated ears, Limited elbow movement, Prominen...	OMIM:300280
Anauxetic Dysplasia 1	Mandibular prognathia, Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic...	OMIM:607095
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Short metatarsal, Paresthesia, Short 3rd metacarpal, Br...	ORPHA:79444
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, High, narrow palate, High palate, Anteverted nares, Brushfield spots, Wide anterior...	OMIM:214100
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Micrognathia, Hypoplasia of the maxilla, Wrist swelling, Osteolysis ...	OMIM:166300
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyse...	OMIM:300863
17Q24.2 Microdeletion Syndrome	Otosclerosis, Thin upper lip vermilion, Micrognathia, Synophrys, Tooth malposition, Wide nasal br...	ORPHA:529962
Coffin-Siris Syndrome 5	Sandal gap, Arachnodactyly, Cerebellar hypoplasia, Dandy-Walker malformation, Short distal phalan...	OMIM:616938
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Protruding ear,...	ORPHA:776
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Broad-based gait, Ataxia, Hypoplasia of the pons, Retrocerebellar cyst, Talipes equinovarus, Camp...	ORPHA:397709
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Prominent nose, Micrognathia, Diastema, Bulb...	OMIM:620185
Stevenson-Carey Syndrome	Anteverted nares, Posteriorly rotated ears, Underdeveloped nasal alae, Pierre-Robin sequence, Dow...	OMIM:611961
Ritscher-Schinzel Syndrome 1	Depressed nasal bridge, Micrognathia, Hydrocephalus, Cleft palate, Coloboma, Low-set ears, Downsl...	OMIM:220210
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Micrognathia, Hydrocephal...	ORPHA:3301
Pseudotrisomy 13 Syndrome	Encephalocele, Posteriorly rotated ears, Cleft upper lip, Hydrocephalus, Upslanted palpebral fiss...	OMIM:264480
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Spina bi...	ORPHA:1327
Usher Syndrome Type 1	Cataract, Abnormal dental enamel morphology, Sensorineural hearing impairment, Abnormal cochlea m...	ORPHA:231169
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Coloboma, Optic atrophy	OMIM:274270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Tibial bowing, Femoral bowing, Short ...	OMIM:304120
Zika Virus Disease	Optic disc hypoplasia, Ankle swelling, Macular atrophy, Wrist swelling, Retinal pigment epithelia...	ORPHA:448237
Pfeiffer Syndrome Type 2	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93259
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Hearing impairment, Alobar holop...	OMIM:301043
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Verheij Syndrome	Branchial cyst, Vertebral fusion, Thin upper lip vermilion, Anteverted nares, Optic nerve hypopla...	OMIM:615583
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec...	OMIM:113500
Zellweger Syndrome	Epicanthus, Cataract, Depressed nasal bridge, Abnormal chorioretinal morphology, Corneal opacity,...	ORPHA:912
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Cleft palate, An...	ORPHA:506353
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Missing ribs, Micrognathia, Flat acetabular roof, Large han...	ORPHA:1801
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Downturned corners of mouth, Bifid uvula, Depressed nasal bridge, An...	ORPHA:404440
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Severe sensorineural...	OMIM:620186
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Marden-Walker Syndrome	Epicanthus, Anteverted nares, Micrognathia, Wide anterior fontanel, High, narrow palate, Pyloric ...	OMIM:248700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Conductive hearing impairm...	OMIM:156550
Heart And Brain Malformation Syndrome	Attached earlobe, Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed n...	OMIM:616920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cataract, Malabsorption, Iridocyclitis, Keratoconjunctivitis, Perifoveal ring...	OMIM:240300
Oculodentodigital Dysplasia	Mandibular prognathia, Micrognathia, Abnormality of the ear, Microcornea, Conductive hearing impa...	ORPHA:2710
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmented skin pat...	ORPHA:1825
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Hydroc...	ORPHA:15
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Anteverted nares, Sparse eyelashes, Optic atrophy, Retrognathia, Hypoplasia of teeth,...	OMIM:234050
Pitt-Hopkins Syndrome	Pes planus, Ataxia, Single transverse palmar crease, Tapered finger, Broad fingertip, Short metat...	ORPHA:2896
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered finger, Flatte...	ORPHA:157965
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Epicanthus, Hyperextensibility of the knee, Ectopia lentis, Osteoarthritis, Ir...	OMIM:130000
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep...	ORPHA:1458
Acalvaria	Hydrocephalus, Spina bifida, Holoprosencephaly, Cleft palate	ORPHA:945
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Anophthalmia, Sclerocornea, Sensorineural hearing impairment, Microc...	ORPHA:139471
Mandibulofacial Dysostosis, Guion-Almeida Type	Epicanthus, Telecanthus, Anteverted nares, Choanal atresia, Micrognathia, Esophageal atresia, Dee...	OMIM:610536
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Microcornea, Widely-spaced...	OMIM:601349
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Cleft palate, Microco...	OMIM:156610
Combined Oxidative Phosphorylation Deficiency 47	Toe syndactyly, Posteriorly rotated ears, Short neck, Sensorineural hearing impairment, Platyspon...	OMIM:618958
Craniosynostosis 3	Hallux valgus, Single transverse palmar crease, Brachydactyly	OMIM:615314
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Micrognathia, Abnormal pupil morphology, Microcorne...	ORPHA:233
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Short foot, Short...	ORPHA:1001
Larsen Syndrome	Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dislocated wrist, Sh...	OMIM:150250
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod...	OMIM:300590
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu varum, Fibula...	OMIM:602557
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Optic disc coloboma, Cleft ...	ORPHA:1790
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ptosis, Epicanthus, Depressed nasal bridge, Bulbous nose, Bilateral microp...	ORPHA:369891
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund...	OMIM:613835
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Hydrocephalus, Wide nasal bridg...	OMIM:612651
Non-Distal Deletion 10Q	Brachydactyly, Ataxia, Gait disturbance, Clinodactyly of the 5th finger, Overlapping fingers, Bil...	ORPHA:1581
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Arboleda-Tham Syndrome	Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Conjunctivitis, Short philtr...	OMIM:616268
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Protrudi...	OMIM:261540
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Thoracic kyphoscoliosis, Carious teeth, Hip dislocation,...	OMIM:203550
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Microcephaly-Capillary Malformation Syndrome	Ptosis, Wide nose, Hypoplasia of the maxilla, Optic atrophy, Cleft palate, Low-set ears, Short no...	OMIM:614261
3-Methylglutaconic Aciduria, Type Iv	Single transverse palmar crease, Cerebellar dysplasia	OMIM:250951
Deafness, X-Linked 7	Ptosis, Telecanthus, Posteriorly rotated ears, Wide nasal bridge, Unilateral microphthalmos, Atre...	OMIM:301018
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, Coloboma, High palate, Short philtrum, Microdontia, Abnormality of...	ORPHA:251028
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Depressed nasal bridge, Highly arched eyebrow, Open mouth, Synophrys, Submucous cleft...	OMIM:617412
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Micrognathia, Sensorineural hearing impairment, Wide nasal bridge, Prot...	ORPHA:2479
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Irregular vertebral endplate...	OMIM:618395
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Depressed nasal bridge, Retinal dystrophy, Intestinal malrotation, ...	OMIM:222448
Hartsfield Syndrome	Wide nose, Epicanthus, Posteriorly rotated ears, Median cleft lip, Craniosynostosis, Alobar holop...	OMIM:615465
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Coloboma, High palate, Anteverted nares, Cleft lip, Low-set ears, Smooth philtrum, ...	OMIM:616975
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Telecanthus, Occipital encephalocele, Posteriorly rotated ears, R...	OMIM:615948
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Choreoathetosis...	ORPHA:79443
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Hip contracture, Toe syndactyly, Elbow flexion contracture, 2-3 toe syndactyly, Shortening of all...	OMIM:616809
Weaver Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Sandal gap, Camptodactyly of finger, Microg...	ORPHA:3447
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Cataract, Malar prominence, Abnormal ...	ORPHA:2715
Pallister-Hall-Like Syndrome	Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hy...	OMIM:241800
6P22 Microdeletion Syndrome	Finger syndactyly, Short neck, Clinodactyly, Hydrocephalus, Low-set ears, Overfolded helix, Heari...	ORPHA:251046
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros...	OMIM:616331
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased...	OMIM:218000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Conductive hearing imp...	OMIM:235510
Mucopolysaccharidosis Type 3	Adenoiditis, Synophrys, Otitis media, Thickened helices, Conductive hearing impairment, Chronic o...	ORPHA:581
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Highly arched eyebrow, Diastema, Bilateral ptosis, Bulbous nose, Synoph...	ORPHA:329224
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,...	OMIM:234100
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Pelger-Huet Anomaly	Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Pes cavus, Short 4th...	OMIM:169400
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Rhizomelia, Ataxia, Micrognathia, Phalangeal cone-shaped epiphyses, Postaxial hand polydactyly, S...	OMIM:266920
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Hydrocephalus, 2-3 toe syndactyly, Knee flexion contrac...	OMIM:618162
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Knee flexion contracture, Attenuation of retinal blood vessels, Low-set, posteriorly rotated ears...	ORPHA:468631
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Broad nasal tip, Dental malocclusion, Spott...	OMIM:619719
Acrodysplasia Scoliosis	Spina bifida occulta, Brachydactyly	ORPHA:2956
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Tracheoesophageal fistula, Orofacial cleft, Eyelid coloboma, Anotia,...	ORPHA:268249
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Bulbous nose, Upslanted palpebral fissure, Macroglossia, Coloboma, Wide m...	OMIM:616789
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Charge Syndrome	Anophthalmia, Micrognathia, Coloboma, Holoprosencephaly, Iris coloboma, Facial palsy, Cleft upper...	OMIM:214800
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Shallow orbits, Conductive...	OMIM:182212
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Hydrocephalus, Epiphyseal stippling, Short distal phalanx of finger, Brachydactyly	ORPHA:1914
Mesomelic Dysplasia, Savarirayan Type	Hip dislocation, Fibular aplasia, Mesomelia, Short tibia, Dislocated radial head	OMIM:605274
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
Hypomelanosis Of Ito	Syndactyly, Macular hypopigmented whorls, streaks, and patches, Hand polydactyly, Radial deviatio...	OMIM:300337
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef...	OMIM:616788
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Anteverted nares, Hypoplasia of the maxilla, Bulbous nose, Hip dislocation, Prot...	ORPHA:481152
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow greater s...	OMIM:602271
Blue Cone Monochromatism	Abnormality of retinal pigmentation, Corneal dystrophy	ORPHA:16
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ...	OMIM:141400
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender long bones with...	OMIM:608154
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Genitourinary And/Or Brain Malformation Syndrome	Aplasia of the nasal bone, Epicanthus, Jejunal atresia, Ileal atresia, Micrognathia, Epicanthus i...	OMIM:618820
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho...	ORPHA:816
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under...	OMIM:618961
Chondroectodermal Dysplasia With Night Blindness	Epiphyseal dysplasia, Metaphyseal dysplasia, Micrognathia, Fractures of the long bones, Platyspon...	ORPHA:319195
Kabuki Syndrome	Orofacial cleft, Protruding ear, Microcornea, Coloboma, High palate, Widely spaced teeth, Microdo...	ORPHA:2322
Episodic Ataxia Type 1	Cerebellar atrophy, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Hand clenching	ORPHA:37612
C Syndrome	Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:211750
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Epicanthus, Micrognathia, External ear malformation, Cleft pal...	ORPHA:2505
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Median cleft lip, Orofacial cleft, Aplasia of the nose, Atresia of the external auditory canal, H...	ORPHA:3186
Thanatophoric Dysplasia Type 2	Encephalocele, Depressed nasal bridge, Hydrocephalus, Holoprosencephaly, Hearing impairment	ORPHA:93274
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Cataract, Anteverted nares, Tented upper lip vermilion, Uplifted earlobe, Cleft palat...	OMIM:616449
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan...	ORPHA:63442
Costello Syndrome	Keratoconus, Low-set, posteriorly rotated ears, Epicanthus, Generalized hyperpigmentation, Depres...	ORPHA:3071
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou...	ORPHA:90654
Oliver-Mcfarlane Syndrome	Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration	OMIM:275400
Persistent Placoid Maculopathy	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor...	ORPHA:97341
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Depressed nasal bridge, Lens luxation, Ectopia lentis, Hypoplasia of the ...	OMIM:608328
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Prominent nasal bridge, Highly arched eyebrow, Hypoplasia of ...	OMIM:609460
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Clinodactyly, Large fleshy ears, Thoracic kyphosis, Low-set ears, Ove...	OMIM:619092
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Prominent nose, Downturned corners of mouth, Choanal stenosis, Short philt...	OMIM:601808
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Alkuraya-Kucinskas Syndrome	Overlapping toe, Micrognathia, Abnormal foot morphology, Hydrocephalus, Adducted thumb, Cutaneous...	OMIM:617822
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Otofaciocervical Syndrome	Depressed nasal bridge, Anteverted nares, Protruding ear, Abnormal antihelix morphology, High pal...	ORPHA:2792
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Mend Syndrome	Telecanthus, Cataract, Prominent nasal bridge, Abnormal auditory evoked potentials, Micrognathia,...	ORPHA:401973
Progressive Osseous Heteroplasia	Hypermelanotic macule, Brachydactyly	ORPHA:2762
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma, Cleft palate, Cleft upper lip	OMIM:600251
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Protruding ear, Coloboma, High palate, Short philtrum, Wide ...	OMIM:309500
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Erythrokeratodermia Variabilis	Hypermelanotic macule, Tapered finger, Patchy palmoplantar hyperkeratosis, Irregular hyperpigment...	ORPHA:317
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Macrotia, Anal atr...	ORPHA:93950
Endove Syndrome, Limb-Brain Type	Toe syndactyly, Aplasia of the 3rd finger, Umbilical hernia, Cerebellar agenesis, Triangular tibi...	OMIM:619218
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widen...	ORPHA:93352
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Protruding ear, Tibial bowing, Hypoplastic iliac wing, Small earlobe, Abno...	ORPHA:93315
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Ankle clonus, Overlapping toe, Ataxia	OMIM:618598
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Preaxial hand polydactyly, Postaxial hand...	OMIM:175700
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Abnormality of the dentition...	ORPHA:2095
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Hyperlordos...	OMIM:253010
Congenital Varicella Syndrome	Micromelia	ORPHA:291
Choroidal Dystrophy, Central Areolar, 1	Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy	OMIM:215500
Flat Face-Microstomia-Ear Anomaly Syndrome	Abnormal oral mucosa morphology, Micrognathia, Long nose, High, narrow palate, Downturned corners...	ORPHA:1968
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Cleft upper lip, Cleft palate, Microtia, Bifid nose, Atresia of th...	OMIM:239800
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Premature graying of hair, Conductive hearing impairment, Hypoplastic...	OMIM:113620
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Abnormal metaphysis morphology, Limb undergrowth	ORPHA:1861
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Telecanthus, Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive ...	ORPHA:2010
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver...	OMIM:212780
Metatropic Dysplasia	Camptodactyly of finger, Micromelia, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5t...	ORPHA:2635
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Holoprosencephaly 11	Cleft lip, Synophrys, Cleft palate, Holoprosencephaly, Thick eyebrow	OMIM:614226
Beare-Stevenson Cutis Gyrata Syndrome	Anteriorly placed anus, Choanal stenosis, High palate, Bifid uvula, Anteverted nares, Depressed n...	OMIM:123790
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Sensorineural hearing impairment,...	ORPHA:290
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Microcor...	OMIM:268400
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration, Abnormality of the dentition	OMIM:251700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Persistence of primary teeth, Conical tooth, Optic atrophy, Wide nasal bridge, Dental m...	OMIM:618727
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation, Coxa valga, Hypoplastic vertebral bodies, Holoprosencephaly,...	ORPHA:2163
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Platyspondyly, Shor...	OMIM:614524
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Ectropion, Carious teeth, Pyloric stenosis, Developmental cataract, Low-se...	OMIM:616395
Marcus-Gunn Syndrome	Unilateral ptosis, Abnormal ear morphology, Choanal atresia, Morning glory anomaly, Abnormal fift...	ORPHA:91412
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, Protruding ear, High palate, Conductive...	ORPHA:2751
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla, Dislocated radial head	ORPHA:2975
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty...	OMIM:259600
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, B...	OMIM:300166
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Cerebellar vermis hypoplasia, Toe syndactyly, Short femur, Mesoa...	OMIM:277170
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Micrognathia, Short foot, Abnormal diaphysis morphology,...	ORPHA:3409
Nicolaides-Baraitser Syndrome	Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal epiphysis morpholo...	ORPHA:3051
Opsismodysplasia	Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti...	OMIM:258480
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormality of...	ORPHA:2319
Short-Rib Thoracic Dysplasia 12	Natal tooth, Epicanthus, Median cleft lip, Posteriorly rotated ears, Intestinal malrotation, Hama...	OMIM:269860
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Coxa vara, Hypopla...	OMIM:313400
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Cafe-au-lait...	OMIM:250410
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Hitchhiker thumb, Thoracolumbar scoliosis, Single transverse p...	ORPHA:2437
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Wiedemann-Steiner Syndrome	Pes planus, Broad-based gait, Tapered finger, Micrognathia, Contracture of the distal interphalan...	OMIM:605130
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, Microdontia, Bifid uvula, Depressed nasal bridge, Cleft...	OMIM:129400
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Abnor...	ORPHA:1782
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa...	ORPHA:508533
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Micrognathia, Small hand, Spina bifida occulta, Short 4th metacarpal	ORPHA:1787
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Zimmermann-Laband Syndrome	Micrognathia, Large fleshy ears, High palate, Bifid uvula, Supernumerary tooth, Wide nose, Genera...	ORPHA:3473
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Small hand, Upper limb as...	ORPHA:1597
Bardet-Biedl Syndrome 9	Syndactyly, Bone spicule pigmentation of the retina, Postaxial polydactyly, Postaxial hand polyda...	OMIM:615986
Geroderma Osteodysplasticum	Mandibular prognathia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyph...	OMIM:231070
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Inability to walk, Small hand, Narrow palm, Short foot, Campt...	OMIM:615547
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Micrognathia, Central Y-...	ORPHA:2754
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Hypoplasia of the maxilla, Kyphosis, Scoliosis	OMIM:300676
Robinow Syndrome, Autosomal Recessive 2	Anteverted nares, Cleft soft palate, Posteriorly rotated ears, Broad nasal tip, Micrognathia, Abn...	OMIM:618529
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Blepharop...	ORPHA:293725
Multiple Sulfatase Deficiency	Smooth philtrum, Abnormality of retinal pigmentation, Cataract, Anteverted nares, Depressed nasal...	ORPHA:585
Pontocerebellar Hypoplasia, Type 11	Coloboma, Bulbous nose, Macrotia, Anal atresia	OMIM:617695
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Micrognathia, Wide nasal bridge, Large earlobe, Abnormal antihelix morphol...	ORPHA:1438
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Depressed nasal bridge, Anteverted nares, Choanal atresia, Craniosynostosis, Hearing abnormality,...	ORPHA:1555
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Epicanthus, Telecanthus, Anteverted ...	ORPHA:1915
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal pinna morphology, Abnormal external nose morphology, High palate, Holoprosencephaly, Low...	ORPHA:556955
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Genu varum, Hip dislocat...	OMIM:619451
Cocaine Embryofetopathy	Encephalocele, Short distal phalanx of finger	ORPHA:1911
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Posteriorly rotated ears, Highly arched eyebrow, Long philtrum, Microphthalmia...	OMIM:300887
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Smooth philtrum, Anteverted nares, Corneal opacity, Posteriorly rotated ears, Micrognathia, Kerat...	OMIM:602562
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Optic atrophy, Retinal dysplasia, Hol...	OMIM:253800
Cerebrooculonasal Syndrome	Anophthalmia, Downturned corners of mouth, High palate, Conductive hearing impairment, Iris colob...	OMIM:605627
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Posteriorly rotated ears, Optic nerve hypoplasia, Choanal atresia, Cleft upper lip, ...	OMIM:607597
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Abnor...	ORPHA:93329
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Hypoplasia of the maxilla, R...	ORPHA:293939
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, High palate, Small earlobe, Depressed nasal bridge, Anteverted nares, ...	OMIM:608156
Vici Syndrome	Abnormality of retinal pigmentation, Cataract, Sensorineural hearing impairment, Optic atrophy, D...	ORPHA:1493
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Abnormally ossified vertebrae, Lumba...	ORPHA:94068
Usher Syndrome Type 3	Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ...	ORPHA:231183
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger	ORPHA:2776
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Impaired tactile sensation, Syndactyly, Clinodactyly	OMIM:619091
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Wide anterior fontanel, Pyloric stenosis, S...	ORPHA:457279
Fraser Syndrome 1	Cleft ala nasi, Anophthalmia, Dental crowding, Malformed lacrimal duct, Choanal stenosis, Conduct...	OMIM:219000
Van Den Ende-Gupta Syndrome	Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee...	OMIM:600920
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Multiple Synostoses Syndrome 4	Otosclerosis, Tarsal synostosis	OMIM:617898
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve...	OMIM:614643
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptoda...	ORPHA:2994
Acro-Renal-Ocular Syndrome	Vertebral fusion, Epicanthus, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Sensorineur...	ORPHA:959
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Absent lacrimal punctum, Telecanthus, Posteriorly rotated ears, Abnormal pinna...	ORPHA:228396
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Fronta...	ORPHA:1528
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Epicanthus, Depressed nasal bridge, Hydrocephalus, Large earlobe, Microphthalmia, Downslanted pal...	OMIM:602501
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, High, narrow palate, Protruding ear, Downturned corners of mouth, ...	ORPHA:352665
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Cataract, Odontogenic keratocysts of the jaw, Narrow mouth...	ORPHA:77301
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C...	OMIM:300946
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Micrognathia, Postaxial polydactyly, ...	OMIM:617866
Dubowitz Syndrome	Micrognathia, Rectal prolapse, Protruding ear, Abnormality of skin pigmentation, High palate, Spi...	ORPHA:235
Smith-Magenis Syndrome	Mandibular prognathia, Retinal detachment, Tented upper lip vermilion, Depressed nasal bridge, An...	ORPHA:819
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Depressed nasal ridge, Cle...	OMIM:613885
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Depressed nasal bridge, Abnormal pinna morphology, Sparse eyelashes, Sparse eyebrow, Se...	ORPHA:35173
Holoprosencephaly 14	Median cleft lip, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Cle...	OMIM:619895
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Wide nasal bridge, Cleft pal...	OMIM:615524
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb...	ORPHA:93360
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Brachydactyly	ORPHA:1436
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal...	OMIM:215045
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Abnormal size of the palpebral fissures, Camptodactyly of fi...	ORPHA:1101
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Hearing abnormality, Cupped ear, Ocular albinism, Wide nasal bridge, Anteriorly pla...	ORPHA:1352
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Cleft upper lip, Cleft palate, Central poste...	OMIM:244600
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Enamel hypoplasia, Macrotia, Palmoplantar keratoderma	OMIM:613576
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Hydrocephalus, Developmental cataract, Macroglossia, Microphthalmia	OMIM:613155
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen...	OMIM:142900
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Proximal femoral metaphyseal...	ORPHA:397715
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm,...	OMIM:300232
Doors Syndrome	Short lingual frenulum, Downturned corners of mouth, High palate, Widely spaced teeth, Spina bifi...	ORPHA:79500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,...	OMIM:618019
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Rhizom...	ORPHA:763
Frontonasal Dysplasia 3	Absent eyebrow, Posteriorly rotated ears, Sparse eyelashes, Underdeveloped nasal alae, Wide nasal...	OMIM:613456
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Achondroplasia	Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Conductive hearing impairment, ...	OMIM:100800
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Depressed nasal bridge, Abnormal pinna morphology, Micrognathia, Bu...	OMIM:614437
Treacher Collins Syndrome 2	Microretrognathia, Choanal atresia, Micrognathia, Lower eyelid coloboma, Cleft palate, Fusion of ...	OMIM:613717
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Trisomy 12P	Epicanthus, Thick eyebrow, Micrognathia, Wide nasal bridge, Cleft palate, Aplasia/Hypoplasia of t...	ORPHA:1699
Cleft Velum	Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi...	ORPHA:99772
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Cataract, Epicanthus, Palpebral edema, Hearing impairment, M...	OMIM:614866
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Clinodactyly of the 5th finger, Spina bifida occulta, Sh...	OMIM:617877
Joubert Syndrome 33	Syndactyly, Ataxia	OMIM:617767
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Prominent nose, Micrognathia, Developmental cataract, Micropht...	OMIM:610756
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Microcornea...	OMIM:309800
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Trisomy 9P	Dental crowding, Abnormal nasal morphology, Abnormal pupil morphology, Non-midline cleft lip, Pro...	ORPHA:236
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Micrognathia, Malar prominence, Microcornea, Long eyelashes, M...	ORPHA:48431
Cerebellar-Facial-Dental Syndrome	Cataract, Anteverted nares, Micrognathia, Sparse eyebrow, Dental malocclusion, Wide nasal bridge,...	ORPHA:444072
Smith-Lemli-Opitz Syndrome	Dental crowding, Micrognathia, Holoprosencephaly, Bifid uvula, Microretrognathia, Anteverted nare...	OMIM:270400
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Short neck, Mesomelic/rhizomelic limb shortening, ...	ORPHA:2347
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ...	OMIM:143095
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Non-midline cleft lip, Retinopathy	ORPHA:1995
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Iliac crest serration, Abnormal metacarp...	ORPHA:168549
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Short neck,...	OMIM:305400
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Epicanthus, Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencephaly, Mi...	OMIM:618500
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Micrognathia, Hydrocephalus, Submucous cleft har...	ORPHA:2189
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Abnormality of the dentition, Microspherophakia, Deep anterior cham...	OMIM:251750
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c...	OMIM:613731
Microphthalmia, Syndromic 5	Cataract, Retinal dystrophy, Optic nerve hypoplasia, Anophthalmia, Cleft palate, Microcornea, Col...	OMIM:610125
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Bruck Syndrome 1	Hip contracture, Protrusio acetabuli, Kyphosis, Elbow flexion contracture, Vertebral wedging, Cox...	OMIM:259450
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Aqueductal s...	ORPHA:93260
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Short...	OMIM:617137
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Hydrocephalu...	OMIM:224400
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Brushfield spots, Hypopigmented skin patches, Abnormal epiph...	ORPHA:1784
Multiple Synostoses Syndrome 2	Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn...	OMIM:610017
Calvarial Doughnut Lesions With Bone Fragility	Mixed hearing impairment, Carious teeth, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Ohdo Syndrome, X-Linked	Prominent nose, Micrognathia, High palate, Widely spaced teeth, Microdontia, Depressed nasal brid...	OMIM:300895
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia...	OMIM:107480
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Narrow nasal ridge, Prominent nose, Hiatus hernia, Micrognathia, Macrotia, ...	OMIM:251300
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Abnormal pinna morphology, Prominent nasal bridge, Choanal atresia, Sensorineural hearing impairm...	ORPHA:52055
Cockayne Syndrome Type 1	Mandibular prognathia, Absent brainstem auditory responses, Cataract, Anophthalmia, Hypermelanoti...	ORPHA:90321
3Q29 Microdeletion Syndrome	Cataract, Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Orofacial cleft,...	ORPHA:65286
Yunis-Varon Syndrome	Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Microg...	OMIM:216340
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormality of skin pigmentation, Hydrocephalus, Sandal gap, Brachydactyly	ORPHA:2180
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation	OMIM:264270
Eem Syndrome	Abnormality of retinal pigmentation, Absent eyebrow, Abnormal dental morphology, Selective tooth ...	ORPHA:1897
Combined Oxidative Phosphorylation Deficiency 25	Hypoplasia of the pons, Syndactyly, Cerebellar atrophy	OMIM:616430
Short Syndrome	Telecanthus, Corneal opacity, Abnormal dental enamel morphology, Abnormality of the dentition, Ab...	ORPHA:3163
Isolated Exencephaly	Depressed nasal bridge, Abnormal facial skeleton morphology, Holoprosencephaly, Low-set ears, Hyp...	ORPHA:563612
Cousin Syndrome	Micrognathia, Microcornea, Wrist flexion contracture, Dislocated radial head, Humeroradial synost...	OMIM:260660
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Depressed nasal bridge, Broad nas...	OMIM:619680
Momo Syndrome	Delayed eruption of teeth, Thick upper lip vermilion, Epicanthus, Underfolded helix, Bilateral mi...	ORPHA:2563
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Thanatophoric Dysplasia Type 1	Brachydactyly, Short femur, Bowing of the long bones, Micromelia, Hypoplastic ilia, Abnormal sacr...	ORPHA:1860
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Ankyloblepharon, Pterygium, A...	OMIM:263650
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Narrow nasal bridge, Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Micrognat...	OMIM:309520
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius...	ORPHA:3320
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Hyperlordosis, Short neck, Symphalangism...	ORPHA:710
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Aplastic clavicle, Abnormality of the humerus, Short thumb, El...	ORPHA:2538
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Bilateral camptodactyly, Prominent fingertip pads, Hip ...	OMIM:619557
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip dysplasia, Abnormal ilium mo...	ORPHA:2655
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret...	OMIM:617879
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, High palate, Bilateral ptosis, Hearing impairment	ORPHA:329336
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Short foot, Hip dysplasia, Cerebellar hypoplasia, Dandy-Walker malformation	OMIM:601427
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Large iliac...	OMIM:271640
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Postaxial polydactyly, Brachydactyly	OMIM:600151
Congenital Toxoplasmosis	Microphthalmia, Abnormality of retinal pigmentation, Hydrocephalus, Hearing impairment	ORPHA:858
Jansen-De Vries Syndrome	Short foot, Broad-based gait, Small hand, Brachydactyly	OMIM:617450
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, P...	OMIM:619194
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Hypopigmented skin patches, Genu valgum, Abnormal metacarpal morphology, Short dis...	ORPHA:1295
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Abnormal eyelid morphology, Micrognathia, Vi...	ORPHA:2556
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia	ORPHA:93945
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short phalanx of f...	OMIM:300845
Coffin-Siris Syndrome 11	Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Esophageal ...	OMIM:618779
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Epicanthus, Anteverted nares, Depressed nasal br...	ORPHA:435638
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Unilateral ptosis, Dental crowding, Synophrys, Downturned corners of mouth, Short philtrum, Widel...	OMIM:301044
Gorlin Syndrome	Arachnodactyly, Palmar pits, Hydrocephalus, Plantar pits, Melanocytic nevus, Brachydactyly	ORPHA:377
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Holoprosencephaly, Lo...	OMIM:619879
Ctcf-Related Neurodevelopmental Disorder	Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Microdontia, Low-set...	ORPHA:363611
Diastrophic Dysplasia	Bowing of the long bones, Camptodactyly of finger, Proximal placement of thumb, Micromelia, Elbow...	ORPHA:628
Joubert Syndrome 37	Wide nose, Prominent metopic ridge, Anteverted nares, Posteriorly rotated ears, Wide nasal bridge...	OMIM:619185
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ...	OMIM:210710
Osteogenesis Imperfecta, Type Iv	Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment	OMIM:166220
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Mandibular prognathia, Micrognathia, Coloboma, Abnormal optic disc morphology,...	ORPHA:508498
Anophthalmia Plus Syndrome	Low-set, posteriorly rotated ears, Anophthalmia, Choanal atresia, Spina bifida, Abnormal nasal mo...	ORPHA:1104
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific...	ORPHA:353298
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of retinal pigmentation, Elbow dislocation, Coxa vara, Irregula...	ORPHA:1824
Tarp Syndrome	Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom foot, Postaxial poly...	OMIM:311900
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Short neck, Hypoplasia o...	ORPHA:1798
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Conductive hearing...	ORPHA:2213
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Anteverted nares, Exaggerated cupi...	ORPHA:464738
Skin Creases, Congenital Symmetric Circumferential, 2	Uplifted earlobe, Micrognathia, Synophrys, Microcornea, Microdontia, Depressed nasal bridge, Wide...	OMIM:616734
Bohring-Opitz Syndrome	Joint dislocation, Low-set, posteriorly rotated ears, Prominent metopic ridge, Retinal atrophy, U...	ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Prominent nasal bridge, Microgn...	OMIM:300534
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Epicanthus, Posteriorly rotated ears, Hearing impairment, High, narrow ...	OMIM:618494
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Cowden Syndrome 5	Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fu...	OMIM:615108
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Alagille Syndrome	Keratoconus, Corneal dystrophy, Micrognathia, Long nose, Abnormal pupil morphology, Protruding ea...	ORPHA:52
Mosaic Trisomy 1	Microretrognathia, Depressed nasal bridge, Camptodactyly of finger, Abnormal pinna morphology, Th...	ORPHA:1692
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss...	OMIM:601492
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Cerebellar hypoplasia, Short palm, Clinoda...	OMIM:217980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Hypopigmentation of hair, Abnormal size of the palpebral fissures, Mac...	ORPHA:3214
Lhermitte-Duclos Disease	Hydrocephalus, Hand polydactyly, Enlarged cerebellum, Ataxia	ORPHA:65285
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ...	OMIM:271510
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hydrocephalus, Drumstick terminal phalanges, Umbilical hernia, Dandy-Walker malformation, Brachyd...	OMIM:612938
Leber Congenital Amaurosis 6	Keratoconus, Cataract, Attenuation of retinal blood vessels	OMIM:613826
Coffin-Siris Syndrome 7	Chiari type I malformation, Clinodactyly of the 5th finger, Brachydactyly	OMIM:618027
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Cleft lip, Single naris, Cleft palate...	OMIM:142945
Monosomy 9P	Micrognathia, Synophrys, Anotia, High palate, Depressed nasal bridge, Anteverted nares, Highly ar...	ORPHA:261112
Cerebellofaciodental Syndrome	Cataract, Sparse eyebrow, Dental malocclusion, Genu valgum, Taurodontia, Low-set ears, Macrodonti...	OMIM:616202
Acrofrontofacionasal Dysostosis 2	Syndactyly, Sacral dimple, Posteriorly rotated ears, Broad hallux, Wide anterior fontanel, Hand p...	OMIM:239710
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Osteogenesis Imperfecta, Type Ix	Kyphosis, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Short lower limbs	OMIM:259440
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Tonne-Kalscheuer Syndrome	Pes planus, Broad-based gait, Micrognathia, Blue irides, Broad thumb, Brachydactyly	OMIM:300978
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Abnormal foot morpholo...	ORPHA:3219
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa...	OMIM:272460
Choroideremia	Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m...	OMIM:303100
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat...	OMIM:619148
Ectodermal Dysplasia-Blindness Syndrome	Narrow nasal bridge, Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Pro...	ORPHA:1806
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Abnormality of the dentition, Atresia of the external auditory canal, Conductive hearing impairme...	OMIM:221320
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Joubert Syndrome 3	Epicanthus, Anteverted nares, Retinal dystrophy, Highly arched eyebrow, Wide nasal bridge, Pigmen...	OMIM:608629
Cardiofaciocutaneous Syndrome 1	Micrognathia, Deep philtrum, High palate, Absent eyebrow, Depressed nasal bridge, Anteverted nare...	OMIM:115150
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Simple ear, Hip dislocation, High palate, Atresia of the external auditory canal, N...	OMIM:602471
Mucopolysaccharidosis Type 4	Bowing of the long bones, Abnormal dental enamel morphology, Hyperlordosis, Carious teeth, Short ...	ORPHA:582
Hyperreflexia	Ankle clonus, Abnormality of retinal pigmentation	OMIM:145290
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Umbilical hernia	ORPHA:1035
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hydrocephalus, Abnormality of the elbow, Brachydactyly	ORPHA:2701
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Cataract, Dental crowding, Intestinal malrotation, Carious teeth, Sensorineural hear...	ORPHA:353281
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Cataract, Depresse...	OMIM:300990
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Cree Mental Retardation Syndrome	Posteriorly rotated ears, Cleft soft palate, Micrognathia, Coloboma, Low-set ears, Downslanted pa...	OMIM:606851
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Camptodactyly of finger, Abnormal retinal morphology, Prominent nasal b...	OMIM:610758
Momo Syndrome	Delayed eruption of teeth, Epicanthus, Underfolded helix, Thick lower lip vermilion, Dental maloc...	OMIM:157980
Schisis Association	Encephalocele, Anencephaly, Spina bifida, Micromelia	ORPHA:63862
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Camptodactyly, Clinodactyly of the 5th finger, Brachy...	OMIM:619123
Focal Dermal Hypoplasia	Narrow nasal bridge, Corneal opacity, Camptodactyly of finger, Hearing impairment, Ectopia lentis...	ORPHA:2092
Distal Deletion 6P	Micrognathia, Orofacial cleft, Hypoplasia of the iris, Downturned corners of mouth, Short philtru...	ORPHA:96125
Schilbach-Rott Syndrome	Epicanthus, Posteriorly rotated ears, Prominent nose, Long nose, Micrognathia, Submucous cleft ha...	OMIM:164220
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Mixed hearing impairment, Prominent nasal bridge, Choanal atresia, Lop ear, Sensorineural hearing...	OMIM:300472
Carey-Fineman-Ziter Syndrome	Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova...	ORPHA:1358
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
Woolly Hair Nevus	Patchy hypopigmentation of hair, Heterochromia iridis, Brachydactyly	ORPHA:79414
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, Micrognathi...	ORPHA:3253
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Wide anterior fontanel, Clinodactyly of the 5th finger, He...	OMIM:619736
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Duodenal stenosis, Microtia, Microphthalmia, Short nose	ORPHA:2547
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Cowden Syndrome 6	Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fu...	OMIM:615109
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Chorioretinal dysplasia, Abnormal eyelid morphology, Protruding ear, Abnormal optic...	ORPHA:2526
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormal dental enamel morph...	ORPHA:1005
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Notched primary central incisor, Low-set ears	OMIM:620062
Arterial Tortuosity Syndrome	Keratoconus, Convex nasal ridge, Hiatus hernia, Micrognathia, Astigmatism, High palate, Long phil...	OMIM:208050
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Cat Eye Syndrome	Anal stenosis, Epicanthus, Intestinal malrotation, Rectal fistula, Micrognathia, Rectal atresia, ...	OMIM:115470
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Cupped ear, Wide nasal bridge, Microc...	OMIM:110100
Cooper-Jabs Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Anteriorly placed a...	ORPHA:1488
Microcephaly 13, Primary, Autosomal Recessive	Micrognathia, Metaphyseal sclerosis, Small hand, Short foot, Cerebellar hypoplasia	OMIM:616051
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly	OMIM:149000
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent t...	ORPHA:974
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul...	OMIM:226960
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Abnormality of the philtrum, Non-midline cleft lip...	ORPHA:1770
Snijders Blok-Campeau Syndrome	Epicanthus, Prominent nose, Wide nasal bridge, Astigmatism, High palate, Widely spaced teeth, Low...	OMIM:618205
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Ptosis, Abnormality of retinal pigmentation, Facial palsy, Furrowed tongue	ORPHA:2743
Warburg Micro Syndrome 2	Cataract, Prominent nasal bridge, Asymmetry of the ears, Optic atrophy, Developmental cataract, M...	OMIM:614225
Osteogenesis Imperfecta, Type I	Wormian bones, Otosclerosis, Dentinogenesis imperfecta, Hearing impairment	OMIM:166200
Treacher Collins Syndrome 1	Sparse lower eyelashes, Choanal atresia, Cleft soft palate, Lacrimal duct stenosis, Micrognathia,...	OMIM:154500
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Arachnoid Cyst	Encephalocele, Mydriasis, Facial palsy, Vertigo, Hydrocephalus, Cranial nerve compression, Holopr...	ORPHA:2356
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Depressed nasal ridge, Widely spaced te...	OMIM:613451
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Telecanthus, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, ...	ORPHA:228390
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Short neck, Coxa valga, Metaphyseal widening,...	OMIM:239850
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Conductive hearing impairment, Spina b...	OMIM:218600
X-Linked Mandibulofacial Dysostosis	Low-set, posteriorly rotated ears, Epicanthus, Prominent nasal bridge, Micrognathia, Sensorineura...	ORPHA:1131
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of ...	OMIM:619950
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Bull's eye maculopathy, Micrognathia, Hypoplasia of the maxilla, Synophrys, High palate, Vertebra...	OMIM:213980
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Pes planus, Scapular winging, Single transverse palmar crease, Micromelia, Mon...	OMIM:618870
Oculopharyngodistal Myopathy 3	Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment, Ptosis	OMIM:619473
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Epicanthus, Telecanthus, Wide nasal bridge, Protruding ear, Genu valgum, H...	ORPHA:1778
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Proximal placement of thumb, Spotty hypopigmentation,...	OMIM:615789
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ptosis, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Wide nasal bridge, ...	ORPHA:453499
Cardiofaciocutaneous Syndrome	High palate, Thickened helices, Low-set, posteriorly rotated ears, Anteverted nares, Depressed na...	ORPHA:1340
Acrofacial Dysostosis, Cincinnati Type	Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Up...	OMIM:616462
Retinitis Pigmentosa 40	Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo...	OMIM:613801
Branchiootorenal Syndrome 1	Branchial cyst, Congenital hip dislocation, High palate, Conductive hearing impairment, Microdont...	OMIM:113650
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Proximal plac...	OMIM:600373
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Depressed nasal bridge, Anteverted nares, Camptodact...	ORPHA:920
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Genu recurvatum, Corneal opacity, Abnormal nasal morphology,...	ORPHA:578
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Spina bifida occulta, Micrognathia	ORPHA:1514
3C Syndrome	Finger syndactyly, Micrognathia, Missing ribs, Hydrocephalus, Hand polydactyly, Abnormal hip bone...	ORPHA:7
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Cerebellar hyp...	OMIM:616038
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnormal thumb morphology...	ORPHA:1842
Witteveen-Kolk Syndrome	Glue ear, Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, High palate, Short p...	OMIM:613406
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Abnormal diaphysis morpholo...	ORPHA:1657
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Short metacarpal, Plantar hyperkeratosis, Hyperpigmentation of the ...	ORPHA:221016
Short Stature-Wormian Bones-Dextrocardia Syndrome	Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retinal detachment, Abnormal optic chiasm morphology, Cataract, Prominent nasal bridge, Cleft sof...	ORPHA:268261
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Ataxia, T...	ORPHA:488642
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles	OMIM:606220
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:2246
Larsen Syndrome	Finger syndactyly, Brachydactyly, Accessory carpal bones, Vertebral segmentation defect, Abnormal...	ORPHA:503
Treacher Collins Syndrome 3	Micrognathia, Lower eyelid coloboma, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Co...	OMIM:248390
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy	ORPHA:3156
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Short metacarpal, Plantar hyperkeratosis, Hyperpigmentation of the ...	ORPHA:221008
Sweeney-Cox Syndrome	Uplifted earlobe, Micrognathia, High palate, Short philtrum, Median cleft palate, Prominent metop...	OMIM:617746
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Iris atrophy, ...	OMIM:601552
7Q31 Microdeletion Syndrome	Epicanthus, Telecanthus, Wide nasal ridge, Short palpebral fissure, Prominent nose, Hypoplasia of...	ORPHA:251061
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Optic atrophy, Narrow palate...	ORPHA:313892
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Barber-Say Syndrome	Delayed eruption of teeth, Ablepharon, Telecanthus, Ectropion, Anteverted nares, Abnormal pinna m...	ORPHA:1231
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Morquio Syndrome C	Platyspondyly	OMIM:252300
Rodrigues Blindness	Narrow nasal bridge, Sclerocornea, Protruding ear, Microcornea, Microphthalmia, Tooth malposition	OMIM:268320
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Hypertrichosis Cubiti	Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Ataxia-Tapetoretinal Degeneration Syndrome	Pigmentary retinopathy, Rod-cone dystrophy	ORPHA:1178
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Anal stenosis, Optic disc hypoplasia, Choanal atresia, Aganglion...	OMIM:607323
Fryns Microphthalmia Syndrome	Anophthalmia, Abnormality of the ear, Bilateral cleft lip and palate, Neural tube defect, Microph...	OMIM:600776
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl...	OMIM:216300
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Epicanthus, Cleft soft palate, Uplifted earlobe, Pierre-Robin sequence,...	OMIM:620183
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Microdontia, Antevert...	ORPHA:93357
Intellectual Developmental Disorder, Autosomal Dominant 58	Few cafe-au-lait spots, Posteriorly rotated ears, Dental crowding, Protruding tongue, Broad nasal...	OMIM:618106
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th...	ORPHA:137834
Hall-Riggs Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Abnormal epiphysis m...	ORPHA:2107
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Peters anomaly, Microphthalmia, Downslanted ...	OMIM:614526
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Histiocytoid Cardiomyopathy	Corneal opacity, Hydrocephalus, Optic atrophy, Cleft palate, Microphthalmia, Megalocornea, Congen...	ORPHA:137675
Usher Syndrome	Abnormality of retinal pigmentation, Abnormal vestibular function, Cataract, Abnormality of denta...	ORPHA:886
Rhizomelic Chondrodysplasia Punctata, Type 2	Cataract, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Micrognathia, Submuco...	OMIM:222765
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, ...	ORPHA:1865
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Posteriorly rotated ears, Sclerocornea, Uplifted earlobe, Microg...	OMIM:607932
Ceroid Lipofuscinosis, Neuronal, 7	Retinopathy, Pigmentary retinopathy, Optic atrophy	OMIM:610951
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L...	OMIM:310600
Curry-Jones Syndrome	Occipital meningocele, Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningoc...	OMIM:601707
Microhydranencephaly, X-Linked	Holoprosencephaly	OMIM:306990
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep...	OMIM:602400
Fryns Syndrome	Low-set, posteriorly rotated ears, Tented upper lip vermilion, Anteverted nares, Aganglionic mega...	ORPHA:2059
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Protruding ear...	OMIM:614856
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hydrocephalus, Hypopigmented ...	ORPHA:53271
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Increased intervert...	OMIM:224300
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Absent lacrimal punctum, Generalized hyperpigmentation, Sparse eyelash...	ORPHA:1071
Diabetes And Deafness, Maternally Inherited	Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ...	OMIM:520000
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Weill-Marchesani Syndrome 1	Cataract, Depressed nasal bridge, Ectopia lentis, Hypoplasia of the maxilla, Microspherophakia, N...	OMIM:277600
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Coloboma, High palate, Otitis media, Conductive hearing impairment...	ORPHA:353277
Roberts-Sc Phocomelia Syndrome	Micrognathia, Knee flexion contracture, Coloboma, Eyelid coloboma, High palate, Shallow orbits, W...	OMIM:268300
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Epicanthus, Congenital hip dislocation, Pyloric stenosis, Atresia of the external auditory canal,...	OMIM:133705
Microphthalmia, Isolated 4	Microphthalmia, Coloboma	OMIM:613094
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th...	ORPHA:3145
Cardioacrofacial Dysplasia 2	Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ...	OMIM:619143
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Pes valgus, Br...	OMIM:614376
Prolidase Deficiency	Abnormality of retinal pigmentation, Depressed nasal bridge, Micrognathia, Carious teeth, Depress...	ORPHA:742
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte...	ORPHA:163654
Autosomal Recessive Cutis Laxa Type 2A	Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Prominent nasal...	ORPHA:357058
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Epicanthus, Depressed nasal bridge, Abnormal dental enamel morphology, Abnormal eyelid morphology...	ORPHA:1812
Craniofacioskeletal Syndrome	Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Cerebellar hypopla...	OMIM:300712
Joubert Syndrome 22	Microphthalmia, Coloboma, Retinal dysplasia	OMIM:615665
Geroderma Osteodysplastica	Mandibular prognathia, Beaking of vertebral bodies, Hip dislocation, Abnormal form of the vertebr...	ORPHA:2078
Silver-Russell Syndrome 1	Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Clino...	OMIM:180860
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Abnormality of retinal pigmentation, Camptodactyly of finger, Micrognathia...	ORPHA:2521
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Prominent nasal bridge, Cleft soft palate, Hiatus hernia, Eosinophili...	OMIM:615582
Branchioskeletogenital Syndrome	Attached earlobe, Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Anteriorly placed ...	ORPHA:1299
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr...	OMIM:180104
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Incontinentia Pigmenti	Delayed eruption of teeth, Retinal detachment, Cataract, Abnormal chorioretinal morphology, Campt...	ORPHA:464
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Smooth philtrum, Wide nose, Prominent nasal bridge, Hypoplasia of the ...	ORPHA:50814
Laron Syndrome	Short toe, Abnormality of the elbow, Micrognathia, Brachydactyly	ORPHA:633
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Freckling, Malabsorption, Retrognathia, Triangular mouth, Protr...	OMIM:601675
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, Downturned corners of mouth, Periodontitis, Iris...	ORPHA:955
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Epicanthus, Anteverted nares, Micrognathia, Microdontia, Micro...	ORPHA:3191
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Pes planus, Short fourth metatarsal, Short fifth metatarsal, Cerebel...	OMIM:619841
Vissers-Bodmer Syndrome	Holoprosencephaly	OMIM:619033
Spinocerebellar Ataxia, Autosomal Recessive 29	Retinal pigment epithelial mottling, Optic disc pallor	OMIM:619389
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Schizophrenia 1	Syndactyly, Short proximal phalanx of the 4th toe	OMIM:181510
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Abnormality of the philtrum, Spina bifida, Abn...	ORPHA:2671
Cowden Syndrome 1	Colonic diverticula, Cataract, Micrognathia, Hypoplasia of the maxilla, Angioid streaks of the fu...	OMIM:158350
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis, Allergic rhinitis	OMIM:603165
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Conical incisor, Conjunctivitis, Microdontia, Corneal perfor...	OMIM:149730
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Ectopia lentis	OMIM:614819
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Bowing of the long bones, Rhizomelia, Platyspondyly, Short ...	OMIM:616229
Distal 17P13.1 Microdeletion Syndrome	Prominent nasal bridge, Limited elbow movement, Protruding ear, High palate, Hypoplasia of the zy...	ORPHA:319171
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Oculocerebrocutaneous Syndrome	Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Orbital encephalocele, Orbital cyst, Cl...	OMIM:164180
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Vacterl With Hydrocephalus	Microtia, third degree, Anophthalmia, Spina bifida, Micrognathia, Aqueductal stenosis, Esophageal...	ORPHA:3412
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Ptosis, Blepharophimosis, Microdontia, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced...	ORPHA:2728
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:610445
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Hypop...	ORPHA:1553
Mental retardation, x-linked, syndromic, Turner type	Limited elbow extension, Holoprosencephaly	OMIM:300706
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Micrognathia, Vertebral segmentation d...	ORPHA:1323
Joubert Syndrome 2	Encephalocele, Depressed nasal bridge, Retinal dystrophy, Hydrocephalus, Optic disc coloboma, Hig...	OMIM:608091
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Anteverted nares, Prominent nasal bridge, Optic atroph...	OMIM:615663
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5t...	OMIM:609638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Retinitis Pigmentosa 84	Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy...	OMIM:618220
Myhre Syndrome	Mandibular prognathia, Ptosis, Craniofacial hyperostosis, Cataract, Hypoplasia of the maxilla, Su...	ORPHA:2588
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Telecanthus, Anteverted nares, Camptodactyly of finger, Craniosynost...	ORPHA:2462
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence...	ORPHA:83463
Cardioacrofacial Dysplasia 1	Limb undergrowth, Postaxial polydactyly, Genu valgum	OMIM:619142
Chromosome 6Q24-Q25 Deletion Syndrome	Medial flaring of the eyebrow, Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Hoode...	OMIM:612863
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb	ORPHA:1794
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly, Spina bifida occulta, White forelock	ORPHA:2475
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the ...	ORPHA:1786
20P13 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly	ORPHA:313781
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Almond-shaped palpebral fissure, Epiblepharon, Bul...	OMIM:619103
Velocardiofacial Syndrome	Underdeveloped nasal alae, Blepharophimosis, Bulbous nose, Submucous cleft hard palate, Velophary...	OMIM:192430
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Papilledema, Abnormality of retinal pigmentation, Ptosis, Intestinal p...	OMIM:309900
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Depressed nasal ridge, Orofacial cleft, High palate, Conductive hearing impairment, Th...	OMIM:607872
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Abnormal E...	ORPHA:199302
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te...	ORPHA:37553
22Q11.2 Deletion Syndrome	Abnormal eyelid morphology, Micrognathia, Short philtrum, Conductive hearing impairment, Chronic ...	ORPHA:567
Kearns-Sayre Syndrome	Abnormality of retinal pigmentation, Hearing impairment	ORPHA:480
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Camptodactyly of finger, Craniosynostosis, C...	ORPHA:83
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Long eyelashes, Retinal degeneration, Abnormality of the dentition	ORPHA:3363
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Ptosis, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal mal...	OMIM:243180
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Amelia	OMIM:601163
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Acrofacial Dysostosis 1, Nager Type	Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absent lower eyelashes, Conductive hea...	OMIM:154400
Desmosterolosis	Low-set, posteriorly rotated ears, Epicanthus, Depressed nasal bridge, Intestinal malrotation, Ab...	ORPHA:35107
1Q21.1 Microdeletion Syndrome	Epicanthus, Cataract, Bulbous nose, Sensorineural hearing impairment, Hydrocephalus, Wide nasal b...	ORPHA:250989
Smith-Magenis Syndrome	Pes planus, Impaired pain sensation, Broad palm, Short palm, Abnormal forearm morphology, Brachyd...	OMIM:182290
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Chiari type I malformation, Overla...	OMIM:618316
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Short distal phalanx of finger, Coxa v...	OMIM:601370
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Fanconi Anemia, Complementation Group S	Epicanthus, Anteverted nares, Prominent nasal bridge, Macrodontia, Underdeveloped nasal alae, Den...	OMIM:617883
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Hydroce...	OMIM:187600
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Cleidocranial Dysplasia	Delayed eruption of teeth, Mandibular prognathia, Sinusitis, Depressed nasal bridge, Abnormal den...	ORPHA:1452
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Meier-Gorlin Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular femoral epiphysis, Patellar...	OMIM:613805
Kury-Isidor Syndrome	Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino...	OMIM:619762
Pallister-Hall Syndrome	Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Low-set, posteriorly rotated ears, Microre...	ORPHA:672
Mosaic Trisomy 9	Corneal opacity, Camptodactyly of finger, Intestinal malrotation, Spina bifida, Elbow dislocation...	ORPHA:99776
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Abnormal pinna morphology, Prominent nasal bridge, Delayed e...	OMIM:133540
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy, Astigmatism	OMIM:268060
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Cornelia De Lange Syndrome	Micrognathia, Synophrys, Microcornea, Downturned corners of mouth, High palate, Widely spaced tee...	ORPHA:199
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Mandibular prognathia, Cataract, Anteverted nare...	ORPHA:2969
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Stapes ankylosis, Calcification of the auricular cartilage, Choroidal ne...	ORPHA:51608
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Pain insensitivity, Congenital hip dislocation, Tapered finger, Micrognathia, Hypopla...	OMIM:616007
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium, ...	ORPHA:1433
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Brachydactyly	ORPHA:3306
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Cataract, Optic atrophy	OMIM:617255
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Biemond Syndrome Type 2	Microphthalmia, Coloboma, Hydrocephalus	ORPHA:141333
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly	ORPHA:2824
Blepharocheilodontic Syndrome 1	Neural tube defect, Clinodactyly, Cutaneous syndactyly	OMIM:119580
Shashi-Pena Syndrome	Short metacarpal, Deep palmar crease	OMIM:617190
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m...	ORPHA:50945
14Q24.1Q24.3 Microdeletion Syndrome	Short thumb, Brachydactyly, Limited elbow extension and supination, Dislocated radial head	ORPHA:401935
Isolated Childhood Apraxia Of Speech	High, narrow palate, Overfolded helix, Submucous cleft hard palate, Horizontal eyebrow	ORPHA:209908
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Synophrys, Protruding ear, Abnormality of skin pigmentation, Coloboma, High ...	OMIM:619475
Bornholm Eye Disease	Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia	OMIM:300843
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Anophthalmia, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae, Long e...	OMIM:615877
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme...	ORPHA:221120
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Plantar pits, Irregular ossific...	OMIM:109400
Achondrogenesis, Type Ib	Hypoplastic ilia, Umbilical hernia, Short ribs, Micromelia	OMIM:600972
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Dysgenesis of the cerebellar vermi...	OMIM:619479
Geleophysic Dysplasia 1	Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f...	OMIM:231050
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Pigmentary retinopathy, Hip dislocation, Facial palsy	ORPHA:370968
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of retinal pigmentation, Anteverted nares, Abnormal eyelash morphology, Optic atrophy...	ORPHA:2518
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Arterial Tortuosity Syndrome	Keratoconus, Craniosynostosis, Hiatus hernia, Pyloric stenosis, Abnormal zygomatic bone morpholog...	ORPHA:3342
Otosclerosis 1	Conductive hearing impairment, Otosclerosis	OMIM:166800
Marfan Syndrome	Retinal detachment, Cataract, Genu recurvatum, Protrusio acetabuli, Dental crowding, Ectopia lent...	OMIM:154700
Mmep Syndrome	Mandibular prognathia, Microphthalmia, Median cleft lip, Orofacial cleft	ORPHA:3434
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Peters anomaly, Hydrocephalus, Cleft palate, Anteriorly placed anus, Pigm...	OMIM:309801
Keratoconus 9	Keratoconus, Decreased corneal thickness	OMIM:617928
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Micrognathia, Hydrocephalus, Optic atrophy, Buphthalmos, Coloboma, Hyp...	OMIM:253280
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Telecanthus, Camptodactyly of finger, Lip pit, Large earlobe, Hypodontia, ...	ORPHA:1236
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	OMIM:609016
Angelman Syndrome	Keratoconus, Optic disc pallor, Ptosis, Mandibular prognathia, Protruding tongue, Optic atrophy, ...	ORPHA:72
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Mandibular prognathia, Finger syndactyly, Branchial cyst, Single transverse palmar crease, Tapere...	ORPHA:435938
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, De...	OMIM:607812
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal...	OMIM:613320
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, High palate, Microdontia, Genu varum, M...	OMIM:224690
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Hamartoma of tongue, Esophageal d...	OMIM:617925
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:604292
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia	OMIM:226700
Achondrogenesis Type 1A	Micromelia, Micrognathia, Short foot, Short palm, Umbilical hernia	ORPHA:93299
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormal pelvis bone ossification, Abnormal femur mo...	ORPHA:166119
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Aplasia/Hypoplasia of the cerebellar vermis, Dee...	ORPHA:254346
Narp Syndrome	Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Acro-Renal-Mandibular Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapula...	ORPHA:958
Buratti-Harel Syndrome	Epicanthus, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, ...	OMIM:619314
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Osteolytic defects of the distal phalanges of the hand, Short clavicles, Mottled pi...	OMIM:608612
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Epicanthus, Sinusitis, Choanal atresia, Micrognathia,...	OMIM:251260
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micrognathia, Shor...	OMIM:616145
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Depressed nasal bridge, Convex nasal ridge, M...	OMIM:241410
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Rod-cone dystrophy, Cataract	OMIM:614307
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn...	OMIM:206900
Coffin-Siris Syndrome 6	Clinodactyly, Micrognathia, Brachydactyly	OMIM:617808
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Choanal sten...	OMIM:241310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Natal tooth, Microretrognathia, Hamartoma of tongue, Prominent nose, Sparse eyebro...	OMIM:616300
Achondrogenesis Type 1B	Micromelia, Micrognathia, Short foot, Talipes equinovarus, Umbilical hernia	ORPHA:93298
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Mandibular prognathia, Prominent nasal bridge, Carious teeth, ...	ORPHA:1110
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se...	OMIM:618144
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Saethre-Chotzen Syndrome	Ptosis, Abnormal nasolacrimal system morphology, Narrow nose, Prominent crus of helix, Long nose,...	OMIM:101400
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Brachydactyly	ORPHA:436245
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormality ...	ORPHA:513456
Keratoconus 1	Keratoconus, Astigmatism	OMIM:148300
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Cerebrofacioarticular Syndrome	Irregular dentition, Anal stenosis, Epicanthus, Blepharophimosis, Bilateral choanal atresia/steno...	ORPHA:314679
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph...	OMIM:617425
Mowat-Wilson Syndrome	Uplifted earlobe, Microcornea, Widely spaced teeth, Chorioretinal coloboma, Iris coloboma, Wide n...	OMIM:235730
Myhre Syndrome	Mandibular prognathia, Vertebral fusion, Thin upper lip vermilion, Cataract, Prominent nasal brid...	OMIM:139210
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Chorioretinal dysplasia, Micrognathia, Abnormal pupil mor...	ORPHA:534
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Orofacial cleft, Spina...	ORPHA:63259
Cockayne Syndrome A	Mandibular prognathia, Prominent nose, Abnormality of skin pigmentation, Retinal atrophy, Retinal...	OMIM:216400
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Underdeveloped nasal alae, Broad nasal tip, High, narrow pala...	OMIM:272950
Achondrogenesis Type 2	Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ...	ORPHA:93296
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportio...	OMIM:263520
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Anotia, Atresia of the external a...	OMIM:608257
Kbg Syndrome	Vertebral fusion, Single transverse palmar crease, Short neck, Cutaneous syndactyly, Finger clino...	ORPHA:2332
Papillorenal Syndrome	Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Se...	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia	OMIM:614830
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Camptodactyly of finger, Spina bifida, Shor...	ORPHA:261318
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Anisocoria, Sm...	OMIM:181270
Silver-Russell Syndrome 3	Clinodactyly of the 5th finger, Syndactyly, Small hand, Melanocytic nevus	OMIM:616489
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Chiari malformation, Cafe-au-lait spot, Shor...	OMIM:609053
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Protruding ear, Clinodactyly of the ...	ORPHA:69085
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, Unilateral microphth...	OMIM:618874
Toluene Embryopathy	Smooth philtrum, Epicanthus, Micrognathia, Protruding ear, Thin vermilion border, Hypoplasia of t...	ORPHA:1920
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Abnormal pinna morphology, Sparse eyelashes, Malar flattening, Sparse eyebrow, Concave ...	OMIM:302960
Retinitis Pigmentosa 2	Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa...	OMIM:312600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal...	ORPHA:2920
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Conductive hearing impairment, Finger syndactyly	ORPHA:1997
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormal intervertebral disk morphology, Ca...	ORPHA:2311
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Talipes, Avascular necrosis of the capital femoral ep...	ORPHA:502
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Anteverted nares, Micrognathia, Submucous cleft hard palate, Darwin tubercle of helix...	OMIM:619122
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Posteriorly rotated ears, Fractured radius, Short neck, Micrognathia, Decreased fibu...	OMIM:616897
Isotretinoin-Like Syndrome	Anteverted nares, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft palate,...	ORPHA:2306
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Congenital Disorder Of Glycosylation, Type Iig	Smooth philtrum, Thin upper lip vermilion, Anteverted nares, Posteriorly rotated ears, Micrognath...	OMIM:611209
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of the maxilla, Microtia, Long...	OMIM:608149
Trichothiodystrophy	Joint dislocation, Epicanthus, Craniosynostosis, Hypoplasia of mandible relative to maxilla, Cari...	ORPHA:33364
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Wi...	OMIM:180500
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Micrognathia, Short 5th finger, Polydactyly, Ectrodactyly, Small placenta, Clinodacty...	ORPHA:397590
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Choanal atresia, Micrognathia, Cleft palate, Microtia, Atresia of the e...	OMIM:613309
Cerebrocostomandibular Syndrome	Anal stenosis, Congenital hip dislocation, Posteriorly rotated ears, Cleft soft palate, Epicanthu...	OMIM:117650
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Cerebellar atrophy, Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered...	ORPHA:280633
Bruck Syndrome	Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis	ORPHA:2771
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Delayed closure of the anterior fontanelle, Highly arched eyebrow, Tr...	OMIM:618460
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Abnormal pupil morphology, Hearing impairment	ORPHA:101082
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Apert Syndrome	Syndactyly, Finger syndactyly, Limited elbow movement, Preaxial hand polydactyly, Delayed epiphys...	OMIM:101200
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Open bite, Dental crowding, Hyperplasia of the maxilla	OMIM:613671
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Optic disc pallor, Cataract, Neonatal death	OMIM:613730
Retinitis Pigmentosa 47	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy	OMIM:613758
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Micrognathia, Metaphyseal widening, Arachnodactyly, Slender long bones with narrow diaphyses, Sco...	ORPHA:536467
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Micrognathia, Anteverted ears, Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micr...	OMIM:610706
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Ptosis, Epicanthus, Posteriorly rotated ears, Anophthalmia, Underdeveloped n...	ORPHA:264200
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly	OMIM:617157
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath...	ORPHA:783
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormalit...	ORPHA:2753
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Epicanthus, Aganglionic megacolon, Hydrocephalus, Wide ...	OMIM:613603
Crane-Heise Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic ...	ORPHA:1512
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly	OMIM:618381
Gracile Bone Dysplasia	Slender long bone, Hydrocephalus, Flared metaphysis, Brachydactyly	OMIM:602361
Diamond-Blackfan Anemia	Epicanthus, Depressed nasal bridge, Cleft soft palate, Micrognathia, Cleft lip, Developmental gla...	ORPHA:124
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Hearing abnormality, Hip dislocation, Pl...	OMIM:616507
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir...	ORPHA:2554
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Cataract, Narrow nose, Carious teeth, Macr...	ORPHA:90324
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, ...	OMIM:603671
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Pain insensitivity, Sandal gap, Single transverse palmar crease, Tapered finger...	OMIM:617061
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Tapered finger, Short thumb, Clinodactyly of the 5th finger, Enlarged cerebellum, Brachydactyly	ORPHA:477993
Zttk Syndrome	Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, High palate, Short philtr...	OMIM:617140
Posterior Column Ataxia With Retinitis Pigmentosa	Flexion contracture of finger, Bone spicule pigmentation of the retina, Cataract, Decreased senso...	OMIM:609033
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ...	OMIM:253220
Cockayne Syndrome	Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Retinal atrophy, Abnormal den...	ORPHA:191
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Femoral retroversion, Tibial bowing, Femoral bowing, Slender lon...	OMIM:610915
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy	OMIM:551500
Becker Nevus Syndrome	Upper limb asymmetry, Abnormal tibia morphology, Spina bifida occulta, Micromelia	ORPHA:64755
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Otosclerosis, Prominent metopic ridge, Wide anterior fontanel, Abnormal ea...	ORPHA:116
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Otosclerosis 4	Otosclerosis, Mixed hearing impairment	OMIM:611571
Keratoconus 6	Keratoconus	OMIM:614623
Keratoconus 5	Keratoconus	OMIM:614622
Keratoconus 8	Keratoconus	OMIM:614628
Keratoconus 7	Keratoconus	OMIM:614629
Coach Syndrome 2	Coloboma, Hydrocephalus, Chorioretinal coloboma	OMIM:619111
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Smooth philtrum, Dental crowding, Intestinal malrotation, Narrow n...	OMIM:617602
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia, Convex nasal ridge, Sparse lateral eyebrow	OMIM:614564
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the ear, Subcapsular cataract	OMIM:268020
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Pes planus, Single transver...	ORPHA:93932
Fanconi Anemia	Abnormal eyelid morphology, Micrognathia, Abnormality of skin pigmentation, High palate, Spina bi...	ORPHA:84
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v...	ORPHA:1517
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Sensorineural hearing impairment, Short toe, Cone-shaped epiphyses of the phalanges of the hand, ...	OMIM:619269
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Cupped...	OMIM:263750
Bardet-Biedl Syndrome 6	Syndactyly, Pigmentary retinopathy, Postaxial polydactyly	OMIM:605231
Frank-Ter Haar Syndrome	Bowing of the long bones, Micrognathia, Metatarsus adductus, Flared metaphysis, Hip dysplasia, Sh...	OMIM:249420
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Anophthalmia, Submucous cleft hard palate, Anosmia, Single naris, Cleft palate, Bifid u...	ORPHA:2250
Coach Syndrome 1	Encephalocele, Optic disc pallor, Occipital encephalocele, Anteverted nares, Esophageal varix, Wi...	OMIM:216360
Juvenile Paget Disease	Abnormality of retinal pigmentation, Abnormality of the dentition, Optic atrophy, Melanocytic nev...	ORPHA:2801
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Optic disc coloboma, Opacification of the corneal stroma, Hypoplastic...	OMIM:169550
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping fingers, Decreas...	OMIM:612394
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Suleiman-El-Hattab Syndrome	Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly	OMIM:618950
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac...	OMIM:105830
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Short neck, Micrognathia, Shoulder dislocation, Prominent antitragus, Dislocated radial head, Mic...	OMIM:245600
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Anteriorly placed anus, Olig...	OMIM:612289
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Tibial bowing, Congenital bilateral hip dislocation, Limb under...	ORPHA:453510
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Ptosis, Anteverted nares, Cleft soft palate, Highly arched eyebrow, Micrognathia, Wide nasal brid...	ORPHA:2282
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Prominent nose, Micrognathia, Synophrys, Protruding ear, High palate, Wide...	OMIM:612474
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, 4-5 toe syndactyly, 2-3 toe cutaneous syndactyly, Cutaneous finger syndact...	OMIM:613573
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Camptodactyly	OMIM:616006
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Fraser Syndrome	Cleft ala nasi, Anophthalmia, Dental crowding, Orofacial cleft, Malformed lacrimal duct, High pal...	ORPHA:2052
Fryns Syndrome	Tented upper lip vermilion, Microretrognathia, Anteverted nares, Cleft upper lip, Esophageal atre...	OMIM:229850
Dyskeratosis Congenita	Abnormal eyebrow morphology, Cataract, Esophageal stenosis, Hypermelanotic macule, Malabsorption,...	ORPHA:1775
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with...	ORPHA:215
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i...	OMIM:620114
Holoprosencephaly 4	Median cleft lip and palate, Depressed nasal bridge, Median cleft lip, Absent nasal septal cartil...	OMIM:142946
Morning Glory Disc Anomaly	Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract	ORPHA:35737
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h...	ORPHA:52427
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Joubert Syndrome 15	Retinopathy, Coloboma, Retinal dystrophy, Exencephaly	OMIM:614464
Tarp Syndrome	Finger syndactyly, Broad-based gait, Single transverse palmar crease, Rocker bottom foot, Postaxi...	ORPHA:2886
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Limited wrist movement, Abnormal thumb m...	ORPHA:67036
Wolfram Syndrome 1	Cataract, Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Ptosis	OMIM:222300
Bardet-Biedl Syndrome 1	Syndactyly, Bone spicule pigmentation of the retina, Ataxia, Postaxial polydactyly, Postaxial han...	OMIM:209900
Osteogenesis Imperfecta, Type Xxi	Bowing of the legs, Coxa valga, Coxa vara, Platyspondyly, Scoliosis, Bowing of the arm	OMIM:619131
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Protruding ear, Low-set ears, Short palm, Retr...	ORPHA:73246
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Abnormal vertebral morphology	ORPHA:261272
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Choanal atresia, Cleft palate, Abnormality of the sense of...	ORPHA:1135
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Micrognathia, Hydrocephalus, Brachydactyly	ORPHA:2075
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
Ollier Disease	Platyspondyly, Abnormal metaphysis morphology, Micromelia	ORPHA:296
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Micrognathia, Short toe, Limb undergrowth, Umbilical hernia, Short phalanx of finger	OMIM:225410
Cartilage-Hair Hypoplasia	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Anteverted na...	ORPHA:175
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Micrognathia, Short metatarsal, Cubitus valgus, Short 4th metacarpal, Muscle hyper...	ORPHA:1772
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Pseudoleprechaunism Syndrome, Patterson Type	Prominent nose, Flat acetabular roof, Genu valgum, Abnormal mandible condylar process morphology,...	ORPHA:2976
Otosclerosis 10	Otosclerosis	OMIM:615589
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th...	ORPHA:1305
Alg8-Cdg	Brachydactyly, Ataxia, Talipes equinovarus, Camptodactyly	ORPHA:79325
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Joubert Syndrome 17	Ataxia, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Distal Deletion 19P	Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Hypoplasia of the maxilla, Sensorine...	ORPHA:96129
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Brachydactyly	OMIM:614592
Cln3 Disease	Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy	ORPHA:228346
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme...	OMIM:611584
Achondrogenesis	Umbilical hernia, Micromelia, Micrognathia	ORPHA:932
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Tapered finger, Mesomelic/rhizomelic l...	OMIM:605039
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Anteverted nares, Abnormal soft...	ORPHA:884
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa...	ORPHA:3103
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Micrognathia, Brachydactyly	OMIM:620156
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Pigmentary retinopathy, High palate, Abnormality of globe size, ...	ORPHA:502423
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ...	ORPHA:319675
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases	ORPHA:2083
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ...	OMIM:616894
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Heimler Syndrome 1	Retinal pigment epithelial mottling, Sensorineural hearing impairment, Macular dystrophy, Enamel ...	OMIM:234580
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Abnormal pupil morph...	ORPHA:261552
Orofaciodigital Syndrome Type 5	Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ...	ORPHA:2919
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon...	OMIM:269500
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Canavan Disease	Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment	ORPHA:141
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Clinodactyly of the 5th finger, Cubitus valgus, Hypopigmentation of the skin, ...	OMIM:620237
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Small hand, Short foot, Short palm	ORPHA:238750
Myoclonic-Astatic Epilepsy	Syndactyly, Unsteady gait, Ataxia	ORPHA:1942
Thauvin-Robinet-Faivre Syndrome	Epicanthus, Sensorineural hearing impairment, Protruding ear, Macroglossia, Coloboma, Retinal col...	OMIM:617107
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Protruding ear, High palate, Simple ear, Anteverted nares, Depressed nas...	OMIM:619325
Retinitis Pigmentosa 7	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v...	OMIM:608133
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Umbilical hernia, Brachydactyly	ORPHA:3218
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Brachydactyly	OMIM:618265
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fi...	OMIM:619227
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Anotia, Conductiv...	OMIM:164210
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Palmoplantar cutis laxa, Hydr...	OMIM:616482
Schimmelpenning-Feuerstein-Mims Syndrome	Coloboma, Abnormality of dental color, Corneal opacity, Hypopigmentation of the skin	OMIM:163200
Fanconi Anemia, Complementation Group L	Micrognathia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Wide nasal bridge, Cl...	OMIM:614083
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Radio-Tartaglia Syndrome	Pes planus, Ataxia, Micrognathia, Tapered finger, Gait imbalance, Pes cavus, Brachydactyly	OMIM:619312
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Hypopigmented skin patches, Coxa vara, Multiple cafe-au-lait spots, Narrow pelvis bon...	ORPHA:2637
Aprosencephaly And Cerebellar Dysgenesis	Micrognathia, Poorly formed metencephalon, Aprosencephaly, Talipes equinovarus, Cerebellar dysplasia	OMIM:601374
Joubert Syndrome 16	Encephalocele, Coloboma, Retinal dystrophy	OMIM:614465
Restrictive Dermopathy 1	Natal tooth, Entropion, Depressed nasal bridge, Choanal atresia, Narrow nasal ridge, Sparse eyela...	OMIM:275210
Aural Atresia, Congenital	Hyposmia, Conductive hearing impairment, Atresia of the external auditory canal	OMIM:607842
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Spina bifida occulta, En...	ORPHA:2911
Orofaciodigital Syndrome Type 1	Finger syndactyly, Ataxia, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe,...	ORPHA:2750
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	High-frequency sensorineural hearing impairment, Mixed hearing impairment, Epicanthus, Cleft soft...	OMIM:614557
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Micrognathia, Paresthesia, Hyperpigmented nevi, Short distal phalanx of finger,...	ORPHA:2959
Osteoglosphonic Dysplasia	Micrognathia, Rhizomelia, Brachydactyly	ORPHA:2645
Multiple Pterygium Syndrome, Escobar Variant	Short neck, Micrognathia, Camptodactyly of toe, Conductive hearing impairment, Dislocated radial ...	OMIM:265000
Opitz-Kaveggia Syndrome	Syndactyly, Sacral dimple, Lumbar hyperlordosis, Broad hallux, Single transverse palmar crease, S...	OMIM:305450
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hip dislocation, Macroglossia, Pigmentary retinopathy, Open mouth	OMIM:613156
Eec Syndrome	Entropion, Carious teeth, Choanal atresia, Abnormal dental enamel morphology, Keratitis, External...	ORPHA:1896
Proteus Syndrome	Central heterochromia, Abnormality of skin pigmentation, Chorioretinal coloboma, Abnormality of t...	ORPHA:744
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:1563
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome	Atresia of the external auditory canal, Hearing impairment	ORPHA:3023
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Synophrys, Abnormality of the ear, Downturned corners of mouth, Short phil...	ORPHA:3455
Unilateral Ocular Duplication	Encephalocele, Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Cleft pa...	ORPHA:3374
Xeroderma Pigmentosum, Complementation Group B	Cataract, Freckling, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic...	OMIM:610651
Microtia-Anotia	Holoprosencephaly, Anotia, Microtia	OMIM:600674
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Clinodactyly, Myelomeningocele, Hydrocephalus, Short 2nd toe, Poly...	OMIM:311200
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Cowden Syndrome	Ataxia, Abnormal cerebellum morphology, Hypopigmented skin patches, Melanocytic nevus, Palmoplant...	ORPHA:201
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Alstrom Syndrome	Cone/cone-rod dystrophy, Abnormality of the dentition, Gingivitis, Pigmentary retinopathy, Otitis...	OMIM:203800
Meier-Gorlin Syndrome 4	Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Slender long bone, Microtia, Low-set ears	OMIM:613804
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Leigh Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Optic atrophy, Ptosis	OMIM:256000
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Micrognathia, Depressed nasal ridge, Pigmentary retinopathy, High palate, Distichiasis	OMIM:600462
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma	ORPHA:2196
W Syndrome	Telecanthus, Depressed nasal bridge, Broad nasal tip, Elbow dislocation, Submucous cleft hard pal...	ORPHA:2804
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,...	ORPHA:2152
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypoplastic ilia, Flared metaphys...	OMIM:615349
Seckel Syndrome 2	Few cafe-au-lait spots, Micrognathia, Prominent nose, Microdontia, Microphthalmia, Microglossia	OMIM:606744
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi...	ORPHA:261537
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux	OMIM:263630
Hallermann-Streiff Syndrome	Natal tooth, Telecanthus, Sparse eyelashes, Choanal atresia, Underdeveloped nasal alae, Sparse ey...	ORPHA:2108
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly	OMIM:615631
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Talipes, Micrognathia, Absent thumb, Aplasia/Hypoplasia of the...	ORPHA:1234
Chand Syndrome	Short fifth metatarsal, Ataxia	ORPHA:1401
Osteogenesis Imperfecta, Type X	Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Micromelia, Micrognathia, ...	OMIM:613848
Meckel Syndrome, Type 1	Smooth philtrum, Natal tooth, Occipital encephalocele, Thin upper lip vermilion, Camptodactyly of...	OMIM:249000
Amish Lethal Microcephaly	Optic atrophy, Cleft soft palate, Spina bifida, Micrognathia	ORPHA:99742
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Delayed eruption of teeth, Cataract, Conical tooth, ...	OMIM:308300
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Posteriorly rotated ears, Arachnodactyly, Long palm, Tapered finger, Camptodac...	ORPHA:2215
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t...	ORPHA:1292
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Myelomeningocele, Deep palmar crease, Brachydactyly	ORPHA:1752
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal nostril morphology, Anal atresia, Narrow mouth	ORPHA:3469
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Chorioretinitis, Odontogenic keratocysts of the jaw, Coloboma	ORPHA:199276
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph...	ORPHA:536471
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Peripheral retinal avascularization, Tented upper lip vermilion, Micrognat...	ORPHA:96334
Meier-Gorlin Syndrome 3	Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Aplasia/Hypoplasia of the pa...	OMIM:613803
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Short phalanx of finger	OMIM:208060
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Impaired pain sensation, Gait disturbance...	ORPHA:870
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Tal...	OMIM:224410
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hydrocephalus, Hemivertebrae, Umbilical hernia, Low-set e...	OMIM:104350
Axenfeld-Rieger Syndrome, Type 3	Sensorineural hearing impairment, Hypoplasia of the iris, Ectopia pupillae, Concave nasal ridge, ...	OMIM:602482
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Anteverted nares, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia...	ORPHA:238468
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e...	ORPHA:261323
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
Cardiospondylocarpofacial Syndrome	Epicanthus, Telecanthus, Anteverted nares, Tarsal synostosis, Posteriorly rotated ears, Conductiv...	OMIM:157800
Diamond-Blackfan Anemia 7	Choanal atresia, Cleft palate, Atresia of the external auditory canal, Esophagitis, Recurrent oti...	OMIM:612562
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Tolchin-Le Caignec Syndrome	Abnormal vestibular function, Thick eyebrow, Hooded eyelid, Prominent nose, Micrognathia, Sensori...	OMIM:618971
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai...	OMIM:268315
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Coronal cle...	OMIM:620076
Rin2 Syndrome	Pes planus, Umbilical hernia, Brachydactyly	ORPHA:217335
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Lim...	OMIM:166210
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Platyspondyly, Abnormal intervertebral disk morphology	ORPHA:1345
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Neu-Laxova Syndrome 1	Ablepharon, Wide nose, Cataract, Spina bifida, Micrognathia, Absent eyelashes, Swollen lip, Macro...	OMIM:256520
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of the skin, White...	ORPHA:79432
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Patellar dislocation...	ORPHA:2916
Myopathy, Mitochondrial, And Ataxia	Mandibular prognathia, Micrognathia, Pigmentary retinopathy, High palate, Hearing impairment	OMIM:617675
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r...	ORPHA:2021
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Sensorineural hearing impairment, Ulnar deviation of...	OMIM:122880
Neuromuscular Oculoauditory Syndrome	Epicanthus, Posteriorly rotated ears, Decreased nerve conduction velocity, Chorioretinal lacunae,...	OMIM:618733
Cole-Carpenter Syndrome 2	Microretrognathia, Kyphosis, Hydrocephalus, Platyspondyly, Narrow iliac wing, Dentinogenesis impe...	OMIM:616294
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Short palm, Hyperpigmentation of the skin, Brachydactyly	ORPHA:2176
You-Hoover-Fong Syndrome	Clinodactyly, Ataxia, Brachydactyly	OMIM:616954
Methylcobalamin Deficiency Type Cble	Syndactyly, Clinodactyly, Hydrocephalus	ORPHA:2169
Joubert Syndrome 28	Optic disc pallor, Wide nasal bridge, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Brachydactyly	ORPHA:1133
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,...	OMIM:269400
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Prominent nose, Micrognathia, Deep philtrum, Protruding...	OMIM:150230
Ramon Syndrome	Delayed eruption of teeth, Optic disc pallor, Gingival fibromatosis, Narrow palate, Pigmentary re...	OMIM:266270
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, T...	ORPHA:466768
Toriello-Carey Syndrome	Micrognathia, Aplasia/Hypoplasia of the cerebellum, Clinodactyly, Dandy-Walker malformation, Brac...	ORPHA:3338
Mucopolysaccharidosis, Type X	Hyperlordosis, Genu valgum, Platyspondyly, Posterior scalloping of vertebral bodies, Hip dysplasi...	OMIM:619698
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Pigmentary retinopathy, Optic atrophy, Ptosis	OMIM:252011
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Prominent nose, Micrognathia, Synophrys, Multiple joint d...	OMIM:619503
Tetraamelia Syndrome 1	Cataract, Choanal atresia, Micrognathia, Cleft upper lip, Hydrocephalus, Single naris, Cleft pala...	OMIM:273395
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Medial flaring of the eyebrow, Prominent nasal bridge, Pigment...	ORPHA:110
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver...	OMIM:618641
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Pes valgus, Brachydactyly	OMIM:619995
Lymphedema-Hypoparathyroidism Syndrome	Increased carrying angle, Brachydactyly	OMIM:247410
Cerebrocostomandibular Syndrome	Hydranencephaly, Spina bifida, Micrognathia, Myelomeningocele, Meningocele, Cleft palate, Glossop...	ORPHA:1393
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Entropion, Anteverted nares, Dental crowding, Broad nasal tip, Hypoplasia ...	OMIM:617402
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bones, Increased interve...	OMIM:607944
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Craniofacial osteosclerosis, Hydrocepha...	OMIM:618476
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint dislocation, Retinal detachment, Keratoconus, Congenital hip dislocation, Depressed nasal b...	OMIM:225400
Double Outlet Right Ventricle	Depressed nasal bridge, Intestinal malrotation, Abnormality of cartilage of external ear, Submuco...	ORPHA:3426
Gm1 Gangliosidosis	Mandibular prognathia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal form of the ver...	ORPHA:354
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Galloway-Mowat Syndrome 3	Epicanthus, Hiatus hernia, Micrognathia, Hip dislocation, High palate, Low-set ears, Narrow mouth...	OMIM:617729
Native American Myopathy	Micrognathia, Conductive hearing impairment, Bilateral ptosis, Cleft palate, Downturned corners o...	ORPHA:168572
Prader-Willi Syndrome	Syndactyly, Hypopigmentation of hair, Impaired pain sensation, Acromicria, Small hand, Narrow pal...	OMIM:176270
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, He...	ORPHA:636
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P...	OMIM:617123
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Mgat2-Cdg	Cerebellar hypoplasia, Brachydactyly	ORPHA:79329
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Atresia of the external auditory canal	OMIM:209770
Neonatal Marfan Syndrome	Iridodonesis, Ectopia lentis, Micrognathia, High, narrow palate, Wide nasal bridge, Low-set ears,...	ORPHA:284979
Primrose Syndrome	Hypoplasia of the maxilla, Synophrys, Knee flexion contracture, Downturned corners of mouth, High...	OMIM:259050
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Abnormal dental enamel morphology, Abnormality of the hand, Camp...	ORPHA:2273
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Ayme-Gripp Syndrome	Tapered finger, Chiari type I malformation, Radioulnar synostosis, Camptodactyly, Brachydactyly	OMIM:601088
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Coxa vara, Wrist flexion contracture, Low-set, posteriorly ...	ORPHA:800
Floating-Harbor Syndrome	Narrow nasal bridge, Enlarged joints, Persistence of primary teeth, Long nose, Broad nasal tip, L...	ORPHA:2044
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Distal Duplication 5Q	Hypoplasia of the ulna, Micrognathia, Absent thumb, Hypoplasia of the radius, Brachydactyly	ORPHA:96097
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Sensorineural hearing impairment, Conjunctivitis	OMIM:242150
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem...	OMIM:610759
Prader-Willi Syndrome Due To Translocation	Pes planus, Hypopigmentation of hair, Overlapping toe, Iris hypopigmentation, Micrognathia, Small...	ORPHA:177907
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Aplastic clavicle, Micrognathia, Short middle phalanx of the 2nd finger, Ab...	OMIM:119600
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Syndactyly, Hypermelanotic macule, Broad palm, Clinodactyly of the 5th finger, Cafe-au-lait spot	OMIM:618505
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Smooth philtrum, Cataract, Depressed nasal bridge, Craniosynostosis, Micrognathia, Microdontia, D...	OMIM:620005
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Bruck Syndrome 2	Platyspondyly, Elbow flexion contracture, Talipes equinovarus, Femoral bowing	OMIM:609220
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Peters anomaly, Cleft upper lip, Hydrocephalus, Cleft palate, Buphthalmo...	OMIM:613150
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Depressed nasal bridge, Broad nasal tip, Cleft lip, Cupped ear, Narrow palate, Depres...	OMIM:618223
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Downturned corners of mouth, Short philtrum, Conductive hearing im...	OMIM:194190
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Alagille Syndrome 1	Cataract, Depressed nasal bridge, Band keratopathy, Long nose, Bulbous nose, Macrotia, Chorioreti...	OMIM:118450
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat...	ORPHA:289
Woolly Hair	Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars...	ORPHA:170
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Lethal Acantholytic Erosive Disorder	Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Abnormal he...	ORPHA:158687
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly	ORPHA:2182
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti...	OMIM:267750
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal nasolacrimal system morphology, Choanal atresia, Facial palsy, Ab...	ORPHA:2658
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th...	ORPHA:1225
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus	ORPHA:397951
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Retinitis Pigmentosa 69	Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy	OMIM:615780
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Ataxia, Brachydactyly	ORPHA:168577
Werner Syndrome	Abnormality of retinal pigmentation, Cataract, Premature graying of hair, White forelock, Neoplas...	ORPHA:902
Gm1 Gangliosidosis Type 1	Broad long bone diaphyses, Hypoplastic vertebral bodies, Platyspondyly, Flared iliac wing, Short ...	ORPHA:79255
Fraser Syndrome 2	Wide nose, Intestinal malrotation, Underdeveloped nasal alae, Rectal atresia, Atresia of the exte...	OMIM:617666
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Kbg Syndrome	Vertebral fusion, Syndactyly, Posteriorly rotated ears, Single transverse palmar crease, Short ne...	OMIM:148050
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middl...	OMIM:136140
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Vertebral clefting, Platyspondyly, Unossified vertebral bodies, M...	OMIM:241500
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Lymphedema-Distichiasis Syndrome	Ectropion, Micrognathia, Cleft upper lip, Cleft palate, Distichiasis, Conjunctivitis, Recurrent c...	OMIM:153400
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Metopic synostos...	OMIM:604757
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Dental crowding, Ectopia lenti...	ORPHA:394
Long Qt Syndrome 8	Syndactyly	OMIM:618447
Adams-Oliver Syndrome 5	Syndactyly, Umbilical hernia, Brachydactyly	OMIM:616028
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, 2-3 toe syndacty...	OMIM:614099
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Posteriorly rotated ears, Camptodactyly of finger, Abnormal nasolacrimal system morphology, Promi...	ORPHA:3047
Dpm1-Cdg	Sandal gap, Micrognathia, Camptodactyly, Limb undergrowth, Long hallux	ORPHA:79322
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd...	ORPHA:3015
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth, Short philtrum, Bifid uvu...	ORPHA:500150
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hypoplasia ...	OMIM:619321
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Micromelia	ORPHA:2772
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adduct...	OMIM:227330
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Absent frontal sinuses, Anosmia, Abnormal cornea mo...	OMIM:244400
Blepharonasofacial Malformation Syndrome	Finger syndactyly	ORPHA:1252
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Con...	OMIM:278730
Microphthalmia, Isolated 8	Retinal detachment, Entropion, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Re...	OMIM:615113
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinal Cone Dystrophy 4	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling	OMIM:610478
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Brachydactyly, Short long bone, Short palm	OMIM:619184
Autosomal Recessive Spastic Paraplegia Type 15	Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina	ORPHA:100996
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolytic defects of the distal phalang...	OMIM:265800
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Short clavic...	ORPHA:313855
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Flexion contracture of finger, Cataract, Pigmentary reti...	ORPHA:88628
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Chronic ...	ORPHA:1507
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, High palate, Broad uvula, Bifid uvula, Micr...	OMIM:619472
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Retrognathia, Ptosis	ORPHA:466722
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt...	ORPHA:2481
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Gorham-Stout Disease	Abnormality of the temporomandibular joint, Abnormal facial skeleton morphology, Abnormal ethmoid...	ORPHA:73
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Gm1-Gangliosidosis, Type Ii	Coxa valga, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoliosis, Thoracolumb...	OMIM:230600
Marden-Walker Syndrome	Posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Pyloric stenosis, Hydrocephalus,...	ORPHA:2461
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, High palate, Ptosis	OMIM:220110
Retinitis Pigmentosa 96	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning	OMIM:620228
Ring Chromosome 12 Syndrome	Syndactyly, Lumbar hyperlordosis, Abnormal 5th finger morphology, Microtia, Symphalangism of the ...	ORPHA:1439
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Micrognathia, Aplasia...	OMIM:151050
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop...	OMIM:300578
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran...	OMIM:303600
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Keratoconus, Retinal degeneration	ORPHA:542306
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Ablepharon-Macrostomia Syndrome	Short metacarpal, Toe syndactyly, Cutaneous finger syndactyly, Talipes equinovarus, Camptodactyly...	OMIM:200110
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy	OMIM:618234
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Adducted thumb, Micromelia, Bilateral single transverse palmar creases	ORPHA:50810
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Syndactyly, Cerebellar vermis hypoplasia, Polydactyly	OMIM:619869
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg...	OMIM:610442
Diarrhea 10, Protein-Losing Enteropathy Type	Micrognathia, Recurrent upper respiratory tract infections, Coloboma, Protein-losing enteropathy,...	OMIM:618183
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ptosis, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas, Hearing impairment	OMIM:560000
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Cutaneous syndactyly	ORPHA:2890
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormality of skin pigmentation, Palmoplantar kerato...	ORPHA:2908
Degcags Syndrome	Prominent nose, Micrognathia, Synophrys, Abnormality of skin pigmentation, Premature graying of h...	OMIM:619488
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Mosaic Trisomy 16	Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Short thumb, Clinodactyly, ...	ORPHA:1708
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con...	OMIM:617304
Esophageal Atresia	Barrett esophagus, Choanal atresia, Intestinal malrotation, Hearing impairment, Pyloric stenosis,...	ORPHA:1199
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Retinal Dystrophy With Or Without Macular Staphyloma	Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ...	OMIM:617547
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormal pupi...	ORPHA:286
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Single transverse palmar crease	ORPHA:79243
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Loeys-Dietz Syndrome 2	Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia,...	OMIM:610168
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Downturned corners of mouth, Small earlobe, Genu varum, Absent eyebrow, Anteverted ...	OMIM:264090
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait ...	ORPHA:1969
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Proximal placement of thum...	OMIM:122470
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Short foot, Cl...	ORPHA:1974
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener...	OMIM:611131
Trichinellosis	Facial palsy, Trismus, Vertigo, Retinal hemorrhage, Central retinal artery occlusion, Anisocoria,...	ORPHA:863
Cinca Syndrome	Brachydactyly	ORPHA:1451
Odontoonychodermal Dysplasia	Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel...	OMIM:257980
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Hamamy Syndrome	Long toe, Syndactyly, Down-sloping shoulders, Micrognathia, Tapered finger, Long fingers, Sensori...	OMIM:611174
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Smooth philtrum, Macular coloboma, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Abnormal...	ORPHA:79282
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Epicanthus, Telecanthus, Hydrocephalus, Optic atrophy, Macro...	ORPHA:505248
8Q24.3 Microdeletion Syndrome	Branchial cyst, Congenital hip dislocation, Cleft maxillary alveolar ridge, Spina bifida occulta,...	ORPHA:508488
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Chorea, Elbow flexion con...	OMIM:619777
Fibrous Dysplasia Of Bone	Abnormal zygomatic bone morphology, Abnormal facial skeleton morphology, Abnormal mandible morpho...	ORPHA:249
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Bowing of the legs, Aplasia/Hypoplasia of the patella, Preaxial hand polyd...	OMIM:617063
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Brachydactyly	OMIM:610253
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Toe clinodactyly, Clinodactyly of ...	ORPHA:217346
White-Sutton Syndrome	Waddling gait, Micrognathia, Broad thumb, Broad foot, Hypoplastic cervical vertebrae, Brachydactyly	OMIM:616364
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Umbilical hernia, Clinodactyly of the 5th f...	OMIM:304110
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micromelia, Aplastic clavicle, Postaxial polydactyly, Hydrocephalus, Preaxial polydactyly, Anence...	OMIM:616546
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Glutamine Deficiency, Congenital	Micromelia, Camptodactyly	OMIM:610015
Bencze Syndrome	Upslanted palpebral fissure, Telecanthus, Submucous cleft hard palate, Open bite	ORPHA:1241
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Everted upper lip vermilion, Depressed nasal bridge, Sparse eyelashes, Abnormal o...	OMIM:305100
Williams Syndrome	Micrognathia, Rectal prolapse, Protruding ear, Chronic otitis media, Microdontia, Megalocornea, S...	ORPHA:904
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Delayed eruption of primary teeth, Lacrimal duct atresia, Hyperpigmented streaks, M...	OMIM:300952
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Desmoid Tumor	Intestinal polyposis, Abnormality of retinal pigmentation, Intestinal obstruction, Malabsorption	ORPHA:873
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Brachydactyly	ORPHA:457193
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Spondyloocular Syndrome	Long toe, Posteriorly rotated ears, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers...	OMIM:605822
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Smooth philtrum, Epicanthus, Highly arched eyebrow, Anisocoria, Anteriorly placed anus, Narrow pa...	OMIM:618653
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling, Tented upper lip vermilion, Thin upper lip vermilion	OMIM:619517
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Ab...	OMIM:618050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae...	OMIM:613154
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Split hand, Split foot...	ORPHA:2008
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Abnormal vestibular function, Cataract, Intestinal pseudo-obstruction, Retinal pigment epithelial...	OMIM:607459
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia, Ankyloblepharon, Sclerocornea	OMIM:611038
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Finger syndactyly, Occipital encephalocele, Abnormal intervert...	ORPHA:887
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Mixed hearing impairment, Brachydactyly, Posteriorly rotate...	ORPHA:97360
Macs Syndrome	Pes planus, Single transverse palmar crease, Micrognathia, Umbilical hernia, Brachydactyly	OMIM:613075
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition	OMIM:183400
Kabuki Syndrome 2	Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachydactyly	OMIM:300867
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly	ORPHA:66629
X Small Rings	Toe syndactyly, Tapered finger, 2-3 toe syndactyly, Upper limb undergrowth, Cutaneous syndactyly,...	ORPHA:96201
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis	OMIM:615220
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pigmentary retinopathy, Hip dislocation	OMIM:619059
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Hydrocephalus, Long hallux, Brachydactyly	OMIM:259775
Congenital Fibrinogen Deficiency	Microphthalmia, Volvulus, Gingival bleeding, Developmental cataract	ORPHA:335
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Ataxia, Micrognathia, Clinodactyly of the 5th fing...	OMIM:617062
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Eyelid coloboma, L...	OMIM:613001
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Keratoconus, Epicanthus, Malabsorption, Elbow dislocation, Decreased nerve con...	ORPHA:285
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,...	ORPHA:1855
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina...	ORPHA:5
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Split hand, Fibrous syngnathia, Scoliosis	ORPHA:1300
Schimke Immunoosseous Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis, Later...	OMIM:242900
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Micrognathia, Synophrys, Abnormality of dermal melanosomes, Dental malocclusion, Wide...	ORPHA:73223
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Micro...	ORPHA:2636
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Short neck, Abnorma...	ORPHA:1830
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Umbilical hernia	OMIM:614520
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Generalized hyperpigmentation, Short palm	ORPHA:3339
Turner Syndrome Due To Structural X Chromosome Anomalies	Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor...	ORPHA:99413
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:601353
Mosaic Monosomy X	Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor...	ORPHA:99228
Monosomy X	Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor...	ORPHA:99226
Turner Syndrome	Pes planus, Hypermobility of toe joints, Micrognathia, Numerous congenital melanocytic nevi, Shor...	ORPHA:881
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Sensorineural hearing impairment, Submucous cleft hard palate, Spinal dysraphism, Incomplete part...	OMIM:617660
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Tongue atrophy, Sensorineural hearing impairment, Opti...	ORPHA:99949
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome	2-3 finger syndactyly	ORPHA:1338
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Micrognathia, Hearing abnormality, Symphalangism affe...	ORPHA:2990
Fraser Syndrome 3	Short toe, Micrognathia, Hydrocephalus, Cutaneous syndactyly	OMIM:617667
Hardikar Syndrome	Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Vertigo, Esoph...	OMIM:301068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia	OMIM:616538
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Persistence of primary teeth, Carious teeth, Bilateral microphthalmos, Developmental...	ORPHA:93325
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Microphthalmia, Cyclopia, Ethmocephaly,...	OMIM:236100
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Orthostatic Hypotension 1	Brachydactyly	OMIM:223360
Autosomal Dominant Robinow Syndrome	Micromelia, Short neck, Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Coxa ...	ORPHA:3107
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Chromosome 16Q12 Duplication Syndrome	Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria	OMIM:619649
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Micrognathia, Lower limb asymmetry, Clinodactyly of...	ORPHA:96182
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, B...	ORPHA:2211
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Long foot, Broad 2nd toe, Palmoplantar hyperkeratosis, Gait ataxia, Large hands...	OMIM:280000
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Iris hypoperfusion, Retinal vein occlusion, Pseud...	OMIM:177650
Birk-Barel Syndrome	Microretrognathia, Tented upper lip vermilion, Highly arched eyebrow, Long eyelashes, High palate...	OMIM:612292
Laurence-Moon Syndrome	Pigmentary retinopathy, Chorioretinal atrophy	OMIM:245800
Adult Syndrome	Finger syndactyly, Toe syndactyly, Melanocytic nevus, Split foot, Freckling	ORPHA:978
Fanconi Anemia, Complementation Group G	Multiple cafe-au-lait spots, Microphthalmia	OMIM:614082
Constricting Bands, Congenital	Encephalocele, Syndactyly, Hand polydactyly, Talipes equinovarus	OMIM:217100
Dominant Beta-Thalassemia	Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Genu valgum, Upslanted pa...	ORPHA:231226
Congenital Bile Acid Synthesis Defect Type 4	Pigmentary retinopathy, Cataract	ORPHA:79095
Adnp Syndrome	Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology, Abnormal fing...	ORPHA:404448
Congenital Fibrosis Of Extraocular Muscles	Cataract, Optic nerve hypoplasia, Congenital sensorineural hearing impairment, Levator palpebrae ...	ORPHA:45358
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Small...	OMIM:180700
Isolated Succinate-Coq Reductase Deficiency	Pigmentary retinopathy, Knee flexion contracture	ORPHA:3208
Timothy Syndrome	Cutaneous syndactyly	OMIM:601005
Bloom Syndrome	Syndactyly, Spotty hypopigmentation, Hand polydactyly, Clinodactyly of the 5th finger, Cafe-au-la...	OMIM:210900
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Brushfield spots, Broad palm...	OMIM:190685
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Esophageal stenosis, Hearing impairment, Prominent nose, Anisocoria, Dow...	OMIM:615510
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Single transverse palmar crease, Branchial anomaly, Pes valgus, Short palm, Prominent...	ORPHA:466950
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Cone-Rod Dystrophy 20	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina	OMIM:615973
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Neurooculorenal Syndrome	Iris atrophy, Mixed hearing impairment, Intestinal malrotation, Highly arched eyebrow, Micrognath...	OMIM:620305
Cerebellar Ataxia-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1173
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hydrocephalus, Pigmentary retinopathy, Low-set ears, Macrotia, Smooth philtrum	OMIM:277400
Townes-Brocks Syndrome	Rectoperineal fistula, Cataract, Blepharophimosis, External ear malformation, Anteriorly placed a...	ORPHA:857
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Pigmentary retinopathy, Optic atrophy, Bilateral sensorineural hearing impairment, Ptosis	ORPHA:436271
Retinitis Pigmentosa 51	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:613464
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia, Narrow mouth	OMIM:614833
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Pes planus, Micrognathia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneou...	OMIM:620029
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus...	OMIM:606170
Kearns-Sayre Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Ptosis	OMIM:530000
Alpha-Mannosidosis, Infantile Form	Mandibular prognathia, Communicating hydrocephalus, Mixed hearing impairment, Short neck, Sensori...	ORPHA:309282
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Camptodactyly Syndrome, Guadalajara Type 3	Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad femoral neck,...	ORPHA:488434
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Communicating hydrocephalus, Dev...	ORPHA:2119
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Optic nerve hypoplasia, Depressed nasal ridge, Holoprosencephaly, Median c...	ORPHA:95494
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormality of the tongue, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Restrictive Dermopathy	Natal tooth, Aplasia/Hypoplasia involving the nose, Telecanthus, Entropion, Choanal atresia, Camp...	ORPHA:1662
Abetalipoproteinemia	Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Corneal ulceration, Steatorrhea,...	ORPHA:14
Simpson-Golabi-Behmel Syndrome	Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of finger, Short 2nd...	ORPHA:373
Retinitis Pigmentosa 75	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Mixed astigmatism, Attenuation of re...	OMIM:617023
Maternal Uniparental Disomy Of Chromosome 4	Sensorineural hearing impairment, Optic atrophy, Pigmentary retinopathy, Fat malabsorption, Rod-c...	ORPHA:96180
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Cleft ...	ORPHA:790
Hydrolethalus Syndrome 1	Median cleft lip, Abnormal pinna morphology, Micrognathia, Anencephaly, Cleft palate, Stillbirth,...	OMIM:236680
Fanconi Anemia, Complementation Group F	Microtia, Conductive hearing impairment, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of ...	OMIM:603467
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Cataract, Narrow nasal ridge, Developmental cataract, Pigmentary retinop...	OMIM:606721
Maternal Phenylketonuria	Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb	ORPHA:2209
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge	ORPHA:2835
Meckel Syndrome, Type 4	Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Cleft palate, Microphthalmia	OMIM:611134
Beta-Thalassemia Major	Depressed nasal bridge, Malar prominence, Abnormality of the dentition, Genu valgum, Upslanted pa...	ORPHA:231214
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Increased intervertebral space, Broad ischia, Diaphyseal dysplasia, Platys...	OMIM:619727
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Decreased nerve conduct...	ORPHA:167
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Wide nose, Anteverted nares, Long philtrum	ORPHA:3074
Pearson Syndrome	Ptosis, Cataract, Hearing impairment, Corneal stromal edema, Pigmentary retinopathy, Steatorrhea,...	ORPHA:699
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation	ORPHA:96
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal...	OMIM:606519
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Bilateral microphthalmos, Wide nasal bridge, Neonatal death, Low-set ...	OMIM:601186
Retinitis Pigmentosa 3	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence	OMIM:300029
Carpenter Syndrome 2	Short digit, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Coxa v...	OMIM:614976
Charcot-Marie-Tooth Disease Type 1E	Decreased nerve conduction velocity, Abnormal pupil morphology, Sensorineural hearing impairment,...	ORPHA:90658
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Micrognathia, Abnormality of the lower limb, Abnormality of th...	ORPHA:1556
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Singleton-Merten Syndrome 1	Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Hip di...	OMIM:182250
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Micro...	DECIPHER:81
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia, Low-set ears, Duodenal stenosis	ORPHA:2470
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Downslanted palpebral fissures, Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Ro...	OMIM:192445
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Cleft palate, Microphthalmia	OMIM:603194
Linear Nevus Sebaceus Syndrome	Telecanthus, Genu recurvatum, Melanocytic nevus, Microphthalmia, Irregular hyperpigmentation, Iri...	ORPHA:2612
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Retinal hemorrhage, Dev...	OMIM:175780
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Microphthalmia	OMIM:611561
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Few cafe-au-lait spots, Pain insensitivity, Cerebellar vermis hypoplasia, Sandal gap, Broad-based...	OMIM:620330
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly, Scoliosis, Biconcav...	OMIM:259770
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly	ORPHA:847
Retinitis Pigmentosa 87 With Choroidal Involvement	Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ...	OMIM:618697
Pgm3-Cdg	Decreased/absent ankle reflexes, Ataxia, Brachydactyly	ORPHA:443811
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Narrow nasal bridge, Dental crowding, Prominent nose, High, narrow palate, Narrow mouth, Upslante...	OMIM:300967
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Broad finger, Limb undergrowth, Clinodactyly	ORPHA:488632
Fanconi Anemia, Complementation Group D2	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Abnormality of skin pigmentation, L...	OMIM:227646
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Abnormality of retinal pigmentation, Craniosynostosis	ORPHA:1496
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Atypical Werner Syndrome	Abnormality of retinal pigmentation, Micrognathia, Patchy hypo- and hyperpigmentation, Developmen...	ORPHA:79474
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature, Apla...	ORPHA:1521
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Proximal Renal Tubular Acidosis	Cataract, Band keratopathy, Malabsorption, Enamel hypomineralization, Coloboma	ORPHA:47159
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Congenital hip dislocation, Lagophthalmos, Bilateral ...	ORPHA:404454
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Tapered finger, Micrognathia, Small hand, Short foot, Camptodactyly, Clinodactyl...	OMIM:309590
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Hypopigmented skin patches, Palmoplantar hyperkeratos...	ORPHA:2907
Familial Dysautonomia	Orthostatic hypotension, Corneal opacity, Corneal erosion, Abnormal pupil morphology, Optic atrop...	ORPHA:1764
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Pes planus, Talipes, Spina bifida, Missi...	ORPHA:2308
Noonan Syndrome	Micrognathia, Melanocytic nevus, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydac...	ORPHA:648
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Tubulointerstitial Nephritis And Uveitis Syndrome	Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran...	ORPHA:91500
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Brachydactyly	ORPHA:466943
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Monosomy 22	Low-set, posteriorly rotated ears, Finger syndactyly, Single transverse palmar crease, Short neck...	ORPHA:96123
Faciocardiomelic Syndrome	Telecanthus, Depressed nasal bridge, Anteverted nares, Micrognathia, Dental malocclusion, Hyperpl...	OMIM:612731
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Chops Syndrome	Brachydactyly	OMIM:616368
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Meester-Loeys Syndrome	Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Umbilical hernia, Brac...	OMIM:300989
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla	ORPHA:3044
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly	OMIM:616541
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ...	OMIM:192350
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Micrognathia, Postaxial hand polydactyly, Polydactyly, Short ribs, Mesome...	OMIM:613610
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly	OMIM:224120
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Coronal cleft vertebrae, Talipes equinovarus...	OMIM:620025
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Optic atrophy, Unilateral microphthalmos	OMIM:615085
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Umbilical hernia, Brachydactyly	ORPHA:1519
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn...	OMIM:601803
Kenny-Caffey Syndrome, Type 2	Papilledema, Delayed closure of the anterior fontanelle, Developmental cataract, Retinal calcific...	OMIM:127000
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Hip dislocation	OMIM:618005
Developmental And Epileptic Encephalopathy 89	Limb undergrowth, Microretrognathia, Talipes equinovarus	OMIM:619124
Fanconi Anemia, Complementation Group J	Multiple cafe-au-lait spots, Microphthalmia	OMIM:609054
Melas	Intestinal pseudo-obstruction, Sensorineural hearing impairment, Optic atrophy, Pigmentary retino...	ORPHA:550
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Retrognathia, Abnormality iris morphology	ORPHA:91387
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Biliary, Renal, Neurologic, And Skeletal Syndrome	Depressed nasal bridge, Anteverted nares, Aqueductal stenosis, Hydrocephalus, Esophageal varix, P...	OMIM:619534
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Aceruloplasminemia	Blepharospasm, Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration	ORPHA:48818
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Ptosis	OMIM:612291
Fanconi Anemia, Complementation Group R	Microphthalmia, Hydrocephalus, Anal atresia, Agenesis of permanent teeth	OMIM:617244
Pyknoachondrogenesis	Micromelia, Short iliac bones, Abnormal iliac wing morphology, Short long bone, Short ribs, Aplas...	ORPHA:3003
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Nasolacrimal duct obstruction, Ant...	OMIM:248450
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities	Blepharospasm, Optic disc pallor, Optic atrophy, Pigmentary retinopathy	OMIM:617282
Tooth Agenesis, Selective, 4	Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ...	OMIM:150400
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology, Aganglionic megacolon	ORPHA:2151
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Bifid nasal tip, Upper eyelid coloboma, Nasolacrimal duct obstructio...	ORPHA:2717
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P...	OMIM:236700
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Ocular albinism, Short foot, Hip...	ORPHA:1606
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Hydrocephalus, Short foot, Clino...	ORPHA:709
Slc39A8-Cdg	Limb undergrowth, Cutaneous syndactyly of toes, Elbow flexion contracture	ORPHA:468699
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, P...	OMIM:619297
Phakomatosis Pigmentokeratotica	Coloboma, Spina bifida, Melanocytic nevus	ORPHA:2874
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Keratoconus	OMIM:609438
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Ethmoidal encephalocele	ORPHA:280195
Revesz Syndrome	Leukocoria, Fine, reticulate skin pigmentation, Exudative retinopathy, Megalocornea, Oral leukopl...	OMIM:268130
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Hip subluxation, Bra...	ORPHA:444077
Fanconi Anemia, Complementation Group C	Epicanthus, Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Hearing impairment	OMIM:227645
Leukocyte Adhesion Deficiency Type Ii	Limb undergrowth, Umbilical hernia, Overlapping toe, Broad palm	ORPHA:99843
Stüve-Wiedemann Syndrome	Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio...	ORPHA:3206
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis, Genu valgum, ...	OMIM:304150
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals	ORPHA:411629
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Pigmentary retinopathy, Rod-cone dystrophy, Abnormality of the dentition	ORPHA:2235
Ehlers-Danlos Syndrome, Vascular Type	Keratoconus, Narrow nasal ridge, Thin vermilion border, Periodontitis, Premature loss of teeth, A...	OMIM:130050
Collagenoma, Familial Cutaneous	Iris atrophy, Sensorineural hearing impairment	OMIM:115250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Abnormal pelvic girdle bone morphology, Platyspondyly, Sinusitis, Growth arrest lines	OMIM:102700
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Pantothenate Kinase-Associated Neurodegeneration	Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy...	ORPHA:157850
Fanconi Anemia, Complementation Group E	Microphthalmia, Cafe-au-lait spot, Hyperpigmentation of the skin, Hearing impairment	OMIM:600901
Hennekam Syndrome	Delayed eruption of teeth, Finger syndactyly, Camptodactyly of finger, External ear malformation,...	ORPHA:2136
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Fanconi Anemia, Complementation Group A	Abnormality of skin pigmentation, Microphthalmia, Cafe-au-lait spot, Hearing impairment	OMIM:227650
Mitochondrial Dna-Associated Leigh Syndrome	Pigmentary retinopathy, Sensorineural hearing impairment, Rod-cone dystrophy, Optic atrophy	ORPHA:255210
Semilobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:220386
Alobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Proboscis, Sensorineural hearing impairment, Hydrocephalus, Depressed nasal rid...	ORPHA:93924
Acrocephalopolydactylous Dysplasia	Postaxial hand polydactyly, Micromelia	OMIM:200995
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Wrist swelling, Kyphosis, Hip dislocation, Genu valgum, Platyspondyly, F...	OMIM:309000
Osteogenesis Imperfecta, Type Vii	Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of...	OMIM:610682
Osteogenesis Imperfecta	Bowing of the long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Micrognathia, Fractures of...	ORPHA:666
Noonan Syndrome 1	Micrognathia, Radial deviation of finger, Cubitus valgus, Clinodactyly, Cafe-au-lait spot, Brachy...	OMIM:163950
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Cystinosis, Nephropathic	Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Genu...	OMIM:219800
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Pes planus, Tapered finger, Micrognathia, Talipes calcaneovalgus, Genu valgum, Talipes equinovaru...	OMIM:309580
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Ankle clonus, Talipes valgus, Submucous cleft hard palate, Narrow nose	OMIM:618891
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy	OMIM:609015
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy	ORPHA:746
Chromosome 14Q11-Q22 Deletion Syndrome	Micrognathia, Hip subluxation, Mesomelia	OMIM:613457
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Pigmentary retinopathy	ORPHA:71212
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Impaired pain sensation, Brachydactyly	ORPHA:293987
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ptosis	OMIM:146500
Retinoblastoma	Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
C Syndrome	Toe syndactyly, Micromelia, Micrognathia, Hand polydactyly, Clinodactyly of the 5th finger, Dislo...	ORPHA:1308
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Deep palmar crease, Micromelia	ORPHA:1675
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Aspartylglucosaminuria	Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verteb...	OMIM:208400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossification, Postaxial...	ORPHA:93271
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Hyperpigmentation of the skin, Optic atrophy, Blepharospasm, Pigmentary retinopat...	OMIM:234200
Night Blindness, Congenital Stationary, Type 1B	Congenital stationary night blindness, Bone spicule pigmentation of the retina	OMIM:257270
Pmm2-Cdg	Mandibular prognathia, Abnormal pinna morphology, Kyphoscoliosis, Long fingers, Macrotia, Platysp...	ORPHA:79318

Histopathology

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

There is no histopathology data for Gas1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gas1.

No publications found that use IMPC mice or data for Gas1.

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MGI Allele	Allele Type	Produced
Gas1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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