Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Spry4 MGI:1345144

Gene Summary

Name:

sprouty RTK signaling antagonist 4

Synonyms:

sprouty4, A030006O18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased grip strength	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	1.08×10^-18
brachydactyly	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	6.61×10^-08
decreased fasting circulating glucose level	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	1.51×10^-12
abnormal digit morphology	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	1.07×10^-13
corneal opacity	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	5.10×10^-05
short tibia	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	1.07×10^-07
abnormal cornea morphology	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	5.10×10^-05
hyperactivity	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	5.72×10^-05
narrow eye opening	Spry4^{tm1b(KOMP)Mbp}	HOM	Early adult	3.54×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

X-ray

XRay Images Skull Lateral Orientation

13 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

View images

X-ray

XRay Images Hind Leg and Hip

13 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

View images

X-ray

XRay Images Forepaw

13 Images

View images

Eye Morphology

Images Slit Lamp

5 Images

View images

Human diseases caused by Spry4 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 Spry4 (3 diseases)
Human diseases predicted to be associated with Spry4 (1381 diseases)

The table below shows human diseases associated to Spry4 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Abnormality of the dentition	OMIM:615266
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Abnormality of the dentition, Cleft palate, Camptodactyly, Delayed puberty	ORPHA:432
Kallmann Syndrome	Tooth agenesis, Cleft palate	ORPHA:478

The table below shows human diseases predicted to be associated to Spry4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Tooth Agenesis, Selective, 1	Hypodontia	OMIM:106600
Anodontia Of Permanent Dentition	Anodontia	OMIM:206780
Malposition Of Teeth With Or Without Hypodontia/Oligodontia	Tooth malposition, Hypodontia	OMIM:189490
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia	ORPHA:3196
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Canine Teeth, Absence Of Upper Permanent	Agenesis of canine	OMIM:114600
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2	Amelogenesis imperfecta	OMIM:301201
Amelogenesis Imperfecta, Hypomaturation Type, Iia3	Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta	OMIM:613211
Amelogenesis Imperfecta, Type Iiib	Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Amelogenesis Imperfecta, Type Ib	Amelogenesis imperfecta	OMIM:104500
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Amelogenesis Imperfecta, Type Ij	Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:617297
Dentin Dysplasia, Type Ii	Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp	OMIM:125420
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Carabelli Anomaly Of Maxillary Molar Teeth	Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition	OMIM:114700
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
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
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Amelogenesis Imperfecta, Hypomaturation Type, Iia4	Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Anonychia-Microcephaly Syndrome	Carious teeth, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnorm...	ORPHA:1094
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Brachydactyly, Type A2, With Microcephaly	Diabetes mellitus, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypop...	OMIM:211369
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Amelogenesis Imperfecta, Type Ik	Enamel hypoplasia, Amelogenesis imperfecta	OMIM:620104
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Dental maloccl...	ORPHA:1858
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly	DECIPHER:8
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Dental Ankylosis	Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology	ORPHA:1077
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Filippi Syndrome	Single transverse palmar crease, Postnatal growth retardation, 2-4 toe syndactyly, Cutaneous synd...	OMIM:272440
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Tapered finger, Long fingers, Dental malocclusion, High palate, Mild short...	OMIM:618292
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Amelogenesis Imperfecta, Type If	Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:616270
Rubinstein-Taybi Syndrome 2	Syndactyly, Short stature, Broad hallux, Micrognathia, Carious teeth, Talon cusp, Dental malocclu...	OMIM:613684
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Amelogenesis Imperfecta, Hypomaturation Type, Iia5	Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:615887
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Winchester Syndrome	Osteolysis involving tarsal bones, Corneal opacity, Broad metacarpals, Carpal osteolysis	OMIM:277950
Taurodontism	Taurodontia	OMIM:272700
Tetrasomy X	Epicanthus, Upslanted palpebral fissure, Radioulnar synostosis, Hip dysplasia, Clinodactyly of th...	ORPHA:9
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse...	OMIM:601957
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Synophrys, Abnormality of the palpebral fissures, Brachydactyly	OMIM:612001
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Small for gestational age, Cleft palate, Upper limb phocomelia, Stillbirth, Polydacty...	ORPHA:294975
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Dentinogenesis Imperfecta 1	Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth	OMIM:125490
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Gombo Syndrome	Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Craniosynostosis 3	Hallux valgus, Dental malocclusion, Single transverse palmar crease, Brachydactyly	OMIM:615314
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Dental malocclusion, Sho...	ORPHA:2471
Maxillonasal Dysplasia, Binder Type	Dental malocclusion, Short distal phalanx of finger	OMIM:155050
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Postnatal growth retardation, Metaphyseal widening, Dental malocclu...	OMIM:608940
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D...	OMIM:605282
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Bardet-Biedl Syndrome 18	Cataract, Brachydactyly	OMIM:615995
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morph...	ORPHA:2370
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Dental malocclusion, Brachydactyly	OMIM:619692
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Acrootoocular Syndrome	Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Fraxe Intellectual Disability	Epicanthus, Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio...	ORPHA:100973
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Short stature, Single transverse palmar crease, Adducted thumb, Notched primary central incisor, ...	OMIM:620062
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Dental malocclusion	OMIM:615541
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Short stature, Widely spaced teeth, Dental malocclusion	OMIM:616108
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ...	ORPHA:2741
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Atkin-Flaitz Syndrome	Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v...	ORPHA:1193
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Short metacarpal, Short stature, Camptodactyly of finger, Tapered fing...	OMIM:612350
Terminal Osseous Dysplasia	Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica...	OMIM:300244
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges...	OMIM:602849
Bardet-Biedl Syndrome 7	Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Malar flattening, ...	OMIM:615984
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Epicanthus, Cataract, Congenital bilateral hip dislocation, Talipes equinovarus	ORPHA:85288
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Telecanthus	OMIM:300484
Oculomaxillofacial Dysostosis	Brachydactyly, Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormality ...	ORPHA:1794
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Telecanthus, Duplication of thumb phalanx, Tarsal synostosis, Micro...	ORPHA:2756
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Tapered finger, Thick lower lip vermilion, Obesity, Broad palm,...	OMIM:300602
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Broad long bones, Short stature, Dental crowding, Fifth finger distal ...	OMIM:257850
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Short stature, Brachydact...	ORPHA:1327
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met...	ORPHA:1278
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, Selective tooth agenesis, 1-4 finger syndactyly, Split hand, 2-3 finger sy...	OMIM:225280
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Epicanthus, Micromelia...	ORPHA:1240
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Peters anomaly, Ocular anterior segment dysgenesis, Clinodactyly, Iris coloboma, Brac...	OMIM:610023
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Severe short stature, Short stature, Small for gesta...	OMIM:612921
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Elbow dislo...	ORPHA:2557
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Small hand, Antecubital pterygium...	OMIM:619339
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi...	OMIM:164900
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Split-Foot Deformity With Mandibulofacial Dysostosis	Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot, Malar flattening	OMIM:183700
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin...	ORPHA:3352
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Orofaciodigital Syndrome Iv	Epicanthus, Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydacty...	OMIM:258860
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Dental mal...	ORPHA:2920
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ...	ORPHA:2919
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hallux valgus, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hyperactivity, Hyperopic astigm...	ORPHA:397973
Feingold Syndrome Type 2	Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Dental malocclusion, Malar flattening, Brachydactyly	ORPHA:436245
Bardet-Biedl Syndrome 9	Syndactyly, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydacty...	OMIM:615986
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Short thumb, Short middle phalanx of the 2nd finger,...	OMIM:614326
11Q22.2Q22.3 Microdeletion Syndrome	Ptosis, Epicanthus, Bilateral single transverse palmar creases, Micrognathia, Small hand, Short f...	ORPHA:444002
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Single transverse palmar crease, Micrognathia, Abnorma...	OMIM:210600
Potocki-Lupski Syndrome	Mandibular prognathia, Short stature, Dental crowding, Small for gestational age, Micrognathia, D...	OMIM:610883
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor...	ORPHA:750
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ...	OMIM:602483
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly	OMIM:618392
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism	OMIM:300434
Mulibrey Nanism	Short stature, Dental crowding, Single transverse palmar crease, Absent frontal sinuses, Thickene...	OMIM:253250
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Orofaciodigital Syndrome Xviii	Brachydactyly, Short stature, Single transverse palmar crease, Accessory oral frenulum, Sandal ga...	OMIM:617927
Dentin Dysplasia	Abnormal dental morphology, Abnormal dental enamel morphology	ORPHA:1653
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Dental malocclusion, Widely-spaced maxillar...	OMIM:619719
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Trichorhinophalangeal Syndrome, Type I	Micrognathia, Deep philtrum, Short metatarsal, Cone-shaped epiphyses of the proximal phalanges of...	OMIM:190350
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Short stature, Br...	ORPHA:2751
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition	OMIM:125440
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Fanconi Anemia, Complementation Group S	Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion, Narrow palate, Clin...	OMIM:617883
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Open bite, Dental mal...	ORPHA:61
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Limited elbow extension, Short metatarsa...	ORPHA:1856
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul...	ORPHA:166011
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p...	OMIM:616331
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Intellectual Developmental Disorder, X-Linked 101	Unilateral ptosis, Clinodactyly, Hyperactivity	OMIM:300928
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Clinodactyly, Dental maloc...	OMIM:618727
Galactosialidosis	Corneal opacity	ORPHA:351
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact...	OMIM:183600
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Short Stature, Dauber-Argente Type	Long toe, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular diameter, P...	OMIM:619489
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Laurence-Moon Syndrome	Finger syndactyly, Epicanthus, Cataract, Bilateral single transverse palmar creases, Hand polydac...	ORPHA:2377
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Short stature, Dental crowding, Small for gestational age, Postnatal growth retardation, Upper li...	ORPHA:231140
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Multicentric Carpotarsal Osteolysis Syndrome	Ulnar deviation of the hand, Corneal opacity, Ankle swelling, Micrognathia, Wrist swelling, Osteo...	OMIM:166300
Bardet-Biedl Syndrome 11	Polydactyly, Obesity	OMIM:615988
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Intellectual Disability, Birk-Barel Type	Tented upper lip vermilion, Micrognathia, High, narrow palate, Incisor macrodontia, Limited elbow...	ORPHA:166108
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Upslante...	ORPHA:2900
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy...	OMIM:613382
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Small hand, Abnormal femur morphology, Long eyelas...	ORPHA:969
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Obesity, Downturned corners o...	ORPHA:254525
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Talipes, Aplasia/Hypoplasia of the distal pha...	ORPHA:1234
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia	OMIM:183300
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia	ORPHA:1277
Larsen-Like Syndrome	Short stature, Dental malocclusion, Cleft palate, Radial deviation of the 4th finger, Talipes equ...	OMIM:608545
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Cohen Syndrome	Short metacarpal, Short stature, Small for gestational age, Single transverse palmar crease, Micr...	OMIM:216550
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis	ORPHA:1067
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Epicanthus, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitatio...	OMIM:309548
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Intellectual Developmental Disorder, Autosomal Dominant 21	Short stature, Single transverse palmar crease, Cleft palate, Thin vermilion border, Narrow mouth...	OMIM:615502
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Diabetes mellitus, Tapered finger, Patchy palmoplantar hyperkeratosis,...	ORPHA:317
Charlie M Syndrome	Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Tooth agenesis, Thin vermilio...	ORPHA:1406
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, High palate, Dental malocclusion	OMIM:608931
Bardet-Biedl Syndrome 14	Polydactyly, Obesity	OMIM:615991
Orofaciodigital Syndrome Xvii	Median cleft lip, Short stature, Short middle phalanx of the 2nd finger, High, narrow palate, Cen...	OMIM:617926
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Ptosis, Epicanthus, Down-sloping shoulders, Synophrys, Downslanted palpebral fissures, Clinodacty...	ORPHA:1390
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Wide mouth, Thick...	OMIM:309545
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
Abruzzo-Erickson Syndrome	Epicanthus, Toe syndactyly, Short toe, Ulnar deviation of finger, Microcornea, Radioulnar synosto...	ORPHA:921
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Abnormal ...	ORPHA:65759
Nance-Horan Syndrome	Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis...	OMIM:302350
Cornelia De Lange Syndrome 2	Ptosis, Proximal placement of thumb, Limited elbow movement, Highly arched eyebrow, Micrognathia,...	OMIM:300590
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Corneal opacity, Metaphyseal widening, Squared iliac bones,...	OMIM:618961
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
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Severe short stature, Carious teeth, Hip dislocation, Se...	OMIM:203550
2q37 monosomy	Brachydactyly	DECIPHER:44
Eem Syndrome	Finger syndactyly, Abnormal dental morphology, Selective tooth agenesis, Carious teeth, Widely sp...	ORPHA:1897
Temtamy Syndrome	Pes planus, Telecanthus, Micrognathia, Short toe, Genu varum, Clinodactyly of the 5th finger, Iri...	ORPHA:1777
Pycnodysostosis	Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, High palate, Hypoplastic iliac...	ORPHA:763
Bardet-Biedl Syndrome 13	Polydactyly, Obesity	OMIM:615990
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Intellectual Developmental Disorder, Autosomal Dominant 67	Hyperactivity, Telecanthus, Astigmatism, Compulsive behaviors, Attention deficit hyperactivity di...	OMIM:619927
20Q11.2 Microdeletion Syndrome	Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	ORPHA:444051
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Summitt Syndrome	Finger syndactyly, Epicanthus, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of ...	ORPHA:3210
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi...	OMIM:618729
Harrod Syndrome	Arachnodactyly, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic girdle bone mo...	ORPHA:2115
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi...	OMIM:101800
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Gand Syndrome	Long toe, Hyperactivity, Long fingers, Narrow palpebral fissure, Tics, Inappropriate laughter, Bl...	OMIM:615074
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Intellectual Developmental Disorder, Autosomal Dominant 59	Highly arched eyebrow, Short foot, Short palm, Long palpebral fissure, Self-mutilation, Brachydac...	OMIM:618522
Zimmermann-Laband Syndrome	Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc...	ORPHA:3473
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Clinodactyly of the 5th finger, Central post...	OMIM:244600
Potocki-Shaffer Syndrome	Epicanthus, 2-5 finger cutaneous syndactyly, Brachydactyly, Single transverse palmar crease, Tele...	OMIM:601224
Keipert Syndrome	Unilateral ptosis, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Bro...	OMIM:301026
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the dentition, Obesity, Polydactyly, Brachydactyly	OMIM:615982
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Morquio Syndrome C	Corneal opacity	OMIM:252300
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Knee flexion contra...	OMIM:601559
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Short stature, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous ...	OMIM:600384
Epidermolysis Bullosa, Junctional 1B, Severe	Carious teeth, Syndactyly, Enamel hypoplasia, Failure to thrive	OMIM:226700
Waardenburg Syndrome, Type 3	Scapular winging, Telecanthus, Camptodactyly of finger, Blepharophimosis, Synophrys, Blue irides,...	OMIM:148820
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Epicanthus, Rhizomelia, Coxa vara, Genu valgum, Deviation of fin...	ORPHA:2831
Polydactyly, Postaxial, Type A8	Short stature, Postaxial polydactyly, Genu valgum	OMIM:618123
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
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma...	ORPHA:429
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum	OMIM:190351
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Incr...	OMIM:305620
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Hyperactivity, Highly arched eyebrow, Aggressive behav...	OMIM:600430
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Hypochondroplasia	Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f...	OMIM:146000
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Momo Syndrome	Delayed eruption of teeth, Short stature, Large for gestational age, Thick lower lip vermilion, D...	ORPHA:2563
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly	ORPHA:1937
Phenobarbital Embryopathy	Epicanthus, Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Ptosis, Epicanthus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Shor...	OMIM:618659
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hyperactivity, Diabetes mellitus, Blue irides, Short metatarsal, Advanced ossif...	OMIM:614613
Sillence Syndrome	Epicanthus, Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus...	ORPHA:3168
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
Acrocephalopolydactyly	Epicanthus, Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Epicanthus, Osteolysis involving bones of the upper limbs, Osteolysis involving bones...	ORPHA:88630
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Open bite, Dental malocclusion,...	ORPHA:3079
20P13 Microdeletion Syndrome	Finger syndactyly, Telecanthus, Highly arched eyebrow, Synophrys, Microcornea, Narrow palpebral f...	ORPHA:313781
Mucolipidosis Type Iii	Large iliac wing, Corneal opacity, Abnormal hip bone morphology, Hypoplastic inferior ilia	ORPHA:577
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Non-Distal Deletion 10Q	Ptosis, Epicanthus, Brachydactyly, Synophrys, Upslanted palpebral fissure, Clinodactyly of the 5t...	ORPHA:1581
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Short stature, Arachnodactyly, Micrognath...	OMIM:600325
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Clinodactyly of the 5th finger, Small proximal tibial epiph...	OMIM:154780
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas...	ORPHA:502
Kabuki Syndrome 2	Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip pit, Dental mal...	OMIM:300867
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Obesity, Large hands, ...	OMIM:157980
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Clinodactyly of the 5t...	ORPHA:251028
Intellectual Developmental Disorder, Autosomal Recessive 74	Hyperactivity, Brachydactyly	OMIM:617169
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ...	OMIM:609616
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Aggressive behavior, Myopic astigmatism, Microcornea, Upsl...	OMIM:152950
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Ptosis, Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Astigmatism, Palmoplantar keratoderm...	ORPHA:2824
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Usmani-Riazuddin Syndrome, Autosomal Dominant	Pes planus, Hyperactivity, Hooded eyelid, Aggressive behavior, 2-3 toe syndactyly, Self-injurious...	OMIM:619467
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity	ORPHA:1532
Intermediate Osteopetrosis	Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Osteosclerosis of ...	ORPHA:210110
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Alazami-Yuan Syndrome	Hyperactivity, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Synophrys, L...	OMIM:617126
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Telecanthus, Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Sparse lateral eyebrow, Brachydactyly	OMIM:618879
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Thin upper lip vermilion, Short stature, Dental crowding, Sandal gap, Short toe, Pierre-Robin seq...	OMIM:617877
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Diabetes mellitus, Abnormal pupil morphology...	ORPHA:3163
Nicolaides-Baraitser Syndrome	Short palm, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal finger morphology, Clubb...	ORPHA:3051
Weill-Marchesani Syndrome 3	Shallow anterior chamber, Microspherophakia, Brachydactyly, Ectopia lentis	OMIM:614819
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Downslanted palpebral fissures, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Orofaciodigital Syndrome Ix	Telecanthus, Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Long coccyx, Narrow greater sciatic notch, Halberd-shaped...	OMIM:156530
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta...	OMIM:615560
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Temtamy Syndrome	Pes planus, Highly arched eyebrow, Ectopia lentis, Lens luxation, Micrognathia, Self-mutilation, ...	OMIM:218340
Cerebellofaciodental Syndrome	Short stature, Single transverse palmar crease, Tapered finger, Dental malocclusion, Shortening o...	OMIM:616202
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Blepharophimosis-Impaired Intellectual Development Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Tapered finger, Dental malocclusion, Wide mout...	OMIM:619293
Shaheen Syndrome	Carious teeth, Enamel hypoplasia	OMIM:615328
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Telecanthus, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathi...	OMIM:620073
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
Frontonasal Dysplasia 1	Ptosis, Epicanthus, Cataract, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral m...	OMIM:136760
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Pes planus, Epicanthus, Hyperactivity, Highly arched eyebrow, Aggr...	OMIM:301069
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Corneal opacity, Rhizomelia, Metaphy...	ORPHA:85167
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Micrognathia, Supernumerary tooth, High palate, Long philtrum, Long...	ORPHA:77258
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Sho...	ORPHA:2251
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,...	OMIM:618975
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Short Syndrome	Delayed eruption of teeth, Enlarged epiphyses, Small for gestational age, Micrognathia, Dental ma...	OMIM:269880
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Small for gestational age, Single transverse pal...	OMIM:123450
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Unilateral ptosis, Epicanthus, Thick eyebrow, Hyperactivity, Nail-biting, Tapered ...	ORPHA:485405
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Short stature, Sandal gap, Postaxial polydactyly, Carious teeth,...	OMIM:617102
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High palate, Short p...	ORPHA:254531
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Micrognathia, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Down...	OMIM:602562
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Broad phalanx, Metaphyseal widening,...	OMIM:250420
Omodysplasia 1	Short humerus, Epicanthus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee fle...	OMIM:258315
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormality of t...	ORPHA:1515
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Supernumerary tooth, High palate, Persistence of primary teeth	OMIM:619752
Cog7-Cdg	Small for gestational age, Micrognathia, Postnatal growth retardation, Long fingers, Abnormal fin...	ORPHA:79333
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia...	ORPHA:239
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Micrognathia, Hypoplasia of the iris, Anterio...	ORPHA:96125
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors	OMIM:610706
Bardet-Biedl Syndrome 10	Polydactyly, Obesity	OMIM:615987
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Moebius Syndrome	Syndactyly, Brachydactyly, Epicanthus, Pes planus, Micrognathia, Split hand, Dysphagia, Congenita...	OMIM:157900
Inverted Duplicated Chromosome 15 Syndrome	Epicanthus, Hyperactivity, Aggressive behavior, Abnormal repetitive mannerisms, Synophrys, 2-3 to...	ORPHA:3306
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Epicanthus, Short femur, Rhizomelia, Sandal gap, Hypoglycemia, Hypoplasia of the r...	OMIM:607143
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Small hand, Upslanted palpebral fissure, Broad finger, Clinodactyly, Short phalanx of finger, Thi...	OMIM:614684
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi...	OMIM:177170
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Failure to thrive, Abnormal oral mucosa morphology, Micromelia, Abnorm...	ORPHA:289
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W...	OMIM:618067
Chromosome 15Q26-Qter Deletion Syndrome	Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Blepharophimosis, Brachydactyly	OMIM:612626
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Thin upper lip vermilion, Open mouth, Dental malocclusion	OMIM:619149
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Abnormalit...	ORPHA:2619
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Tapered finger, Aggressive behavior, Long fingers, Clinodactyly of the 5th finger,...	OMIM:609425
Weill-Marchesani Syndrome	Short thumb, Brachydactyly, Cataract, Ectopia lentis	ORPHA:3449
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Brachyolmia Type 1, Toledo Type	Broad tibial metaphyses, Short femoral neck, Opacification of the corneal stroma	OMIM:271630
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp...	ORPHA:570
Hamamy Syndrome	Long toe, Thin upper lip vermilion, Syndactyly, Down-sloping shoulders, Micrognathia, Tapered fin...	OMIM:611174
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Ptosis, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger...	ORPHA:2511
Hyperlysinemia, Type I	Hyperactivity, Ectopia lentis	OMIM:238700
Kury-Isidor Syndrome	Finger syndactyly, Ptosis, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Astigm...	OMIM:619762
Schaaf-Yang Syndrome	Thick eyebrow, Rocker bottom foot, Impulsivity, Tapered finger, Small hand, Narrow palm, Short fo...	OMIM:615547
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Acrofrontofacionasal Dysostosis	Ptosis, Camptodactyly of finger, Micromelia, Brushfield spots, Eyelid coloboma, Abnormal epiphysi...	ORPHA:1784
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Van Maldergem Syndrome 1	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathia, Hypoplasi...	OMIM:601390
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Short stature, Micrognathia, Abnormality of the dentition, Thick lower lip vermilion, Dental malo...	ORPHA:85321
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Syndactyly, Sandal gap, Widely spaced toes, Clinodactyly of the 5th finger, Mitten d...	OMIM:609638
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Dental malocclusion, 2-3 finger syndactyly, Facial palsy secon...	OMIM:269500
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Microdontia, Agenesis of molar, Supernumerary tooth, Diastema	OMIM:619718
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Urban-Rogers-Meyer Syndrome	Epicanthus, Toe syndactyly, Camptodactyly of finger, Micrognathia, Short foot, Upslanted palpebra...	ORPHA:3409
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia...	OMIM:113000
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt...	ORPHA:231144
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Short phalanx of finger, Broad metacarpals, Hypoplastic cervical verteb...	ORPHA:56304
Harel-Yoon Syndrome	Corneal opacity, Micrognathia, Talipes equinovalgus, Developmental cataract, Upslanted palpebral ...	OMIM:617183
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Micrognathia, Metaphyseal widening, Metatarsal osteolysis...	OMIM:259600
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Sandal gap, Aggressive behavior, Blue irides, Recurrent hand flapping, Self-mutila...	OMIM:615516
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova...	OMIM:601356
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Highly arched eyebrow, Genu varum, Hip dislocation, Deep palmar crease, Long eyelashe...	OMIM:619451
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cataract, Short toe, Hyperinsulinemia, Type II diabetes mellitus, Broad foot, Brachydactyly	ORPHA:3085
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velophary...	ORPHA:363444
Myopathy, Myofibrillar, 8	Scapular winging, Micrognathia, Dental malocclusion, High palate, Joint contracture of the 5th fi...	OMIM:617258
Xq25 Microduplication Syndrome	Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Abnormality of the palpebral fi...	ORPHA:521258
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Van Maldergem Syndrome 2	Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Ulnar deviation of the ...	OMIM:615546
Scheie Syndrome	Pes cavus, Corneal opacity, Genu valgum	OMIM:607016
Pseudopseudohypoparathyroidism	Short metacarpal, Cataract, Short metatarsal, Brachydactyly	OMIM:612463
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Ptosis, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Epic...	ORPHA:284160
Coffin-Siris Syndrome 6	Epicanthus, Micrognathia, Abnormal repetitive mannerisms, Narrow palpebral fissure, Tics, Attenti...	OMIM:617808
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Tortuosity of conjunctival vessels, Aggressive behavior	OMIM:248510
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalanges of t...	ORPHA:3152
Ck Syndrome	Long toe, Microretrognathia, Epicanthus, Hyperactivity, Aggressive behavior, Almond-shaped palpeb...	ORPHA:251383
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Marbach-Schaaf Neurodevelopmental Syndrome	Epicanthus, Tapered finger, Aggressive behavior, Upslanted palpebral fissure, Astigmatism, Attent...	OMIM:619680
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Beaulieu-Boycott-Innes Syndrome	Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Micrognathia	OMIM:613680
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology	ORPHA:3353
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Silver-Russell Syndrome 3	Syndactyly, Short stature, Small for gestational age, Postnatal growth retardation, Small hand, D...	OMIM:616489
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Brachydactyly, Acromesomelia	ORPHA:40
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep...	ORPHA:783
Progeria-Short Stature-Pigmented Nevi Syndrome	Brachydactyly, Short stature, Selective tooth agenesis, Small for gestational age, Micrognathia, ...	ORPHA:2959
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Epicanthus, Hyperactivity, Hyperopic astigmatism, Micrognathia, Long fingers, Upslanted...	ORPHA:363686
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Short stature, Slender build, Narrow palate, Short upper lip, Thick vermil...	ORPHA:364028
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Ptosis, Scapular winging, Epicanthus, Sandal gap, Single transverse palmar crease, Tapered finger...	OMIM:617061
Lowry-Wood Syndrome	Epiphyseal dysplasia, Brachydactyly, Elbow dislocation, Coxa vara, Irregular epiphyses, Astigmati...	ORPHA:1824
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ...	OMIM:101200
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Summitt Syndrome	Syndactyly, Obesity	OMIM:272350
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Short palm, Mild postnatal growth retardation, Hypoplastic iliac wing,...	OMIM:235510
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ...	OMIM:616651
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Short stature, Small for gestational age, Micrognathia, Postnatal growth retardation, Small hand,...	ORPHA:96184
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod...	OMIM:184250
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short middle phalanx of finger, Type II diabetes mellitus, Brachydactyly	ORPHA:1436
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Carious teeth, Conical incisor, Enamel hypoplasia	OMIM:614564
Trichothiodystrophy 2, Photosensitive	Short stature, Agenesis of maxillary lateral incisor	OMIM:616390
Faciocardiomelic Syndrome	Micrognathia, Large for gestational age, Dental malocclusion, Wide mouth, Slender long bone, Poly...	OMIM:612731
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ...	ORPHA:1765
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Epicanthus, Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ecto...	OMIM:615877
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Postaxial polydactyl...	OMIM:619142
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Hyperactivity, Decreased palmar creases, Highly arched eyebrow, Micrognathia, Bilater...	ORPHA:352490
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Short stature, Micrognathia, Cleft lip, Clinodactyly, Dental malocclusion, Gingival o...	OMIM:616894
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Impulsivity, Micrognathia, Aggressive behavior, Lens coloboma, 2-3 toe syndactyly, Sm...	OMIM:618914
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre...	ORPHA:3098
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Microcornea, Clinodactyly of the...	OMIM:201000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Thin upper lip vermilion, Enamel hypoplasia, Palmoplantar keratoderma, Syndactyly	OMIM:613576
Lowry-Maclean Syndrome	Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of t...	ORPHA:2409
Oculocerebrocutaneous Syndrome	Finger syndactyly, Ptosis, Congenital hip dislocation, Corneal opacity, Talipes, Aplasia/Hypoplas...	ORPHA:1647
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,...	OMIM:617396
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Proportionate short stature, Metatarsus adductus, Trismus, De...	OMIM:227330
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Micrognathia, Abnormal fibula morphology, Coxa vara, Upslanted pa...	ORPHA:1988
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short stature, Symphalangism affecting t...	ORPHA:710
Myopathy, Centronuclear, X-Linked	Arachnodactyly, High palate, Slender toe, Dental malocclusion	OMIM:310400
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Cataract, Brachydactyly, Increased carrying angle, Ptosis	OMIM:247410
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Blepharophimosis, Hypoplastic ilia...	ORPHA:93333
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Micrognathia, Bila...	OMIM:609465
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, High palate, Failure ...	ORPHA:329178
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Congenital Rubella Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus, Abnormal met...	ORPHA:290
Insulin-Like Growth Factor I Deficiency	Short stature, Micrognathia, Postnatal growth retardation, Decreased body weight, Clinodactyly of...	OMIM:608747
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Myopic astigmatism, Developmental cataract, Freq...	OMIM:620141
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili...	OMIM:611717
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Multiple rows o...	ORPHA:163654
Ck Syndrome	Epicanthus, Hyperactivity, Micrognathia, Almond-shaped palpebral fissure, Aggressive behavior, Up...	OMIM:300831
Slc35A2-Cdg	Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus, Abnormal long ...	ORPHA:356961
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Single transverse palmar crease, M...	ORPHA:444072
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Fatco Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen...	ORPHA:2492
Joubert Syndrome 18	Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft palate, Lobulated tongue, ...	OMIM:614815
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal femoral neck/head morphology...	ORPHA:2788
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con...	OMIM:606895
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Epicanthus, Single transverse palmar crease, Micrognathia, Narrow palpebral fissure, Camptodactyl...	OMIM:613604
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Short finger, Tapered finger	ORPHA:1867
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Conical tooth, 2-3 toe cutaneous syndactyly, 4-5 toe syndactyly, Cutaneous...	OMIM:613573
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia...	OMIM:212780
Congenital Insensitivity To Pain With Severe Intellectual Disability	Rocker bottom foot, Micrognathia, Keratitis, Talipes equinovalgus, Corneal erosion, Tibial bowing...	ORPHA:453510
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion	ORPHA:411777
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Carious teeth, ...	ORPHA:93324
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Odontochondrodysplasia 1	Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Flat acetabul...	OMIM:184260
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Hyperactivity, Decreased palmar creases, Highly arched eyebrow, Microg...	OMIM:615834
Multiple Synostoses Syndrome 2	Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn...	OMIM:610017
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Pes planus, Scapular winging, Single transverse palmar crease, Micromelia, Mon...	OMIM:618870
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Keratitis, Abnormal foot morphology, Abnormal diaphys...	ORPHA:1657
Tonne-Kalscheuer Syndrome	Pes planus, Micrognathia, Aggressive behavior, Blue irides, Self-injurious behavior, Dysphagia, D...	OMIM:300978
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Short stature, Persistence of primary...	ORPHA:97360
2Q23.1 Microdeletion Syndrome	Hyperactivity, Sandal gap, Highly arched eyebrow, Synophrys, Polyphagia, Self-injurious behavior,...	ORPHA:228402
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific...	ORPHA:353298
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Gorlin Syndrome	Epicanthus, Cataract, Arachnodactyly, Telecanthus, Palmar pits, Plantar pits, Iris coloboma, Brac...	ORPHA:377
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De...	OMIM:234100
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Short thumb, Broad hallux, Brachydactyly	OMIM:165800
Wagro Syndrome	Cataract, Corneal opacity, Micrognathia, Aggressive behavior, Polyphagia, Agitation, Compulsive b...	OMIM:612469
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly, Radioulnar syn...	OMIM:248340
Smith-Magenis Syndrome	Pes planus, Hyperactivity, Synophrys, Self hugging, Broad palm, Head-banging, Short palm, Onychot...	OMIM:182290
Marinesco-Sjögren Syndrome	Short palm, Cataract, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal f...	ORPHA:559
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Small for gestational age, Micrognathia, Postnatal growth retardation, Cleft palate, ...	ORPHA:397590
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, High, narrow palate, Cleft palate,...	ORPHA:957
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Ruvalcaba Syndrome	Ptosis, Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of ...	ORPHA:3121
Wiedemann-Steiner Syndrome	Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of finger, Long hallux, Br...	OMIM:605130
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca...	OMIM:221800
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Peters anomaly, Downslanted palpebral fissures, Broad thumb, Brachydactyly	OMIM:614526
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Short stature, Small for gestational age, Single transverse palmar cre...	ORPHA:73272
Woolly Hair Nevus	Brachydactyly, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m...	OMIM:618371
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Downturned corners of mouth, High palate, Camptodactyly of toe, Dislocated radial h...	OMIM:265000
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Orofaciodigital Syndrome I	Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu...	OMIM:311200
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Aplasi...	ORPHA:364577
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Abnormality of the elbow, Ge...	ORPHA:263463
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Compulsive behaviors, Brachydactyly	OMIM:266265
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger	OMIM:618725
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo...	ORPHA:139471
Pde4D Haploinsufficiency Syndrome	Ptosis, Short metacarpal, Pes planus, Broad hallux, Micrognathia, Short toe, Short metatarsal, Up...	ORPHA:439822
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age	OMIM:617119
Radio-Tartaglia Syndrome	Pes planus, Epicanthus, Highly arched eyebrow, Tapered finger, Long eyebrows, Micrognathia, Synop...	OMIM:619312
Codas Syndrome	Ptosis, Short metacarpal, Congenital hip dislocation, Cataract, Epicanthus, Abnormal pelvic girdl...	ORPHA:1458
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
W Syndrome	Hypoplasia of the ulna, Broad uvula, Radial bowing, Elbow dislocation, Metatarsus adductus, Submu...	ORPHA:2804
Clark-Baraitser Syndrome	Epicanthus, Hyperactivity, Sandal gap, Aggressive behavior, Upslanted palpebral fissure, Narrow p...	OMIM:617752
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Overlapping toe, Proximal placement of thumb, Tapered finger, Dental ma...	OMIM:616737
Acromelic Frontonasal Dysostosis	Syndactyly, Telecanthus, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Po...	OMIM:603671
Noonan Syndrome 4	Short stature, Large for gestational age, Dental malocclusion, Wide mouth, Thick vermilion border...	OMIM:610733
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
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint...	OMIM:603543
Morm Syndrome	Hyperactivity, Cataract, Aggressive behavior	ORPHA:75858
Joubert Syndrome 10	Growth delay, Deep philtrum, Thick vermilion border, Postaxial polydactyly	OMIM:300804
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max...	OMIM:211380
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Cleft palate, Everted lower lip ...	OMIM:619736
Oslam Syndrome	Carious teeth, Radioulnar synostosis, Short stature, Clinodactyly of the 5th finger	ORPHA:2760
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Malar flattening, Supernumerary tooth, Thin vermilion border, Thick vermilion border	ORPHA:86818
Bardet-Biedl Syndrome 16	Polydactyly, Short stature, Obesity	OMIM:615993
Chromosome Xq25 Duplication Syndrome	Epicanthus, Hyperactivity, Highly arched eyebrow, Sparse eyebrow, Thick eyebrow	OMIM:300979
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali...	ORPHA:2909
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Talipes ...	OMIM:620076
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Micrognathia, Positional foot deformity, Upslanted palpebral fissure, ...	ORPHA:496790
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Synophrys, Short palm, Clinodactyly of the 5th finger, I...	ORPHA:251014
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Ichthyosis, X-Linked	Palmar hyperlinearity, Palmoplantar keratoderma, Opacification of the corneal stroma	OMIM:308100
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Anauxetic Dysplasia 3	Broad eyebrow, Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgu...	OMIM:618853
Chromosome 3Pter-P25 Deletion Syndrome	Thin upper lip vermilion, Short stature, Small for gestational age, Overlapping toe, Micrognathia...	OMIM:613792
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Squared iliac bones, Preaxi...	OMIM:616300
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, High palate, Wrist flexion contracture, Long philtrum, Purse...	ORPHA:800
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Cataract, Sandal gap, Abnormal pelvis bone morphology, Mi...	ORPHA:1427
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Micrognathia, Long eyelashes, Downslanted palpebral fissures, Brachydactyly	ORPHA:2863
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Cataract, Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Pes ...	OMIM:614376
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Short stature, Dental crowding, Limited elbow movement, Micrognathia, Dental m...	OMIM:614008
Biemond Syndrome Type 2	Preaxial polydactyly, Short stature, Obesity, Delayed puberty	ORPHA:141333
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Diamond-Blackfan Anemia 21	Hallux valgus, Unilateral ptosis, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial ...	OMIM:620072
Intellectual Developmental Disorder, Autosomal Recessive 61	Hyperactivity, Highly arched eyebrow, Tapered finger, Aggressive behavior, Long fingers, Synophry...	OMIM:617773
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Highly arched eyebrow, Sparse...	ORPHA:1001
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Short stature, Micromeli...	OMIM:614091
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Holoprosencephaly-Craniosynostosis Syndrome	Epicanthus, Coxa valga, Upslanted palpebral fissure, Hypoplastic vertebral bodies, Clinodactyly o...	ORPHA:2163
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Epicanthus, Abnormal...	ORPHA:950
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Abnormal eyelid morphology, Abnormal foot morphology, Upper eyelid coloboma, Astigm...	ORPHA:2095
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Dental crowding, Sandal gap, Postaxial polydactyly, Micrognathia, Downt...	OMIM:615761
Phenylketonuria	Hyperactivity, Cataract, Aggressive behavior, Blue irides, Compulsive behaviors, Attention defici...	OMIM:261600
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Telecanthus, Brachydactyly, Synophrys, Genu valgum, Abnormal metacarpal morphology, Short distal ...	ORPHA:1295
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Open bite, Abnormality of the ...	ORPHA:1507
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Retrognathia	ORPHA:314621
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Ptosis, Pes planus, Single transverse palmar...	OMIM:305400
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxia...	OMIM:610829
Frank-Ter Haar Syndrome	Thin upper lip vermilion, Bowing of the long bones, Micrognathia, Metatarsus adductus, Dental mal...	OMIM:249420
Coffin-Siris Syndrome 2	Brachydactyly, Hyperactivity, Sandal gap, Long eyelashes, Short distal phalanx of finger, Thick e...	OMIM:614607
Mucolipidosis Iv	Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Hypomelanosis Of Ito	Syndactyly, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radial deviati...	OMIM:300337
Hajdu-Cheney Syndrome	Short stature, Micrognathia, Absent frontal sinuses, Dental malocclusion, Foot acroosteolysis, Os...	OMIM:102500
Three M Syndrome 1	Mandibular prognathia, Scapular winging, Short stature, Small for gestational age, Postnatal grow...	OMIM:273750
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Dysphagia, Short foot, Ankle clonus, Hammertoe, Camptodactyly, Clino...	OMIM:275900
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Alopecia-Intellectual Disability Syndrome	Split hand, Aplasia/Hypoplasia of the eyebrow, Brachydactyly	ORPHA:2850
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Hypoplasia o...	OMIM:268400
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border	OMIM:620114
Intellectual Developmental Disorder, Autosomal Recessive 13	Hyperactivity, Synophrys, Bruxism, Recurrent hand flapping, Slender finger	OMIM:613192
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Cataract, Telecanthus, Short distal phalanx of finger	ORPHA:1563
Satoyoshi Syndrome	Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ...	OMIM:600705
Rubinstein-Taybi Syndrome 1	Dental crowding, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, ...	OMIM:180849
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Corneal dystrophy, Upslanted palpebral fissure, Broad distal phalanx of finger, Broad thumb, Shor...	OMIM:617763
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Epicanthus, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Mi...	OMIM:617866
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Short stature, Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu...	OMIM:619721
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, ...	OMIM:600920
Laron Syndrome	Hypoglycemia, Micrognathia, Short toe, Abnormality of the elbow, Brachydactyly	ORPHA:633
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping fingers, Overlapping toe, Postaxial polydactyly, Micrognathia, Preaxial polydactyly, ...	OMIM:618142
Blepharo-Cheilo-Odontic Syndrome	Carious teeth, Finger syndactyly, Bilateral cleft lip and palate, Conical tooth	ORPHA:1997
Au-Kline Syndrome	Failure to thrive, Overlapping toe, Postaxial polydactyly, Coxa valga, Dental malocclusion, Bifid...	OMIM:616580
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Short phalanx of finger, ...	OMIM:615777
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Coffin-Siris Syndrome 7	Epicanthus, Hyperactivity, Severe temper tantrums, Abnormal repetitive mannerisms, Compulsive beh...	OMIM:618027
Suleiman-El-Hattab Syndrome	Microretrognathia, Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Synophrys,...	OMIM:618950
Acrofacial Dysostosis, Catania Type	Microretrognathia, Smooth philtrum, Finger syndactyly, Brachydactyly, Short stature, Abnormality ...	ORPHA:1786
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract	OMIM:618815
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
Jansen-De Vries Syndrome	Small hand, Short foot, Attention deficit hyperactivity disorder, Compulsive behaviors, Brachydac...	OMIM:617450
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Micrognathia, Synophrys, Hip dysplasia, Long eyelashes, Horizontal eyebrow, Clinodactyly of the 5...	OMIM:618381
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Short stature, Abnormality of the dentition, Open bite, ...	OMIM:115150
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Short thumb, Synophrys, Downslanted palpebral fissures, D...	ORPHA:401935
Insensitivity To Pain, Congenital, With Anhidrosis	Autoamputation of digits, Hyperactivity, Keratitis, Corneal scarring, Recurrent corneal erosions,...	OMIM:256800
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Pes planus, Hyperactivity, Sandal gap, Aggressive behavior, Small hand, Short foot, Pes cavus, Br...	OMIM:300354
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Telecanthus, Preaxial hand polydactyly, Hand oligodactyly, Fibular a...	OMIM:165590
Pycnodysostosis	Short stature, Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal si...	OMIM:265800
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Hypoplasia of the odontoid process, Metaphyseal widening, Broad palm, Coxa vara, Flattened epiphy...	OMIM:300232
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Ptosis, Thick eyebrow, Congenital hip dislocation, Cataract, Pes planus, Hypoglycemia, Tapered fi...	OMIM:616007
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ...	ORPHA:1855
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Impaired glucose tolerance, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of...	OMIM:615630
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Osteopetrosis, Autosomal Recessive 3	Short stature, Diaphyseal sclerosis, Dental malocclusion	OMIM:259730
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Pelger-Huet Anomaly	Abnormality of the dentition, Gingival overgrowth, Upper limb undergrowth, Polydactyly, Short 3rd...	OMIM:169400
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bone...	OMIM:253010
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Telecanthus, Corneal opacity, Micrognathia, Developmental glaucoma, Aniridia	ORPHA:1064
Phelan-Mcdermid Syndrome	Micrognathia, Dental malocclusion, 2-3 toe syndactyly, Large hands, High palate, Widely spaced te...	OMIM:606232
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Epicanthus, Hyperactivity, Overfriendliness, Restlessness, Abnormality of the hand, A...	ORPHA:369891
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Hyperactivity, Sandal gap, Tapered finger, Small hand, Short foot, Long eyelashes, Cl...	OMIM:618089
Laurence-Moon Syndrome	Polydactyly, Short stature, Obesity, Abnormality of the hand	OMIM:245800
Gm1-Gangliosidosis, Type Iii	Hypoplastic acetabulae, Flared iliac wing, Pes cavus, Opacification of the corneal stroma	OMIM:230650
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Cataract, Short distal phalanx of finger	ORPHA:1914
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Accessory oral frenulu...	OMIM:277170
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Supernume...	ORPHA:2136
Hall-Riggs Syndrome	Metaphyseal dysplasia, Epicanthus, Brachydactyly	OMIM:234250
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin...	ORPHA:3107
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Rocker bottom foot, Coxa valga, Talipes equinovalgus, Postaxial han...	OMIM:301056
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Cl...	ORPHA:96148
Mucolipidosis Iii Gamma	Abnormality of the hand, Flat capital femoral epiphysis, Genu valgum, Flared iliac wing, Opacific...	OMIM:252605
Shprintzen-Goldberg Craniosynostosis Syndrome	Arachnodactyly, Micrognathia, Hypoplasia of the maxilla, Metatarsus adductus, Metaphyseal widenin...	OMIM:182212
Norrie Disease	Cataract, Corneal opacity, Aggressive behavior, Leukocoria, Hypoplasia of the iris, Buphthalmos, ...	OMIM:310600
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Irregular carpal bones, Sp...	OMIM:252600
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ...	OMIM:303600
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Micromelia, Hypoplasia of the iris, Upslanted palpebral fissure, Short phalanx ...	OMIM:600092
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange...	OMIM:300166
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Cleft palate	OMIM:612913
Greenberg Dysplasia	Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossification, Brachydactyly	ORPHA:1426
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Clinodactyly, Flattened epiphysis, Genu valgum, Polydactyly...	OMIM:607131
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Cataract, Genu recurvatum, Talipes, Abnormal cornea morphology,...	ORPHA:2611
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Overlapping toe, Proximal placement of thum...	ORPHA:487796
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Postaxial polydactyly, Brachydactyly	OMIM:615633
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Epicanthus, Sclerocornea, Micrognathia, Downslanted palpe...	OMIM:614230
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ...	OMIM:173800
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm...	ORPHA:15
Silver-Russell Syndrome 1	Syndactyly, Small for gestational age, Micrognathia, Short distal phalanx of the 5th finger, Down...	OMIM:180860
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Brachydactyly, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Ptosis	OMIM:608624
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Epicanthus, Telecanthus, Hyperactivity, Aggressive behavior, Almond-shaped palpebral fissure, Dow...	OMIM:620292
Microphthalmia, Isolated, With Coloboma 9	Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col...	OMIM:615145
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Attention deficit hyperactivity disorder	ORPHA:281090
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
3Q29 Microduplication Syndrome	Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Aniridia, Iris coloboma, Downslanted palpebra...	ORPHA:251038
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Chromosome 19Q13.11 Deletion Syndrome, Distal	Failure to thrive, Short stature, Overlapping toe, Micrognathia, Postnatal growth retardation, Ca...	OMIM:613026
Multiple Sulfatase Deficiency	Broad hallux phalanx, Cataract, Corneal opacity, Broad thumb, Thick eyebrow	ORPHA:585
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Shor...	ORPHA:3474
Intellectual Developmental Disorder, X-Linked 30	Restlessness, Hyperactivity, Aggressive behavior, Upslanted palpebral fissure, Agitation, Promine...	OMIM:300558
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Epicanthus, Telecanthus, Rocker bottom foot, Short 2nd toe, Hip dysplasia, Axenfeld an...	OMIM:612582
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clinodactyly of t...	OMIM:260660
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Attention deficit hyperactivity disorder, ...	ORPHA:776
Corneodermatoosseous Syndrome	Corneal dystrophy, Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma,...	ORPHA:3194
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Ptosis, Epicanthus, Abnormal foot mo...	ORPHA:3219
Intellectual Developmental Disorder, Autosomal Dominant 45	Pes planus, Hyperactivity, Arachnodactyly, Attention deficit hyperactivity disorder, Recurrent ha...	OMIM:617600
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Nar...	OMIM:236500
Carpenter Syndrome 2	Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ...	OMIM:614976
Nephronophthisis 15	Polydactyly, Obesity	OMIM:614845
Martin-Probst Syndrome	Short stature, Micrognathia, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Malar fl...	OMIM:300519
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Hyperactivity, Almond-shaped palpebral fissure, Short p...	ORPHA:261323
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Familial Adenomatous Polyposis 1	Eruption failure, Supernumerary tooth, Carious teeth, Odontoma	OMIM:175100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Spinocerebellar Ataxia, Autosomal Recessive 20	Epicanthus, Talipes equinovarus, Camptodactyly, Clinodactyly, Short palpebral fissure, Brachydactyly	OMIM:616354
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea morphology, De...	OMIM:229200
Aredyld Syndrome	Upslanted palpebral fissure, Abnormal pelvic girdle bone morphology, Type II diabetes mellitus, T...	ORPHA:1133
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Smith-Magenis Syndrome	Pes planus, Toe syndactyly, Micrognathia, Synophrys, Microcornea, Upslanted palpebral fissure, Se...	ORPHA:819
Cockayne Syndrome B	Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima...	OMIM:133540
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Failure to thrive, Congenital hip dislocation, Toe syndactyly, Cachexia, Growt...	ORPHA:217346
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th...	ORPHA:137834
15Q24 Microdeletion Syndrome	Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Smal...	ORPHA:94065
Anauxetic Dysplasia 1	Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra...	OMIM:607095
Localized Scleroderma	Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Upper lim...	ORPHA:90289
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Hallux valgus, Short stature, Dental crowding, ...	OMIM:614188
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia...	ORPHA:96334
Trisomy 9P	Bilateral single transverse palmar creases, Abnormal pupil morphology, Clinodactyly of the 5th fi...	ORPHA:236
Sialidosis Type 2	Corneal opacity, Pedal edema	ORPHA:87876
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Arachnodactyly, Broad hallux, Cubitus valgus, Dental malocclusion, High palate, Short finger, Mal...	OMIM:601552
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Carious...	OMIM:216400
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Corneal opacity, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperk...	OMIM:601812
Mosaic Trisomy 1	Long toe, Broad toe, Microretrognathia, Toe syndactyly, Arachnodactyly, Single transverse palmar ...	ORPHA:1692
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short toe, Short metatarsal, Short finger, Brachydactyly	OMIM:103580
Olmsted Syndrome 1	Autoamputation of digits, Palmoplantar keratoderma, Corneal opacity, Opacification of the corneal...	OMIM:614594
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Restlessness, Hyperactivity, Micrognathia, Aggressive behavior, Short foot, Upslanted palpebral f...	OMIM:300534
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f...	ORPHA:488642
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Short stature, Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal ...	ORPHA:1323
Oculodentodigital Dysplasia	Micrognathia, Microcornea, Clinodactyly of the 5th finger, Finger syndactyly, Short hallux, Aplas...	ORPHA:2710
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Epicanthus, Abnormality of the elbow, Aplasia/Hypoplasia of the eyebrow, Brachydactyly	ORPHA:2701
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Brachydactyly	ORPHA:2145
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Bilateral ptosis, Synophrys, ...	OMIM:614701
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Short lingual frenulum, Short stature, Single transverse palmar crease,...	ORPHA:96121
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Ptosis, Blepharophimosis, Absent radius, ...	ORPHA:233
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ...	ORPHA:438216
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Incre...	OMIM:106210
Adnp Syndrome	Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger morphology, Compulsiv...	ORPHA:404448
White-Sutton Syndrome	Overfriendliness, Hyperactivity, Micrognathia, Aggressive behavior, Abnormal repetitive mannerism...	OMIM:616364
Tarp Syndrome	Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial p...	OMIM:311900
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal...	OMIM:108721
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor...	ORPHA:2655
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplasia of dental enamel, Clino...	ORPHA:73223
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,...	ORPHA:818
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Micrognathia, Brushfield ...	OMIM:214110
Orofaciodigital Syndrome Type 6	Syndactyly, Failure to thrive, Mesoaxial polydactyly, Short stature, Hamartoma of tongue, Microgn...	ORPHA:2754
Frontorhiny	Ptosis, Epicanthus, Cataract, Camptodactyly of finger, Hypoplastic frontal sinuses, Finger clinod...	ORPHA:391474
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Conical incisor, Radial deviation of the 3rd finge...	OMIM:149730
Spondylodysplastic Ehlers-Danlos Syndrome	Single transverse palmar crease, Micrognathia, Metaphyseal widening, Abnormal finger morphology, ...	ORPHA:536471
Cutis Laxa, Autosomal Dominant 3	Corneal opacity, Hip dislocation, Developmental cataract, Talipes equinovarus, Adducted thumb	OMIM:616603
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia	ORPHA:466722
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Blepharo...	ORPHA:85293
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th...	ORPHA:1305
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Short...	OMIM:608328
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placemen...	ORPHA:435638
19P13.3 Microduplication Syndrome	Pes cavus, Epicanthus, Telecanthus, Hyperactivity, Micrognathia, Long fingers, Hip dislocation, U...	ORPHA:447980
Osteogenesis Imperfecta	Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur ...	ORPHA:666
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Syndactyly, Narrow mouth, Growth delay, Camptodactyly	OMIM:616006
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy...	OMIM:261540
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, High palate, Syndactyly, Short stature, Broad hallux, Supernumerar...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, High palate, Syndactyly, Short stature, Broad hallux, Supernumerar...	ORPHA:353277
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Long eyelashes, Camptodactyly, Prominent finge...	OMIM:618529
Atelosteogenesis Type I	Telecanthus, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral h...	ORPHA:1190
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Congenital hip dislocation, Corneal opacity, Abnormal cornea morphology, Downslanted ...	ORPHA:357058
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Short palpebral fissure, Blepharophimosis, Mi...	OMIM:170390
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing...	OMIM:250220
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cataract, Rocker bottom foot, Tapered finger, Finger clinodactyly, Shallow orbits, Long eyelashes...	OMIM:601353
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Single transverse palmar crease, Bilateral c...	OMIM:616788
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul...	OMIM:226960
Zellweger Syndrome	Epicanthus, Cataract, Corneal opacity, Micrognathia, Brushfield spots, Upslanted palpebral fissur...	ORPHA:912
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Cranioectodermal Dysplasia 4	Short stature, Hip dysplasia, Thin vermilion border, Cutaneous finger syndactyly, Taurodontia, Br...	OMIM:614378
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Ptosis, Laterally extended eyebrow, Toe syndactyly, Hooded eyelid, Single transverse palmar creas...	OMIM:610759
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Telecanthus, Proximal placement of thumb, Sparse eyeb...	OMIM:615789
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Short stature, Single transverse palmar crease, Micromelia, Broad hallux, Postnatal g...	OMIM:614800
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Brachydactyly, Epicanthus, Telecanthus, Upslanted palpebral fissure, Contracture of t...	OMIM:618050
Odontoonychodermal Dysplasia	Abnormality of primary teeth, Agenesis of permanent teeth, Palmoplantar hyperkeratosis, Conical i...	OMIM:257980
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Blepharophimosis, Abnormal conjunctiva morphology, Eyelid coloboma, Shor...	ORPHA:3339
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Coxa valga, M...	OMIM:618150
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Ptosis, Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Epicanthus, Bilateral single transverse palmar creases, Large hands, Downslanted palpebral fissur...	ORPHA:1770
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac...	OMIM:612813
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly...	OMIM:305600
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Short femoral neck, ...	OMIM:313400
Tooth Agenesis, Selective, 4	Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr...	OMIM:150400
Gardner Syndrome	Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition	ORPHA:79665
Pelvis-Shoulder Dysplasia	Syndactyly, Short stature, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mic...	ORPHA:2839
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Brachydactyly, Epican...	ORPHA:192
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Small for gestational age, Microgn...	ORPHA:96182
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Sandal gap, Micrognathia, 2-4 toe syndactyly, Postaxial polydactyly, 2...	OMIM:614099
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,...	OMIM:618019
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Short stature, Dental crowding, Broad hallux, Carious teeth, Avascular necrosis of t...	ORPHA:353281
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Combined Oxidative Phosphorylation Deficiency 2	Brachydactyly	OMIM:610498
Farber Disease	Abnormality of the knee, Corneal opacity, Abnormality of the hand, Abnormal foot morphology, Shor...	ORPHA:333
Larsen Syndrome	Short metacarpal, Corneal opacity, Spatulate thumbs, Elbow dislocation, Talipes equinovalgus, Dis...	OMIM:150250
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Micrognathia, Ankyloblepharon, Hypoplastic iliac wing, Pterygium, Shor...	OMIM:263650
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Osteoglophonic Dysplasia	Short metatarsal, Shallow orbits, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad met...	OMIM:166250
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Split...	ORPHA:989
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Highly arched eyebrow, Micro...	ORPHA:2083
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Dacryocystitis, Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Exaggerated cupid's bow, Postaxial polydactyly, Open bite, High...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Exaggerated cupid's bow, Postaxial polydactyly, Open bite, High...	ORPHA:352665
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Cleft upper lip, Postnatal growth...	OMIM:263750
Rhyns Syndrome	Brachydactyly, Radial bowing, Short long bone, Short femoral neck, Ptosis	OMIM:602152
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Tibial Hemimelia	Absent tibia	OMIM:275220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity	OMIM:613153
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypoplastic vertebral bodies, Abnorm...	ORPHA:2746
Mucopolysaccharidosis Type 4	Bowing of the long bones, Corneal opacity, Coxa valga, Genu valgum, Abnormal epiphysis morphology...	ORPHA:582
Rapp-Hodgkin Syndrome	Syndactyly, Short stature, Conical tooth, Hypoplasia of the maxilla, Cleft upper lip, Velopharyng...	OMIM:129400
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Short palm	ORPHA:3238
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Oculocerebral Hypopigmentation Syndrome, Cross Type	Cataract, Arachnodactyly, Corneal opacity, Ectropion, Abnormal thumb morphology, Ocular albinism,...	ORPHA:2719
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial foot polydactyly, Y-shaped ...	OMIM:615996
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Mucolipidosis Type Iv	Genu recurvatum, Palmoplantar keratoderma, Corneal opacity	ORPHA:578
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Broad palm, Shallow anterior chamber, Shallow orbits...	OMIM:277600
Distal Deletion 12Q	Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Long philtrum, Microglo...	ORPHA:96149
Mesomelia-Synostoses Syndrome	Microretrognathia, Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, ...	OMIM:600383
Mucopolysaccharidosis, Type Vii	Epicanthus, Thick eyebrow, Corneal opacity, Metatarsus adductus, Hypoplasia of the odontoid proce...	OMIM:253220
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Diabetes mellitus, Short metatar...	OMIM:614813
Mucopolysaccharidosis Type 7	Corneal opacity, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone morphology, Diaphys...	ORPHA:584
Hall-Riggs Syndrome	Epicanthus, Abnormal epiphysis morphology, Limb undergrowth, Abnormal metaphysis morphology, Brac...	ORPHA:2107
Okur-Chung Neurodevelopmental Syndrome	Ptosis, Epicanthus, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Microgn...	OMIM:617062
Hurler Syndrome	Corneal opacity, Hypoplasia of the femoral head, Coxa valga, Bilateral ptosis, Metaphyseal wideni...	OMIM:607014
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Corneal opacity, Abnormal palmar dermatoglyphics, Camptodactyl...	ORPHA:2092
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Cataract, Talipes, Abnormality of the lower limb, Absent toe, S...	ORPHA:974
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Upslanted palpebral fissure, Short ...	ORPHA:1005
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Narrow pelvis bone, Narrow palpebral fissure, Abnormal epiphysis morpholog...	ORPHA:2637
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Cystinosis	Type I diabetes mellitus, Abnormal repetitive mannerisms, Polydipsia, Corneal opacity	ORPHA:213
Ctcf-Related Neurodevelopmental Disorder	Thin upper lip vermilion, Prominent fingertip pads, Broad hallux phalanx, Small for gestational a...	ORPHA:363611
Down Syndrome	Epicanthus, Cataract, Sandal gap, Bilateral single transverse palmar creases, Upslanted palpebral...	ORPHA:870
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Ptosis, Telecanthus, Proximal placement of thumb, Micrognathia, Short palm, Blepharop...	OMIM:217980
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Sanjad-Sakati Syndrome	Corneal opacity, Micrognathia, Small hand, Short foot, Astigmatism	ORPHA:2323
Al-Raqad Syndrome	Sandal gap, Brachydactyly	OMIM:616459
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Epicanthus, Hyperactivity, Single transverse palmar crease, Aggressive behavior, Sparse eyebrow, ...	OMIM:620075
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Epicanthus, Hyperactivity, Aggressive behavior, 2-3 toe cutaneous syndactyly, Decreased patellar ...	OMIM:620242
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Cataract, Short metatarsal, Brachydactyly	OMIM:612462
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Abnormal femoral epiphysis morphology, Nasolacrimal duct obstruction, Brachydactyly	ORPHA:3218
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Short clavic...	ORPHA:313855
Bloom Syndrome	Syndactyly, Small for gestational age, Postnatal growth retardation, Agenesis of maxillary latera...	OMIM:210900
Hurler-Scheie Syndrome	Corneal opacity, Camptodactyly of finger, Micrognathia, Thenar muscle atrophy, Contracture of the...	OMIM:607015
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Synostosis of carpal b...	ORPHA:90652
Prader-Willi Syndrome Due To Translocation	Pes planus, Overlapping toe, Iris hypopigmentation, Micrognathia, Almond-shaped palpebral fissure...	ORPHA:177907
Sjogren-Larsson Syndrome	Astigmatism, Opacification of the corneal epithelium	OMIM:270200
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Epicanthus, Hyperactivity, Postaxial polydactyly, Aggressive behavior, Synophrys, Upslanted palpe...	OMIM:615824
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Micrognathia, Sparse eyebrow, Metaphys...	OMIM:250410
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Finger c...	ORPHA:306542
Noonan Syndrome 1	Short stature, Failure to thrive in infancy, Micrognathia, Postnatal growth retardation, High, na...	OMIM:163950
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ...	OMIM:300963
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperactivity, Sandal gap, Broad hallux, Aggressive behavior, Synophrys, Self-injurious behavior,...	OMIM:616078
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Pes planus, Micrognathia, Absent eyelashes, Meta...	ORPHA:166035
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Epicanthus, Corneal opacity, Synophrys, 2-3 toe syndactyly, Upslante...	ORPHA:488632
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Ptosis, Cataract, Toe syndactyly, Sandal gap, Abnormality of thu...	ORPHA:235
Mosaic Trisomy 9	Corneal opacity, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Micr...	ORPHA:99776
Bardet-Biedl Syndrome 1	Syndactyly, Cataract, Diabetes mellitus, Postaxial polydactyly, Postaxial hand polydactyly, Insul...	OMIM:209900
Congenital Sialidosis Type 2	Polydactyly, Cataract, Corneal opacity, Developmental cataract	ORPHA:93400
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion	ORPHA:83601
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Broad hallux, Corneal opacity, Broad thumb	OMIM:272200
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Posterior subcapsular cataract, Metaph...	OMIM:271510
Hurler-Scheie Syndrome	Corneal opacity	ORPHA:93476
Crane-Heise Syndrome	Finger syndactyly, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Micrognathia, Cleft p...	ORPHA:1512
Orthostatic Hypotension 1	Ptosis, Neonatal hypoglycemia, Brachydactyly	OMIM:223360
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal toe morphology, Abnormal finger morphology, Corneal opacity	OMIM:163200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Aggressive behavior, Synophrys, 2-3 toe syndactyly, Abnormal repetitive mannerisms	ORPHA:391307
Gm1 Gangliosidosis	Corneal opacity, Camptodactyly of finger, Abnormal diaphysis morphology, Abnormal epiphysis morph...	ORPHA:354
Familial Adenomatous Polyposis	Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ...	ORPHA:733
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi...	OMIM:268310
Occipital Horn Syndrome	Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h...	ORPHA:198
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Ptosis, Epicanthus, Micrognathia, C...	ORPHA:1587
Kleefstra Syndrome 1	Single transverse palmar crease, Aggressive behavior, Synophrys, Upslanted palpebral fissure, Tal...	OMIM:610253
Neurotrophic Keratopathy	Diabetes mellitus, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosio...	ORPHA:137596
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5th toe, Synophr...	OMIM:608670
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth...	OMIM:615948
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Deep philtrum, 2-3 toe syndactyly,...	ORPHA:404440
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster...	OMIM:221900
Bardet-Biedl Syndrome 8	Obesity, Postaxial polydactyly	OMIM:615985
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Intrauterine growth retardation, Polydactyly, Hypoplastic ischia	OMIM:616910
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Microcephaly-Capillary Malformation Syndrome	Ptosis, Clinodactyly, Brachydactyly, Short distal phalanx of finger	OMIM:614261
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Abnormal palmar dermatoglyphics, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth,...	ORPHA:2728
Arboleda-Tham Syndrome	Mandibular prognathia, Downturned corners of mouth, Short philtrum, Genu varum, Microretrognathia...	OMIM:616268
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca	ORPHA:1806
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Micrognathia, Patellar aplasia, Narrow pelvis bone, Dee...	ORPHA:96061
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Short stature, Partial duplic...	OMIM:101400
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Polydactyly, Smooth philtrum	OMIM:602501
Distal Duplication 5Q	Hypoplasia of the ulna, Epicanthus, Absent thumb, Micrognathia, Hypoplasia of the radius, Downsla...	ORPHA:96097
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Epicanthus, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Patellar...	ORPHA:2916
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Absent eyebrow, Sandal gap, Single transverse palmar c...	OMIM:601358
Apc-Related Attenuated Familial Adenomatous Polyposis	Odontoma, Supernumerary tooth	ORPHA:247806
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te...	ORPHA:79500
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Epicanthus, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing r...	OMIM:200980
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Epicanthus, Toe syndactyly, Hyperactivity, Camptodactyly of finger, Proximal p...	ORPHA:261211
Walker-Warburg Syndrome	Cataract, Corneal opacity, Microcornea, Metatarsus valgus, Iris coloboma	ORPHA:899
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Epicanthus, Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clino...	ORPHA:1292
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Oral-pharyngeal dysphagia, Short long bone, Astigmatism, Short palm, Brachydactyly	OMIM:619184
Rauch-Steindl Syndrome	Epicanthus, Telecanthus, Hyperactivity, Highly arched eyebrow, Micrognathia, Almond-shaped palpeb...	OMIM:619695
Monosomy 18P	Ptosis, Epicanthus, Micrognathia, Brachydactyly	ORPHA:1598
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth, Hip dyspla...	ORPHA:531151
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Cleft palate	OMIM:607361
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Epicanthus, Single transverse palmar crease, Aggressive behavior, Synophrys, Dysphagi...	ORPHA:466943
Rin2 Syndrome	Pes planus, Upper eyelid edema, Downslanted palpebral fissures, Brachydactyly	ORPHA:217335
Meckel Syndrome, Type 2	Bowing of the long bones, Postaxial hand polydactyly, Cleft palate, Polydactyly, Intrauterine gro...	OMIM:603194
Jacobsen Syndrome	Ptosis, Epicanthus, Telecanthus, Micrognathia, Abnormal eyelash morphology, Missing ribs, Nasolac...	OMIM:147791
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palat...	ORPHA:434179
Lathosterolosis	Epicanthus, Toe syndactyly, Cataract, Talipes, Micrognathia, Postaxial hand polydactyly, Microcor...	ORPHA:46059
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r...	ORPHA:2021
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Cataract, Short metacarpal, Bowed hume...	OMIM:272460
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, Short phalanx of finger, ...	OMIM:143095
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ...	ORPHA:141099
Carey-Fineman-Ziter Syndrome	Brachydactyly, Epicanthus, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation ...	ORPHA:1358
Gomez-Lopez-Hernandez Syndrome	Self-injurious behavior, Hyperactivity, Downslanted palpebral fissures, Opacification of the corn...	OMIM:601853
Fish-Eye Disease	Corneal opacity	ORPHA:79292
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
Gracile Bone Dysplasia	Aniridia, Slender long bone, Flared metaphysis, Brachydactyly	OMIM:602361
De Barsy Syndrome	Epicanthus, Congenital hip dislocation, Cataract, Corneal opacity, Coxa vara, Talipes calcaneoval...	ORPHA:2962
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Epicanthus, Single transverse palmar crease, Aggressive behavior, Synophrys, Dysphagi...	ORPHA:466950
Joubert Syndrome 27	Thick lower lip vermilion, Polydactyly	OMIM:617120
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cleft lip, Dental malocclusion, Cleft palate, Hypoplasia of teeth, Hi...	OMIM:603457
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ...	OMIM:617425
Acromelic Frontonasal Dysplasia	Telecanthus, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Aplasia/Hypopla...	ORPHA:1827
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short stature, Single transverse palmar crease, ...	OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Supernumerary tooth, Retrognathia, Widely spaced teeth, Cleft soft palate	ORPHA:268261
Pseudohypoparathyroidism Type 1C	Short metacarpal, Cataract, Short fifth metatarsal, Short metatarsal, Polyphagia, Conjunctivitis,...	ORPHA:79444
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Brachydactyly, Rhizomelia, Broad thumb, Mesomelia	ORPHA:171866
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Telecanthus, Palpebral edema, Talipes equinovarus, Camptodactyly, Clinodactyly, Short palpebral f...	ORPHA:397709
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Epicanthus, Telecanthus, Rhizomelia, Thick eyebrow, Abnormality o...	ORPHA:319182
Cockayne Syndrome	Severe short stature, Abnormal dental morphology, Delayed eruption of primary teeth, Cachexia, Po...	ORPHA:191
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Median cleft lip, Hypodontia, Accessory oral frenulum	OMIM:617088
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Brachydactyly	OMIM:614592
Maternal Phenylketonuria	Epicanthus, Hyperactivity, Bifid distal phalanx of the thumb, Micrognathia, Bilateral ptosis, Cli...	ORPHA:2209
3C Syndrome	Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Do...	ORPHA:7
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Single transverse palmar crease, Micrognathi...	OMIM:247200
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Ptosis, Brachydactyly, Short palm	ORPHA:3217
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Ptosis, Epicant...	ORPHA:794
Orofaciodigital Syndrome Xix	Epicanthus, Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Posta...	OMIM:620107
Oculoauricular Syndrome	Cataract, Short mandibular rami, Sclerocornea, Nasolacrimal duct obstruction, Developmental catar...	OMIM:612109
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro...	ORPHA:3472
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Synophrys, Thick eyebrow, Brachydactyly	ORPHA:247768
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth	ORPHA:314647
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
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Highly arched eyebrow, I...	OMIM:618143
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Epicanthus, Overlapping toe, Single transverse palmar crease, Limited ...	ORPHA:221120
Specific Granule Deficiency 2	Sandal gap, Brachydactyly	OMIM:617475
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Cleft palate, Pos...	OMIM:614175
Craniofacioskeletal Syndrome	Pes planus, Blepharophimosis, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, ...	OMIM:300712
Trisomy 20P	Finger syndactyly, Epicanthus, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Tali...	ORPHA:261318
Larsen Syndrome	Finger syndactyly, Brachydactyly, Short stature, Accessory carpal bones, Cleft palate, Abnormal e...	ORPHA:503
Septooptic Dysplasia	Polydactyly, Short stature, Short finger	OMIM:182230
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Preaxial polydactyly, Abnormal temper tantrums, Skin-picking,...	ORPHA:163681
Incontinentia Pigmenti	Finger syndactyly, Cataract, Corneal opacity, Camptodactyly of finger, Keratitis, Abnormal hand m...	ORPHA:464
Mccune-Albright Syndrome	Abnormal femur morphology, Dental malocclusion, Abnormal facial skeleton morphology	ORPHA:562
Ectodermal Dysplasia And Immunodeficiency 1	Conical incisor	OMIM:300291
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Corneal opacity, Structural foot de...	ORPHA:464306
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Ankle flexion contracture, Tapered finger, Short toe, Short foot, Astigmatism, A...	ORPHA:464311
Alg8-Cdg	Brachydactyly, Cataract, Talipes equinovarus, Camptodactyly	ORPHA:79325
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Sialidosis Type 1	Cataract, Corneal opacity	ORPHA:812
Congenital Disorder Of Glycosylation, Type Iil	Failure to thrive, Postaxial polydactyly, Growth delay, Hip dysplasia, Intrauterine growth retard...	OMIM:614576
Kindler Epidermolysis Bullosa	Finger syndactyly, Corneal opacity, Camptodactyly of finger, Palmoplantar keratoderma, Conjunctiv...	ORPHA:2908
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Finger syndactyly, Abnor...	ORPHA:2911
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Micromelia, Brachydactyly	ORPHA:93274
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Abnormal repetitive mannerism...	ORPHA:508533
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Mucopolysaccharidosis, Type Iva	Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Hypoplasia of ...	OMIM:253000
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Dysphagia	ORPHA:93399
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Absent eyel...	ORPHA:920
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow...	OMIM:312870
Tyrosinemia Type 2	Palmoplantar keratoderma, Corneal opacity	ORPHA:28378
Mucopolysaccharidosis Type 3	Hyperactivity, Cataract, Corneal opacity, Aggressive behavior, Avascular necrosis of the capital ...	ORPHA:581
Congenital Disorder Of Deglycosylation 1	Restlessness, Corneal opacity, Single transverse palmar crease, Oral-pharyngeal dysphagia, Small ...	OMIM:615273
Stromme Syndrome	Cataract, Sclerocornea, Micrognathia, Preaxial polydactyly, Microcornea, Peters anomaly, Iris col...	OMIM:243605
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Micrognathia, Sparse eyebrow, Aggressive behavior, Synophrys,...	ORPHA:495875
Basal Cell Nevus Syndrome 1	Cataract, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of hand bones...	OMIM:109400
Myhre Syndrome	Ptosis, Brachydactyly, Cataract, Blepharophimosis, Abnormal epiphysis morphology, Short palm, Lar...	ORPHA:2588
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Narrow mouth, Complete duplication of thumb ph...	ORPHA:59315
Wilson Disease	Kayser-Fleischer ring, Hypersexuality, Abnormality of the hand, Aggressive behavior	ORPHA:905
Meckel Syndrome, Type 8	Polydactyly, Talipes equinovarus, Cleft palate, Cleft upper lip	OMIM:613885
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Pseudohypoparathyroidism Type 1A	Short metacarpal, Cataract, Short fifth metatarsal, Band keratopathy, Broad 1st metacarpal, Short...	ORPHA:79443
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Epicanthus, Brachydactyly, Lacrimal duct stenosis, Ptosis	ORPHA:457193
Craniofrontonasal Syndrome	Telecanthus, Toe syndactyly, Broad hallux, Down-sloping shoulders, Downslanted palpebral fissures...	OMIM:304110
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Brachydactyly	OMIM:618265
Mend Syndrome	Microretrognathia, Hyperactivity, Cataract, Broad hallux, Overlapping toe, Micrognathia, Long fin...	OMIM:300960
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Corneal opacity, Hypoplasia of the odontoid process, Metaphyseal widening, ...	OMIM:253200
Hurler Syndrome	Corneal opacity, Camptodactyly of finger, Abnormality of the elbow, Narrow pelvis bone, Abnormal ...	ORPHA:93473
Schimke Immuno-Osseous Dysplasia	Wide capital femoral epiphyses, Corneal opacity, Abnormal femoral head morphology, Hypoplastic pe...	ORPHA:1830
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Epicanthus, Abnormal acetabulum morphology, Postaxial polydactyl...	ORPHA:397715
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Monosomy 22Q13.3	Dental crowding, Dental malocclusion, Obesity, Large hands, Clinodactyly of the 5th finger, Malar...	ORPHA:48652
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Ptosis, Hyperactivity, Overlapping toe, Tapered finger, Micrognathia, Abnormal repetitive manneri...	OMIM:309590
Bardet-Biedl Syndrome 6	Syndactyly, Obesity, Postaxial polydactyly	OMIM:605231
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Narrow palpebral fissure, Synophrys, Micrognathia, Brachydactyly	OMIM:620156
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Sandal gap, Hamartoma of tongue, Postaxial polydactyl...	OMIM:174300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Knee flexion contracture, Irregular...	OMIM:618162
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, Shallow orbits, Phocome...	OMIM:268300
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Abnormal metaphysis morphology, Opacification of the corneal stroma, Genu v...	ORPHA:583
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Postnatal growth retardation, Epiphyseal stippling, Abnormal p...	OMIM:302960
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Telecanthus, Down-sloping shoulders, Micrognathia, Short foot, Upslanted palpe...	ORPHA:1974
Tarp Syndrome	Finger syndactyly, Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Microg...	ORPHA:2886
Macs Syndrome	Pes planus, Epicanthus, Palpebral edema, Single transverse palmar crease, Micrognathia, Sparse ey...	OMIM:613075
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Upslanted palpebral fissure, Camptodactyly, Clinodactyly of the 5th finger, Brachyd...	OMIM:619123
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Syndactyly, Duplication of phalanx of hallux, Stillbirth	OMIM:263630
Retinitis Pigmentosa 51	Polydactyly, Obesity	OMIM:613464
Osteoglosphonic Dysplasia	Micrognathia, Rhizomelia, Brachydactyly	ORPHA:2645
Pallister-Hall Syndrome	Natal tooth, Syndactyly, Mesoaxial foot polydactyly, Short stature, Toe syndactyly, Mesoaxial han...	OMIM:146510
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Syndactyly, Short stature, Microg...	OMIM:151050
Mend Syndrome	Telecanthus, Cataract, Broad hallux, Overlapping toe, Hyperactivity, Micrognathia, Aggressive beh...	ORPHA:401973
Short-Rib Thoracic Dysplasia 12	Epicanthus, Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short lo...	OMIM:269860
Tangier Disease	Ectropion, Opacification of the corneal stroma, Cicatricial ectropion	OMIM:205400
Genitopalatocardiac Syndrome	Postaxial hand polydactyly, Micrognathia, Downslanted palpebral fissures, Brachydactyly	ORPHA:2075
Lcat Deficiency	Corneal opacity	ORPHA:650
Distal Deletion 9P	Upslanted palpebral fissure, Epicanthus, Brachydactyly	ORPHA:1642
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Clinodactyly, 4-5 finger syndactyly, Hi...	OMIM:164200
Distal Duplication 17Q	Hallux valgus, Epicanthus, Hyperactivity, Rhizomelia, Overlapping toe, Arachnodactyly, Micrognath...	ORPHA:3379
Peroxisome Biogenesis Disorder 1A (Zellweger)	Epicanthus, Cataract, Ulnar deviation of the hand, Single transverse palmar crease, Rocker bottom...	OMIM:214100
Proteasome-Associated Autoinflammatory Syndrome 2	Clinodactyly, Brachydactyly	OMIM:618048
Helsmoortel-Van Der Aa Syndrome	Ectropion of lower eyelids, Polyphagia, Eyelid coloboma, Short 4th toe, Compulsive behaviors, Cli...	OMIM:615873
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Ankyloglossia, Micrognathia	OMIM:619525
Mucopolysaccharidosis Type 1	Corneal opacity, Split hand, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnorma...	ORPHA:579
Alpha-Mannosidosis, Adult Form	Cataract, Corneal opacity	ORPHA:309288
You-Hoover-Fong Syndrome	Clinodactyly, Paroxysmal bursts of laughter, Brachydactyly	OMIM:616954
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Mucolipidosis Ii Alpha/Beta	Micrognathia, Metaphyseal widening, Megalocornea, Sparse eyebrow, Hypoplasia of the odontoid proc...	OMIM:252500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Alpha-Mannosidosis, Infantile Form	Cataract, Corneal opacity, Highly arched eyebrow, Genu valgum, Cortical thickening of long bone d...	ORPHA:309282
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Promine...	OMIM:612474
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae	OMIM:601499
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Dental crowding, Cleft upper lip, Aplasia/Hypoplasia of the phal...	OMIM:219000
Ayme-Gripp Syndrome	Ptosis, Tapered finger, Developmental cataract, Upslanted palpebral fissure, Radioulnar synostosi...	OMIM:601088
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Mesiodens, Cleft maxillary alveolar ridge, Long phil...	ORPHA:508488
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Upslanted palpebral fissure, Deep palmar crease, Brachydac...	ORPHA:1752
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ...	ORPHA:93325
Limb Body Wall Complex	Duplication of hand bones, Corneal opacity, Broad hallux, Aplasia/hypoplasia involving bones of t...	ORPHA:2369
Neurocardiofaciodigital Syndrome	Syndactyly, Failure to thrive, Short stature, Small for gestational age, Thin vermilion border, H...	OMIM:619869
Myhre Syndrome	Thick eyebrow, Cataract, Overlapping toe, Blepharophimosis, Short toe, 2-3 toe syndactyly, Cone-s...	OMIM:139210
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Arachnodactyly, Protrusio acetabuli, Camptodactyl...	ORPHA:284984
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Epicanthus, Arachnodactyly, Short hallux, Sclerocornea, Highly arched ey...	ORPHA:280
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Micrognathia, Hypoplasia of the iris, Talipes equinovarus, Opacification of...	OMIM:251300
Chand Syndrome	Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphol...	ORPHA:1401
Catel-Manzke Syndrome	Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th...	OMIM:616145
Witteveen-Kolk Syndrome	Proximal placement of thumb, Anisocoria, Shallow orbits, Short palm, Clinodactyly of the 5th fing...	OMIM:613406
Dysostosis, Stanescu Type	Bowing of the long bones, Micromelia, Abnormal epiphysis morphology, Massively thickened long bon...	ORPHA:1798
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Williams Syndrome	Micrognathia, Microdontia, Clinodactyly of the 5th finger, Short stature, Abnormal dental enamel ...	ORPHA:904
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Micrognathia, Pos...	OMIM:619879
Fryns Syndrome	Clinodactyly of the 5th finger, Micrognathia, Corneal opacity, Short distal phalanx of finger	ORPHA:2059
Dubowitz Syndrome	Syndactyly, Epicanthus, Telecanthus, Pes planus, Single transverse palmar crease, Hyperactivity, ...	OMIM:223370
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Abnormal pelvis bone morphology, Corneal opacity, Camptodactyly of finger, Abnorm...	ORPHA:2273
Cerebrooculonasal Syndrome	Postaxial polydactyly, Postnatal growth retardation, Postaxial hand polydactyly, Narrow palate, C...	OMIM:605627
Rabson-Mendenhall Syndrome	Mandibular prognathia, Short stature, Dental crowding, Abnormality of the dentition, Gingival ove...	ORPHA:769
Orofaciodigital Syndrome Type 1	Finger syndactyly, Epicanthus, Telecanthus, Tarsal synostosis, Micrognathia, Preaxial hand polyda...	ORPHA:2750
Joubert Syndrome 23	Polydactyly	OMIM:616490
Chops Syndrome	Cataract, Synophrys, Long eyelashes, Thick eyebrow, Brachydactyly	OMIM:616368
Neurofibromatosis Type 1	Cataract, Corneal opacity, Abnormal eyelid morphology, Genu valgum, Slender long bone, Abnormal h...	ORPHA:636
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Cataract, Brachydactyly, Bowing of the long bones, Telecant...	ORPHA:955
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Epicanthus, Cataract, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Large hands,...	ORPHA:500095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Down Syndrome	Epicanthus, Sandal gap, Single transverse palmar crease, Brushfield spots, Hypoplastic iliac wing...	OMIM:190685
Fraser Syndrome	Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Dental malocclusion, Orofaci...	ORPHA:2052
Mosaic Variegated Aneuploidy Syndrome	Epicanthus, Cataract, Corneal opacity, Micrognathia, Abnormality of the upper limb, Clinodactyly ...	ORPHA:1052
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ...	OMIM:304120
Senior-Loken Syndrome 9	Polydactyly, Hypoplasia of the femoral head, Obesity	OMIM:616629
Coloboma, Ocular, Autosomal Dominant	Corneal opacity, Peters anomaly	OMIM:120200
Mckusick-Kaufman Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Postaxial hand polydactyly, Cleft palate, Po...	ORPHA:2473
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavicle, Micro...	ORPHA:2636
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Campomelia, Cumming Type	Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly	ORPHA:1318
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Mullegama-Klein-Martinez Syndrome	Thin upper lip vermilion, Short stature, Micrognathia, Cleft lip, Cleft palate, Submucous cleft o...	OMIM:301022
Oculoectodermal Syndrome	Epicanthus, Hyperactivity, Lower limb asymmetry, Microcornea, Eyelid coloboma, Astigmatism, Opaci...	OMIM:600268
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Po...	OMIM:617527
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ptosis, Cataract, Highly arched eyebrow, Micrognathia, Synophrys, Small hand, Fibular hypoplasia,...	ORPHA:444077
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ankle clonus, Pes valgus, Brachydactyly	OMIM:619995
Scheie Syndrome	Corneal opacity	ORPHA:93474
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Peters Plus Syndrome	Cataract, Corneal opacity, Toe syndactyly, Micromelia, Rhizomelia, Micrognathia, Short toe, Micro...	ORPHA:709
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me...	OMIM:216340
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Cubitus valgus, Microretrognathia, Brachydactyly	OMIM:620237
Radio-Renal Syndrome	Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd...	ORPHA:3015
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Cranioectodermal Dysplasia 2	Unilateral ptosis, Syndactyly, Epicanthus, Telecanthus, Rhizomelia, Sparse eyelashes, Micrognathi...	OMIM:613610
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Micrognathia, Abnormal pupil morphology, Hip dislocation, Genu valgum,...	ORPHA:534
Apolipoprotein A-I Deficiency	Xanthelasma, Opacification of the corneal stroma	ORPHA:425
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ptosis, Telecanthus, Epicanthus, Violent behavior, Highly arched eyebrow, Broad 2nd toe, Long foo...	OMIM:280000
Williams-Beuren Syndrome	Hallux valgus, Short stature, Failure to thrive in infancy, Down-sloping shoulders, Thick lower l...	OMIM:194050
Joubert Syndrome 16	Polydactyly	OMIM:614465
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Short fourth metatarsal, Short fifth metatarsal,...	OMIM:619841
Holoprosencephaly	Brachydactyly, Epicanthus, Hypoglycemia, Talipes, Highly arched eyebrow, Diabetes mellitus, Synop...	ORPHA:2162
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Sclerocornea	OMIM:613001
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Tented upper lip vermilion, Micrognathia, Deep philtrum, Polydactyly, High palate	ORPHA:314655
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Pes cavus, Epicanthus, Proportionate shortening of all digits, Tapered finger,...	ORPHA:280633
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Synophrys, Elbow flexion ...	OMIM:619777
Lathosterolosis	Epicanthus, Toe syndactyly, Cataract, Micrognathia, Postaxial hand polydactyly, Postaxial foot po...	OMIM:607330
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Cataract, Rhizomelic arm shortening, Brachydactyly	ORPHA:508542
Floating-Harbor Syndrome	11 pairs of ribs, Restlessness, Short metacarpal, Brachydactyly, Impulsivity, Aggressive behavior...	ORPHA:2044
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Tapered finger, Sparse eyebrow, Short thumb, Synophrys, Bilateral ptosis, Clinodactyly of the 5th...	ORPHA:477993
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Iris coloboma, Sclerocornea	ORPHA:77298
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma	OMIM:256540
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Epicanthus, Telecanthus, Self-injurious behavior, Talipes equinovarus, Clinodactyly of the 5th fi...	ORPHA:847
Familial Dysautonomia	Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity	ORPHA:1764
Fabry Disease	Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Anorexia, Abnormal fem...	ORPHA:324
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Brachydactyly, Drumstick terminal phalanges	OMIM:612938
Grange Syndrome	Finger clinodactyly, Syndactyly, Brachydactyly	OMIM:602531
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Bardet-Biedl Syndrome 12	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity	OMIM:615989
Schimke Immunoosseous Dysplasia	Hypoplasia of the capital femoral epiphysis, Astigmatism, Talipes equinovarus, Lateral displaceme...	OMIM:242900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Micrognathia, Buphthalmos, Peters anomaly, Megalocornea	OMIM:236670
Fucosidosis	Corneal opacity	ORPHA:349
Hereditary Cryohydrocytosis With Reduced Stomatin	Cataract, Zonular cataract, Brachydactyly	ORPHA:168577
Floating-Harbor Syndrome	11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Aggressive ...	OMIM:136140
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Culler-Jones Syndrome	Postaxial polydactyly, Short stature, Cleft palate, Cleft upper lip	OMIM:615849
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Micro...	DECIPHER:81
Mucopolysaccharidosis Type 2	Hyperactivity, Corneal opacity, Impulsivity, Aggressive behavior, Hip dysplasia, Abnormal temper ...	ORPHA:580
Autosomal Dominant Cutis Laxa	Ptosis, Pes planus, Corneal opacity, Genu recurvatum, Hip dislocation, Talipes calcaneovalgus, De...	ORPHA:90348
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Large for gestational age, Palmar ...	ORPHA:77301
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Palmoplantar hyperkeratosis, Keratoconjunctivitis, Ab...	ORPHA:2907
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Ptosis, Short metacarpal, Brachydactyly, Epicanthus, Short metatarsal, Astigmatism, Cubitus valgu...	OMIM:617157
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Diabetes...	ORPHA:649
Meckel Syndrome	Bowing of the long bones, Cataract, Talipes, Sclerocornea, Micrognathia, Preaxial hand polydactyl...	ORPHA:564
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly	OMIM:616028
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Sclerocorn...	OMIM:607932
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Polyphagia, Clinodactyly of the 5th finger, Self-mutilation, Oppositional defiant diso...	OMIM:607872
Legius Syndrome	Hyperactivity, Cataract, Diaphyseal dysplasia, Xanthelasma, Polydactyly, Attention deficit hypera...	ORPHA:137605
Choanal Atresia	Polydactyly, Chronic sinusitis	ORPHA:137914
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ptosis, Highly arched eyebrow, Short toe, Clinodactyly of the 5th finger, Down...	ORPHA:1519
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Micrognathia, Brushfield ...	OMIM:614866
1P36 Deletion Syndrome	11 pairs of ribs, Abnormal eyebrow morphology, Epicanthus, Cataract, Camptodactyly of finger, Low...	ORPHA:1606
Raine Syndrome	Bowing of the long bones, Highly arched eyebrow, Micromelia, Micrognathia, Downslanted palpebral ...	OMIM:259775
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Abnormal nasolacrimal system morphology, Aplastic clavicle, Abnormal metacarpa...	ORPHA:2658
Cinca Syndrome	Brachydactyly	ORPHA:1451
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Duplication of ...	ORPHA:2363
Mgat2-Cdg	Downslanted palpebral fissures, Long eyelashes, Stereotypical hand wringing, Brachydactyly	ORPHA:79329
Charge Syndrome	Hypoplasia of the ulna, Cataract, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Microg...	OMIM:214800
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Loeys-Dietz Syndrome 3	Arachnodactyly, Protrusio acetabuli, Dental malocclusion, Cleft palate, High palate, Talipes equi...	OMIM:613795
Histiocytoid Cardiomyopathy	Megalocornea, Corneal opacity, Congenital aphakia, Hypoglycemia	ORPHA:137675
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Absent eyebrow, Corneal opacity, Coxa valga, Limited wrist move...	ORPHA:740
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Ptosis, Epicanthus, Pes planus, Hyperactivity, Tapered finger, Micrognathia, Paroxysmal bursts of...	OMIM:309580
Pseudo-Torch Syndrome 1	Microretrognathia, Cataract, Opacification of the corneal stroma	OMIM:251290
Toriello-Carey Syndrome	Telecanthus, Micrognathia, Sparse eyebrow, Clinodactyly, Short palpebral fissure, Brachydactyly	ORPHA:3338
Khan-Khan-Katsanis Syndrome	Tented upper lip vermilion, Short stature, Postaxial polydactyly, Micrognathia, Clinodactyly, Int...	OMIM:618460
Linear Skin Defects With Multiple Congenital Anomalies 3	Lacrimal duct atresia, Sclerocornea	OMIM:300952
Charge Syndrome	Ptosis, Epicanthus, Talipes, Highly arched eyebrow, Abnormal tibia morphology, Bifid femur, Eyeli...	ORPHA:138
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hallux valgus, Corneal opacity, Abnormal temper tantrums, Pes cavus, Ptosis	ORPHA:2072
Fryns Syndrome	Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo...	OMIM:229850
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Cataract, Corneal opacity, Camptodactyly of finger, Short femur, Entropi...	ORPHA:3455
Meckel Syndrome, Type 1	Thin upper lip vermilion, Natal tooth, Bowing of the long bones, Syndactyly, Camptodactyly of fin...	OMIM:249000
Tangier Disease	Corneal opacity, Ectropion	ORPHA:31150
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I...	ORPHA:42775
Microphthalmia With Linear Skin Defects Syndrome	Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnormal eyelid morpholog...	ORPHA:2556
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly	OMIM:619479
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Sparse eyebrow, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachydac...	ORPHA:1521
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Postnatal growth r...	OMIM:113620
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Palpebral edema, Micrognathia, Aggressive behavior, Abnormal repetitive mannerisms...	OMIM:614756
Cardiospondylocarpofacial Syndrome	Ptosis, Epicanthus, Telecanthus, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepip...	OMIM:157800
Pallister-Hall Syndrome	Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Polydacty...	ORPHA:672
Meester-Loeys Syndrome	Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Downslanted palpebral ...	OMIM:300989
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Palmoplantar keratoderma, Corneal opacity	ORPHA:79396
Mucoepithelial Dysplasia, Hereditary	Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis	OMIM:158310
Noonan Syndrome	Brachydactyly, Micrognathia, Radioulnar synostosis, Clinodactyly of the 5th finger, Downslanted p...	ORPHA:648
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Keratitis, Ankyloblepharon, Opacification of th...	ORPHA:910
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Single transverse palmar crease, Sclerocornea, Peters anomaly, Iris coloboma	OMIM:309801
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus...	OMIM:606170
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndactyly, Preaxial foot pol...	OMIM:619471
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Retinitis Pigmentosa 74	Polydactyly, Obesity	OMIM:616562
Pgm3-Cdg	Narrow palpebral fissure, Decreased/absent ankle reflexes, Brachydactyly	ORPHA:443811
Mucopolysaccharidosis Type 2, Severe Form	Hip dysplasia, Corneal opacity, Camptodactyly of finger, Diaphyseal thickening	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Hip dysplasia, Corneal opacity, Camptodactyly of finger, Diaphyseal thickening	ORPHA:217093
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ...	OMIM:175780
Degcags Syndrome	Syndactyly, Failure to thrive, Toe syndactyly, Small for gestational age, Micrognathia, Protrudin...	OMIM:619488
Joubert Syndrome 39	Overweight, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Microphthalmia, Syndromic 1	Syndactyly, Dental crowding, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Cleft upper...	OMIM:309800
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Hyperglycemia, Polydipsia, Po...	ORPHA:293987
Cowden Syndrome	Cataract, Conjunctival hamartoma, Palmoplantar keratoderma, Brachydactyly	ORPHA:201
Wilson Disease	Kayser-Fleischer ring, Glycosuria, Pedal edema, Dysphagia	OMIM:277900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Orofacial cleft, Growth delay, Polydactyly, Failure to thrive	ORPHA:17
Microphthalmia, Syndromic 3	Cataract, Missing ribs, Sclerocornea, Vertebral hypoplasia	OMIM:206900
Vater/Vacterl Association	Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, P...	OMIM:192350
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Micrognathia, Cleft palat...	OMIM:610168
Gaucher Disease, Type Iiic	Pes cavus, Opacification of the corneal stroma	OMIM:231005
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Keratitis, Absent eyelashes, Postaxial hand polydactyly, Hip dislocation, Ectroda...	OMIM:308205
Gaucher Disease	Corneal opacity, Dysphagia	ORPHA:355
Digeorge Syndrome	Sclerocornea, Micrognathia, Patellar dislocation, Attention deficit hyperactivity disorder, Bleph...	OMIM:188400
Okamoto Syndrome	Exaggerated median tongue furrow, Tented upper lip vermilion, Open bite, Cleft palate, Downturned...	ORPHA:2729
Adams-Oliver Syndrome 1	Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Buphthalmos, Opacification of the corneal stroma, Megalocornea	OMIM:253280
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Combined Pituitary Hormone Deficiencies, Genetic Forms	Pituitary dwarfism, Growth delay, Polydactyly, Delayed puberty, Abnormal digit morphology, Median...	ORPHA:95494
Biliary, Renal, Neurologic, And Skeletal Syndrome	Syndactyly, Short stature, Postaxial polydactyly, Broad first metatarsal, Everted lower lip vermi...	OMIM:619534
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Abnormality of the dentition	OMIM:615266
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Opacification of the corneal stroma	OMIM:615287
Normosmic Congenital Hypogonadotropic Hypogonadism	Eunuchoid habitus, Abnormality of the dentition, Cleft palate, Camptodactyly, Delayed puberty	ORPHA:432
Kallmann Syndrome	Tooth agenesis, Cleft palate	ORPHA:478

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 Spry4

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 Spry4.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Regulation of positive and negative selection and TCR signaling during thymic T cell development by capicua.	eLife (December 2021)	Spry4^{tm1a(KOMP)Mbp}	PMC8700290

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Spry4^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Spry4^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Spry4^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Spry4 MGI:1345144

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Eye Morphology

Human diseases caused by Spry4 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data