Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GLI-Kruppel family member GLI3
Synonyms:
Bph,  brachyphalangy

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Gli3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Gli3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Toes, Space Between First And Second
Sandal gap OMIM:189230
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Joubert Syndrome 13
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:614173
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Brachydactyly, Type A4
Talipes calcaneovalgus, Short middle phalanx of the 2nd finger, Type A brachydactyly, Congenital ... OMIM:112800
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Brachydactyly, Type A1, D
Short proximal phalanx of finger, Short proximal phalanx of thumb, Short distal phalanx of the 2n... OMIM:616849
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Hallux Varus-Preaxial Polysyndactyly Syndrome
Clinodactyly of the 5th finger, Sandal gap ORPHA:2110
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Still... OMIM:200700
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Postaxial hand polydactyly, Hydrocephalus OMIM:615938
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Absent tibia, Absent forearm, Split hand, Hand monodactyly, Split foot, Patellar ap... OMIM:119100
Tibial Hemimelia
Absent tibia OMIM:275220
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Ulnar deviation of the hand, Acetab... ORPHA:93307
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Isolated Congenital Onychodysplasia
Hip dysplasia, Partial duplication of the distal phalanx of the 2nd finger, Onychogryposis of fin... ORPHA:79144
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Hydrocephalus, Congenital, 1
Ventriculomegaly, Hydrocephalus OMIM:236600
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Dandy-Walker malformation ORPHA:1566
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Hy... OMIM:617294
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Curved Nail Of Fourth Toe
Congenital curved nail of fourth toe, Hyperconvex fingernails, Short distal phalanx of finger OMIM:219070
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Leri-Weill Dyschondrosteosis
Scoliosis, Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bone... OMIM:127300
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Spinal dysraphism, Elbow pain, Limited shoulder movem... ORPHA:93320
Pontocerebellar Hypoplasia, Type 12
Hypoplasia of the brainstem, Cerebellar hypoplasia OMIM:618266
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Platyspondyly, Femoral bowing, Flared iliac wing, Ulnar b... OMIM:602111
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Elbow dislocation, Dorsal subluxation of... ORPHA:240
Acromelic Frontonasal Dysostosis
Cryptorchidism, Choroid plexus cyst, Gray matter heterotopia, Polydactyly, Hypoplasia of the corp... OMIM:603671
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Widened distal phalanges, Radial bowing, Elbow dislocati... OMIM:108721
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Short me... OMIM:304120
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Narrow mouth, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Sternum, Premature Obliteration Of Sutures Of
Micrognathia, Short sternum, Premature sternal synostosis OMIM:184800
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, White f... ORPHA:2779
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Stillbirth, Preaxial foot polydactyly, Mirror image foot polydactyly, Patellar hypo... OMIM:119800
Lissencephaly 5
Hypoplasia of the brainstem, Porencephalic cyst, Type II lissencephaly, Occipital encephalocele, ... OMIM:615191
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Pachygyria, Drooling, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Congenital fibros... OMIM:610031
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Carious teeth, Hip dysplasia, Metaphyseal chondrodysplasia, Disproporti... ORPHA:2501
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Highly arched eyebrow, Cryptorchidism, Epiphys... OMIM:619135
Hydrolethalus Syndrome 2
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Hydrocephalus OMIM:614120
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral wh... ORPHA:352682
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Brachydactyly Type A2
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... ORPHA:93396
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, ... OMIM:615937
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant... OMIM:108720
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Open mouth, Micrognathia, Ptosis, Telecanthus, Knee flexion contracture, Simplifi... OMIM:616681
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomeli... ORPHA:166016
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Short nec... ORPHA:1427
Brachydactyly, Type D
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux OMIM:113200
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Rocker bottom foot, Long philtrum, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum... OMIM:619072
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Chudley-Mccullough Syndrome
Gray matter heterotopia, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplas... OMIM:604213
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Metaphyseal Acroscyphodysplasia
Scoliosis, Accelerated skeletal maturation, Irregular phalanges, Craniosynostosis, Short phalanx ... OMIM:250215
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Upper limb phocomelia,... ORPHA:294975
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Joint laxity, Structural foot deformity, Bowing of the legs, J... ORPHA:93323
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Bowing of the long bones, Intestinal malrotation, Tibial bowing, Intrauterine grow... ORPHA:3035
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation OMIM:223200
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Type II diabetes... OMIM:210720
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flatt... ORPHA:93356
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... OMIM:118651
Multiple Osteochondromas
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the meta... ORPHA:321
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Finger syndactyly, Pectus carinatum, Abnormality of the elbow, Synophrys, ... ORPHA:3268
Hartsfield Syndrome
Aplasia/Hypoplasia of the corpus callosum, Split hand, Encephalocele, Aplasia/Hypoplasia of the r... ORPHA:2117
Periventricular Nodular Heterotopia 7
Cryptorchidism, Gray matter heterotopia, Micrognathia, Hypoplasia of the corpus callosum, 2-3 toe... OMIM:617201
Brachydactyly, Type A1, B
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... OMIM:607004
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Anal atresia, Lower limb undergrow... ORPHA:2310
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Long philtrum, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislo... OMIM:171480
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Narrow mouth, Talipes, Hypoplasia of the ... OMIM:227270
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Heyn-Sproul-Jackson Syndrome
Short phalanx of finger, Sparse hair, 11 pairs of ribs, Short metacarpal, Broad phalanx, Broad me... OMIM:618724
Oculocerebrocutaneous Syndrome
Cryptorchidism, Orbital encephalocele, Congenital hip dislocation, Gray matter heterotopia, Hypop... OMIM:164180
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelic short stature, Madelung de... OMIM:249700
Shox-Related Short Stature
Scoliosis, Genu valgum, Cubitus valgus, Micrognathia, Ulnar radial head dislocation, Madelung def... ORPHA:314795
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Joint laxity, Short phalanx of finger, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Widely-spaced maxillary central i... OMIM:136760
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Fibular bowing, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Ventriculomegaly, Polymicrogyria, Subcortical band hetero... OMIM:600348
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Dental crowding, Hypoplasia of the corpus callosum, Pes planus, Upslanted palpebral fissure, Smoo... OMIM:612948
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callos... OMIM:611603
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Broad thumb, Flared ... OMIM:609945
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Anterior hypopituitarism, Short ribs, Microgl... OMIM:241800
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Cerebellar hypoplasia... OMIM:618174
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Abnormal form of the vertebral bodies, ... ORPHA:40
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... OMIM:601376
Microcephaly 13, Primary, Autosomal Recessive
Metaphyseal sclerosis, Micrognathia, Cerebellar hypoplasia, Small hand, Short foot, Microcephaly,... OMIM:616051
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Hypertension And Brachydactyly Syndrome
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal OMIM:112410
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Anterior tibial bowing, Fibular b... OMIM:112350
Coloboma Of Macula-Brachydactyly Type B Syndrome
Camptodactyly of finger, Broad thumb, Absent fingernail, Fingernail dysplasia, Short distal phala... ORPHA:1471
Craniorhiny
Craniosynostosis, Oxycephaly, Hirsutism, Turricephaly, Anteverted nares, Wide nose OMIM:123050
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Congenital fibrosis of extraocular muscles, M... ORPHA:300570
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Duane Retraction Syndrome
Aniridia, Narrow internal auditory canal, Optic disc hypoplasia, Camptodactyly, Iris coloboma, Ab... ORPHA:233
Microphthalmia With Limb Anomalies
Postnatal growth retardation, Sandal gap, High palate, Depressed nasal bridge, Postaxial hand pol... OMIM:206920
Duane-Radial Ray Syndrome
Scoliosis, Crossed fused renal ectopia, Choanal stenosis, Optic disc hypoplasia, Pes planus, Choa... OMIM:607323
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Subcortical heterotopia, Abnormality of neuronal migration, Po... ORPHA:101029
Microcephaly 5, Primary, Autosomal Recessive
Highly arched eyebrow, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypoplasia... OMIM:608716
Craniotelencephalic Dysplasia
Hydrocephalus, Arrhinencephaly, Cerebellar hypoplasia, Septo-optic dysplasia, Frontal encephaloce... ORPHA:1528
Acrofacial Dysostosis 1, Nager Type
Scoliosis, Atresia of the external auditory canal, Patent ductus arteriosus, Bicornuate uterus, A... OMIM:154400
Masa Syndrome
Camptodactyly of finger, Ventriculomegaly, Hand clenching, Clinodactyly of the 5th finger, Agenes... ORPHA:2466
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Lissencephaly 1
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Abnormal cerebral white matter morphol... OMIM:607432
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Micrognathia, Hyperconvex nail, Short distal ... OMIM:311895
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Anal atresia, Short stature, T... ORPHA:1436
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Cerebellar cortical atrophy ORPHA:171622
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Tooth malposition, Abnormal hair morphology, Abnormality of the pinna, M... OMIM:277150
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome, ... OMIM:307800
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Disproportionate short stature,... OMIM:250400
Brachydactyly Type A1
Short hallux, Scoliosis, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shap... ORPHA:93388
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the brainstem, Thick cerebral cortex, Hypoplasia of the corpus callosum, Ventriculo... OMIM:618677
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Mandibular... OMIM:223800
Corpus Callosum, Agenesis Of
Microcephaly, Camptodactyly, Agenesis of corpus callosum, Joint contracture of the hand OMIM:217990
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Flared iliac wing, Elbow dislocation, Hypoplastic frontal sinuses, ... ORPHA:90652
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Hydrocephalus With Associated Malformations
Intestinal malrotation, Tibial bowing, Lower limb undergrowth, Pulmonary hypoplasia, Short lower ... OMIM:236640
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Long philtrum, Everted lower lip vermilion, Hirsutism, Hypoplasia of the ulna, Synophrys, Thin up... ORPHA:357175
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Abnormality o... ORPHA:2768
Acromelic Frontonasal Dysplasia
Cryptorchidism, Choroid plexus cyst, Ventriculomegaly, Preaxial foot polydactyly, Encephalocele, ... ORPHA:1827
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Mental Retardation, Autosomal Recessive 35
Long philtrum, Downturned corners of mouth, Everted lower lip vermilion, Hirsutism, Hypoplasia of... OMIM:615162
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Abnormal form of the vertebral bodies, Rhizom... ORPHA:2831
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... ORPHA:1453
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Hydroureter, Camptodac... OMIM:201000
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Flexion contracture, Absent ossification... OMIM:245160
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Gombo Syndrome
Clinodactyly, Brachydactyly, Microphthalmia, Radial deviation of finger OMIM:233270
Phocomelia, Schinzel Type
Cryptorchidism, Abnormality of tibia morphology, High, narrow palate, Short neck, Micrognathia, E... ORPHA:2879
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Cer... OMIM:618730
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Agenesis of corpus callosum, Hydrocephalus OMIM:166990
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Mild short stature, Short... OMIM:156500
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Chron... OMIM:300554
Lissencephaly 8
Talipes equinovarus, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculome... OMIM:617255
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Synostosis of carpal bones, Elbow dis... ORPHA:90650
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Cryptorchidism, Tarsal synostosis, Broad thumb, Elbow dislocation, ... ORPHA:1106
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormality of the antihelix, Craniosynostosis, Tarsal synostosis, Choanal stenosis, Decreased ci... ORPHA:95699
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Gastrointestina... ORPHA:1505
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Macrocephaly, Childhood onset short-limb short stature, Abno... ORPHA:429
Verheij Syndrome
Scoliosis, Long philtrum, Renal agenesis, Short nose, Renal hypoplasia, Growth delay, Hemivertebr... OMIM:615583
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... OMIM:259420
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Pes pla... OMIM:143095
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteo... ORPHA:53697
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Trisomy 13
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Hydrops fetalis, Patent ductus arteriosu... ORPHA:3378
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Bulbous nose, Abnormality of the metacarpal bones, Joint stiffne... ORPHA:2496
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Hematuria, Proteinuria, Mesomelic short stature, Madelung deformity, Aplasia/Hypop... ORPHA:1765
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Broad nasal tip, Polydactyly, Syndactyly, Hypoplasia of the epigl... OMIM:300484
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Hypoplasia of the brainstem, Cerebellar hypoplasia, Polymicrogyria, Cortical dysplasia, Microcephaly OMIM:615771
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Edema of the dorsum of ... OMIM:274000
Short Stature-Wormian Bones-Dextrocardia Syndrome
Camptodactyly of finger, Wormian bones, Delayed eruption of teeth, Midshaft hypospadias, Abnormal... ORPHA:2863
Leg, Absence Deformity Of, With Congenital Cataract
Scoliosis, Anal atresia, Abnormality of the lower limb, Duplication involving bones of the feet OMIM:246000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Death in infancy, Unilateral renal agenesis, Sacral dimple, Vertebral f... OMIM:618845
Kyphomelic Dysplasia
Dumbbell-shaped humerus, Flat acetabular roof, Ulnar bowing, Micrognathia, Femoral bowing, Depres... OMIM:211350
Acrodysostosis
Open bite, Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metat... ORPHA:950
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Hydrocephalus, Toe syndactyly... ORPHA:380
Microcephaly-Micromelia Syndrome
Craniosynostosis, Forearm undergrowth, Absent radius, Abnormality of the ribs, Short neck, Microg... OMIM:251230
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Underdeveloped nasal alae, Dental crowding, High palat... OMIM:600920
Prenatal Bowing
Bowing of the long bones OMIM:264050
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Preaxial hand polydactyly, Cleft upper lip, Cleft palate OMIM:601420
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Rhombencephalosynapsis, Abnormal midbrain morphology, Megal... ORPHA:280195
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, D... OMIM:154780
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Mesomelia, Talipes equinovalgus, Short tibia, Hip dislocation, Fibular ap... OMIM:605274
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Oligodactyly, Almond-shaped palpebral fissure, Downturned corners of mouth, Pes planus, Thin uppe... ORPHA:521308
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Partial duplication of the proximal phalanx of the 3rd finger, Partial duplica... ORPHA:363417
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Abnormality of neuronal m... OMIM:604317
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Brachydactyly Type C
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... ORPHA:93384
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Pectus excavatum, Short sternum, Hyperconvex nail, Supernumerary toot... OMIM:258850
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Femoral-Facial Syndrome
Scoliosis, Cryptorchidism, Aplasia/Hypoplasia of the tibia, Abnormality of the ribs, Abnormality ... ORPHA:1988
Stuve-Wiedemann Syndrome
Scoliosis, Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fr... OMIM:601559
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Postaxial polydactyly, Anencephaly, Ptosis, Cleft palate, O... OMIM:614175
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Long philtrum, Abnormality of dental morphology, Upper limb phocomelia, Conduct... ORPHA:2878
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Absent toenail, Hypoplastic toenails, Toe syndactyly, Anonychia, Symphal... ORPHA:1113
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Pes planus, Thoracic kyphosis, Large hands, Synophrys, Long toe, Cleft lip, Cleft palate, Low pos... OMIM:300263
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increas... ORPHA:251028
Jawad Syndrome
4-5 toe syndactyly, Thoracic scoliosis, Short middle phalanx of the 5th finger, Retrognathia, Sin... OMIM:251255
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy OMIM:616192
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Pachygyria, Gray matter heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Agyri... OMIM:615411
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Seckel Syndrome 1
Enamel hypoplasia, Cryptorchidism, Dental crowding, Pes planus, Sandal gap, Downslanted palpebral... OMIM:210600
Lissencephaly 4
Cerebellar hypoplasia, Simplified gyral pattern, Microcephaly, Agenesis of corpus callosum, Lisse... OMIM:614019
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Bulging epiphyses, Metaphyseal irregularity, Bone pain, Bowing of the legs, Th... OMIM:264700
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cortical dyspla... OMIM:615763
Dent Disease 1
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Chron... OMIM:300009
Robin Sequence-Oligodactyly Syndrome
Abnormal form of the vertebral bodies, Micrognathia, Abnormality of the dentition, Abnormality of... ORPHA:3104
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bone pain, Bowing ... OMIM:277440
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Enamel hypoplasia, Oligodontia, Epicanthus, Abnormality of th... ORPHA:557003
Orofaciodigital Syndrome Iv
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Cerebral atro... OMIM:258860
X-Linked Intellectual Disability, Siderius Type
Oral cleft, Preaxial hand polydactyly, Large hands, Cleft upper lip ORPHA:85287
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking of vertebral bodi... OMIM:231070
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Sh... OMIM:601438
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Retrognathia... OMIM:249710
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Bone pain, Increased bone mineral density, Rickets of the lower limbs, Pseudo-f... ORPHA:289176
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Abnormality of the ribs, Ambiguous genitalia, Short neck, Abnormality of epiphysis... ORPHA:93267
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Radial bowing, Joint laxity, Wide anterior fontanel, Ext... OMIM:610915
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Metaphyseal irregularity, Bone pain, Hypercalciuria, Bowing of the legs, Thin ... OMIM:241530
Masa Syndrome
Hydrocephalus, Ventriculomegaly, Pes cavus, Talipes equinovarus, Adducted thumb, Microcephaly, Ag... OMIM:303350
Campomelic Dysplasia
Scoliosis, Poorly ossified cervical vertebrae, Small abnormally formed scapulae, Micrognathia, Sh... ORPHA:140
Distal Monosomy 10P
Cryptorchidism, Short neck, Abnormality of the elbow, Non-midline cleft lip, Bilateral single tra... ORPHA:1580
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Frontal Encephalocele
Spina bifida, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Cerebral calcification, H... ORPHA:1931
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Craniotelencephalic Dysplasia
Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve hypoplasia, Frontal... OMIM:218670
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of corpus... ORPHA:171703
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Thin vermilion border, Cryptorchidism, Narrow mouth, Frontal cortical atrophy... OMIM:618766
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Optic disc coloboma, Pes planus, Slender long bon... ORPHA:536471
Kbg Syndrome
Scoliosis, Cryptorchidism, Oligodontia, Underdeveloped nasal alae, Thoracic kyphosis, Persistent ... ORPHA:2332
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Elbow dislocation, Abnormality of epiphysis morph... ORPHA:2631
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Ventriculomegaly, Abnormality of the dentition, Dyspla... ORPHA:500166
Lissencephaly 6 With Microcephaly
Almond-shaped palpebral fissure, Pachygyria, Periventricular heterotopia, Hypoplasia of the corpu... OMIM:616212
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Absent fingernail, Short distal phalanx... ORPHA:140908
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Fibular bowing, Metaphyseal irregularity, Rickets, ... OMIM:600081
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Broad toe, Downturned corners of mouth, Hypoplasia of the corpus callosum, Ventriculomegaly, Unus... ORPHA:262767
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Mesomelic short stature, Madelung deformity, Short tibia, Ulnar bow... OMIM:127350
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Broad nasal tip, Pes planus, Camptoda... OMIM:311450
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Polyhydramnios, Finger syndactyly, Hypoplasia of t... ORPHA:2256
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Long philtrum, Limited elbow flexion/extension... OMIM:164745
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Conductive hearing impairme... ORPHA:246
Acromicric Dysplasia
Long philtrum, Short phalanx of finger, Narrow mouth, Deep philtrum, Cone-shaped epiphysis, Short... OMIM:102370
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Primary adrenal insufficiency, Ence... ORPHA:1590
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo... ORPHA:2616
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Scoliosis, Bifid distal phalanx of toe, Thin vermilion border, Sparse eyebrow, Underdeveloped nas... OMIM:618419
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Abnormality of the pinna, Hypoplasia of the ulna, Neonatal death, Syndactyly, Microgna... OMIM:228940
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Rhyns Syndrome
Radial bowing, Nephronophthisis, Renal insufficiency, Anterior hypopituitarism, Pituitary hypothy... OMIM:602152
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Wormian bones, Hydrops fetalis, Decreased fibular diameter, Multiple prenatal fra... OMIM:616897
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Talipes, Finger ... ORPHA:1908
Holoprosencephaly
Scoliosis, Cryptorchidism, Abnormality of the antihelix, Aplasia/Hypoplasia of the cerebellum, Br... ORPHA:2162
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Stippled calcification proximal humeral epiphyses, Rhizomelia, Irregular vertebral end... OMIM:222765
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Disproportionate short-limb sho... OMIM:114290
Holzgreve Syndrome
Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Wt Limb-Blood Syndrome
Irregular hyperpigmentation, Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint ... OMIM:194350
Meckel Syndrome 13
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Gray matter hete... OMIM:615287
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Joubert Syndrome 30
Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dandy-Walker malformation, Superio... OMIM:617622
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Short philtrum, Absent forearm, Overlapping toe, Narrow mouth,... OMIM:201170
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Hand polydactyly, Hydrocephalus, Abnormality of the hypothalamus-pituitary... ORPHA:220497
Meier-Gorlin Syndrome 7
Scoliosis, Cryptorchidism, Craniosynostosis, Joint laxity, Narrow mouth, Choanal atresia, Bowing ... OMIM:617063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral cortical atrophy, Cerebellar atroph... OMIM:617862
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Postaxial polydactyly, Hamartoma of tongue, Horizontal ribs, Short digit,... OMIM:613091
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Micrognathia, Short neck, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Oral cleft, High palate, ... ORPHA:958
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the elbow, Abnormality of the metacarpal bones, Oral cleft, Short thumb... ORPHA:2319
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Cryptorchidism, Thin vermilion border, Short femur, Narrow mouth, Hypoplasia of the ulna, Aplasia... OMIM:612447
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Charge Syndrome
Scoliosis, Cryptorchidism, Coloboma, Choanal atresia, Patent ductus arteriosus, Omphalocele, Hemi... OMIM:214800
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Hypoplasia of the brainstem, Absent septum pellucidum, Hypoplasia of the corpus callosum, Upslant... OMIM:618492
Isolated Klippel-Feil Syndrome
Scoliosis, Spina bifida, Short neck, Abnormality of the vertebral column, Cervical C2/C3 vertebra... ORPHA:2345
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ventriculomegaly, Abnormality of neuronal migration, Abnormal corpus callosum morphology, Cortica... OMIM:618709
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Finger syndactyly, Split hand, Non-midline c... ORPHA:1406
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Irregular dentition, Cleft lower lip, Cleft upper lip, Median cleft lip ORPHA:401942
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Cardiospondylocarpofacial Syndrome
Scoliosis, Tarsal synostosis, Joint laxity, Pseudoepiphyses, Vesicoureteral reflux, Decreased tes... OMIM:157800
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Lissencephaly, X-Linked, 1
Pachygyria, Gray matter heterotopia, Agyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Discrete 2 to 5-mm hy... OMIM:131960
Eiken Syndrome
Short phalanx of finger, Metaphyseal irregularity, Thin bony cortex, Delayed epiphyseal ossificat... ORPHA:79106
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Disproportionate short-limb short stature, Madelung deformity, Limited pronation/s... DECIPHER:58
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Subependymal Nodular Heterotopia
Gray matter heterotopia, Nasofrontal encephalocele, Abnormality of neuronal migration, Meningocel... ORPHA:101030
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Accelerated skeletal maturation, Cryptorchidism, Epiphyseal stippling, Short metatarsa... OMIM:101800
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Heterochromia iridis, Blepharophimosis, Premature gray... OMIM:148820
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Narrow mouth, Conductive hearing impairment, R... OMIM:602471
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Ventriculomegaly, Brain atrophy, Small cerebral cortex, Abnormal cerebral morphology, Abnormal ne... ORPHA:329228
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Spinal dysraphism, Abnormality of the metaphysis, Sho... ORPHA:175
Koolen-De Vries Syndrome Due To A Point Mutation
Pear-shaped nose, Joint hypermobility, Scoliosis, Craniosynostosis, Cryptorchidism, Bulbous nose,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Pear-shaped nose, Joint hypermobility, Scoliosis, Craniosynostosis, Cryptorchidism, Bulbous nose,... ORPHA:363958
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly, Long eyelashes OMIM:227210
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Wide nasal bridge, Anal atresi... OMIM:309620
Trisomy 1Q
Polyhydramnios, Cryptorchidism, Hydrops fetalis, Scrotal hypoplasia, Patent ductus arteriosus, Om... ORPHA:261344
Joubert Syndrome 10
Molar tooth sign on MRI, Cerebellar vermis hypoplasia OMIM:300804
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Long philtrum, Humeroradial synostosis, Rocker bottom foot, Abnormal renal morphology, Lambdoidal... OMIM:207410
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Sheldon-Hall Syndrome
Overlapping fingers, Scoliosis, Tarsal synostosis, Short neck, Webbed neck, Adducted thumb, Wide ... ORPHA:1147
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Highly arched eyebrow, Micropenis, Preaxial polydactyly, Unilateral renal ag... OMIM:618142
Baller-Gerold Syndrome
Scoliosis, Lambdoidal craniosynostosis, Narrow mouth, Underdeveloped nasal alae, Aphalangy of the... OMIM:218600
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Nephronophthisis, Short phalanx of finger, Flared iliac wing, Dea... OMIM:184260
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Ulnar bowing, Fibular hypoplasia, Renal insuf... OMIM:113470
3P25.3 Microdeletion Syndrome
Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Postaxial polydactyly, D... ORPHA:435638
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Increased bone mineral density, Abnormality of the ... ORPHA:628
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Ankyloble... OMIM:263650
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Cone-shaped epiphyses of the toes, Carpal bone... OMIM:600593
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Warburg Micro Syndrome 1
Cryptorchidism, Thin vermilion border, Narrow mouth, Overlapping toe, Enlarged sylvian cistern, M... OMIM:600118
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Short femur, Absent septum pellucidum, Holoprosencephaly, Foot oligodacty... OMIM:601357
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Hemivertebrae, M... OMIM:146510
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Isolated Dandy-Walker Malformation
Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cleft palate ORPHA:217
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet... OMIM:256050
Frontometaphyseal Dysplasia 1
Scoliosis, Hydroureter, Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexi... OMIM:305620
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Syndactyly, Proximal radio-ulnar synostosis, Hip dislocation, Clinod... OMIM:605432
Mosaic Trisomy 1
Polyhydramnios, Omphalocele, Increased nuchal translucency, Long toe, Congenital diaphragmatic he... ORPHA:1692
Inverted Duplicated Chromosome 15 Syndrome
Joint hypermobility, Short philtrum, Talipes equinovarus, Cryptorchidism, Drooling, Growth delay,... ORPHA:3306
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Pachygyria, Gray matter heterotopia, Cortical dysplasia, Agyria, Microcephaly, Subcortical band h... OMIM:615412
Gordon Syndrome
Scoliosis, Camptodactyly of finger, Cryptorchidism, Talipes, Finger syndactyly, Short stature, Cl... ORPHA:376
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Hand polydactyly, Hydrocephalus, Abnormality of the hypothalamus-pituitary... ORPHA:220493
Congenital Muscular Dystrophy With Cerebellar Involvement
Diffuse white matter abnormalities, Macroglossia, Hypoplasia of the brainstem, Agenesis of corpus... ORPHA:370959
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Br... OMIM:617866
Trisomy 18
Cryptorchidism, Choanal atresia, Omphalocele, Bilateral single transverse palmar creases, Anencep... ORPHA:3380
Joubert Syndrome
Highly arched eyebrow, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Abnormality o... ORPHA:475
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Abnormal tracheobronchial morphology, Cryptorchidism, Sagittal craniosynostosis OMIM:218450
Distal Trisomy 15Q
Camptodactyly of finger, Long philtrum, Cryptorchidism, Downturned corners of mouth, Micrognathia... ORPHA:1707
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Congenital Disorder Of Glycosylation, Type Ig
Polyhydramnios, Hypoplasia of the radius, Short femur, Short philtrum, Rhizomelia, Abnormality of... OMIM:607143
Mental Retardation, Autosomal Dominant 22
Epicanthus, Smooth philtrum, Thin upper lip vermilion, Microcephaly, Micrognathia, Agenesis of co... OMIM:612337
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Madelung deformity, Bo... ORPHA:2632
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Triphalangeal thumb, Postaxial hand polydactyly, Preaxial foot polydactyly ORPHA:2091
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Type II lissencephaly, Ventriculomegaly, Oral cleft, Occipital encephalocele, Hydrocephalus ORPHA:324416
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
15Q24 Microdeletion Syndrome
Scoliosis, Cryptorchidism, Joint laxity, Narrow mouth, Postnatal growth retardation, Broad eyebro... ORPHA:94065
Braddock Syndrome
Scoliosis, Preaxial hand polydactyly, Pulmonary fibrosis, Micrognathia, Unilateral renal agenesis... ORPHA:52047
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Broad long bones, Recurrent fractures, Absent ossification of calva... OMIM:166210
Stankiewicz-Isidor Syndrome
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Micropenis, 2-3 toe syndactyly, Pa... OMIM:617516
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft upper lip, Cleft palate OMIM:614402
Aarskog-Scott Syndrome
Cryptorchidism, Pes planus, Oral cleft, Short neck, Broad foot, Hypoplasia of the maxilla, Long p... ORPHA:915
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... DECIPHER:46
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Pes planus, Ovoid vertebral b... OMIM:271640
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebellar hypo... OMIM:616486
Gillessen-Kaesbach-Nishimura Syndrome
Polyhydramnios, Underdeveloped nasal alae, Omphalocele, Ulnar deviation of the hand, Bicornuate u... OMIM:263210
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Encephalocele, Cleft upper lip, Cleft palate, Talipes eq... OMIM:613885
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis Dissecans, Genu varum OMIM:259200
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Keratoconus Posticus Circumscriptus
Growth delay, Recurrent urinary tract infections, Cleft palate, Clinodactyly of the 5th finger, V... OMIM:244600
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Overlapping toe, Cerebellar hypoplasia, Periventricular nodular heterotopia, Microcephaly, Optic ... OMIM:618572
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Microcephaly 17, Primary, Autosomal Recessive
Hypoplasia of the brainstem, Ventriculomegaly, Cerebellar hypoplasia, Thick vermilion border, Sim... OMIM:617090
Monosomy 5P
Scoliosis, Finger syndactyly, Microretrognathia, Joint hyperflexibility, Recurrent fractures, Wid... ORPHA:281
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Platyspondyly, Metaphyseal irregularity, Carpal bone hypoplasi... OMIM:618395
Metaphyseal Acroscyphodysplasia
Scoliosis, Accelerated skeletal maturation, Abnormality of femur morphology, Bowing of the long b... ORPHA:1240
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Radial dysplasia, Mesomelic arm shortening, Hypoplasia of... OMIM:191440
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... OMIM:611702
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Gray matter heterotopia, Hypoplas... OMIM:614643
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Orofaciodigital Syndrome Xiv
Cryptorchidism, Microretrognathia, Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Preax... OMIM:615948
Nasodigitoacoustic syndrome