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
Triphalangeal thumb, Polydactyly 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
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Toes, Space Between First And Second
Sandal gap OMIM:189230
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
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Polydactyly, Preaxial Ii
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... OMIM:174500
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
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
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... OMIM:112800
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
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
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
Laurin-Sandrow Syndrome
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... OMIM:135750
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Synpolydactyly 1
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... OMIM:186000
Craniofacial Conodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hydrocephalus ORPHA:85168
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair OMIM:126070
Hallux Varus And Preaxial Polysyndactyly
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly OMIM:234280
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 distal phalanx of the thumb, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the midd... OMIM:616849
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Hallux Varus-Preaxial Polysyndactyly Syndrome
Clinodactyly of the 5th finger, Sandal gap ORPHA:2110
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Syndactyly Type 1
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly ORPHA:93402
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... ORPHA:241
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615938
Acromesomelic Dysplasia 2A
Stillbirth, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia... OMIM:200700
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Syndactyly, Type Iii
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly OMIM:186100
Loose Anagen Hair Syndrome
Loose anagen hair, Fair hair, Sparse hair OMIM:600628
Tibial Hemimelia
Absent tibia OMIM:275220
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Isolated Congenital Onychodysplasia
2-3 toe syndactyly, Ingrown nail, Small nail, Toenail dysplasia, Slender distal phalanx of finger... ORPHA:79144
Multiple Epiphyseal Dysplasia Type 4
High palate, Short metacarpal, Cleft palate, Accelerated skeletal maturation, Arthralgia of the h... ORPHA:93307
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... ORPHA:1891
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Dandy-Walker malformation ORPHA:1566
Sugarman Brachydactyly
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... OMIM:272150
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Banki Syndrome
Radial deviation of finger, Clinodactyly OMIM:109300
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia, Hypopigmentation of the skin, Sparse body hair, Onychogryposis of toenails, Dystrophic ... OMIM:617294
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... OMIM:186350
Hydrocephalus With Cerebellar Agenesis
Hydrocephalus OMIM:307010
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Acromelic Frontonasal Dysostosis
Cleft upper lip, U-Shaped upper lip vermilion, Gray matter heterotopia, Talipes equinovarus, Cryp... OMIM:603671
Curved Nail Of Fourth Toe
Short distal phalanx of finger, Hyperconvex fingernails, Congenital curved nail of fourth toe OMIM:219070
Acrocephalopolysyndactyly Type Iv
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... OMIM:201020
Pontocerebellar Hypoplasia, Type 12
Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:618266
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... OMIM:113100
Leri-Weill Dyschondrosteosis
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... OMIM:127300
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Short ribs, Micro... OMIM:617866
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair OMIM:606952
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Cleft palate, Horizontal sac... OMIM:108721
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature... ORPHA:93314
Symphalangism With Multiple Anomalies Of Hands And Feet
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... OMIM:185750
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Abnormal aryepiglottic fold... OMIM:268305
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Cleft palate, Femoral bowing, Congenital hip dislocation, Pla... OMIM:304120
Albinism-Deafness Syndrome
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormality of the thyroid gland, Abnor... ORPHA:3344
Sternum, Premature Obliteration Of Sutures Of
Premature sternal synostosis, Micrognathia, Short sternum OMIM:184800
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo... ORPHA:2779
Polydactyly, Postaxial, Type A5
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Familial Digital Arthropathy-Brachydactyly
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Abnormality of the hand, Short tibia, Syndactyly, Foot oligodac... OMIM:246570
Split-Hand/Foot Malformation 2
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly OMIM:313350
Digital Arthropathy-Brachydactyly, Familial
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... OMIM:606835
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... OMIM:112700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Brachydactyly, Type A1, C
Short distal phalanx of finger, Bilateral talipes equinovarus, Short middle phalanx of the 2nd fi... OMIM:615072
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Symphalangism With Multiple Anomalies Of Hands And Feet
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Absent distal... ORPHA:3246
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Brachydactyly Type A2
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... ORPHA:93396
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Flat capital ... OMIM:601560
Acromesomelic Dysplasia 4
Hypertrichosis, Broad phalanx, Accelerated skeletal maturation, Platyspondyly, Broad finger, Genu... OMIM:619636
Brachydactyly-Syndactyly Syndrome
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... OMIM:610713
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Dental malocclusion, Nar... OMIM:608940
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Relative macrocephaly, Shortening of all distal phalanges of the fingers,... OMIM:619135
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Albinism-Deafness Syndrome
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... ORPHA:998
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Biemond Syndrome Ii
Hydrocephalus, Preaxial hand polydactyly OMIM:210350
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Brachydactyly, Type D
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly OMIM:113200
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... ORPHA:1856
Otospondylomegaepiphyseal Dysplasia
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared f... ORPHA:1427
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... OMIM:145250
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Gray matter heterotopia, Cleft palate, Orbital cyst, Congenital hip disloc... OMIM:164180
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Pectus carinatum, Radioulnar synostosis, Abnormal ... ORPHA:3268
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... OMIM:118651
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... OMIM:250215
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia... ORPHA:3035
Disorganization, Mouse, Homolog Of
Cleft upper lip, Cleft palate, Limb duplication, Hand polydactyly, Hip dislocation OMIM:223200
Microcephaly 16, Primary, Autosomal Recessive
Adducted thumb, Micrognathia, Microcephaly, Telecanthus, Knee flexion contracture, Open mouth, Si... OMIM:616681
Brachydactyly, Type A1, B
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... OMIM:607004
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Cleft palate, Glo... ORPHA:3104
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Anal atresia, Scoliosis, Hyperlordosis, Abnormal epiphysis morph... ORPHA:2310
Brachydactyly, Type A1
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... OMIM:112500
Heyn-Sproul-Jackson Syndrome
Broad metacarpals, Broad phalanx, Sparse hair, 11 pairs of ribs, Short phalanx of finger, Short m... OMIM:618724
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis ORPHA:71289
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Chudley-Mccullough Syndrome
Hydrocephalus, Gray matter heterotopia, Dysplastic corpus callosum, Cerebellar hypoplasia, Polymi... OMIM:604213
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Frontonasal Dysplasia 1
Median cleft palate, Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand ... OMIM:136760
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Renal agenesis, Abnormality of... ORPHA:294975
Shox-Related Short Stature
Forearm undergrowth, High palate, Tibial bowing, Short stature, Micrognathia, Short neck, Scolios... ORPHA:314795
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... OMIM:218530
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Delayed skeletal ma... OMIM:210720
Faciocardiomelic Dysplasia, Lethal
Narrow mouth, Hypoplasia of the radius, Micrognathia, Retrognathia, Short 5th finger, Neonatal de... OMIM:227270
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Micropenis, Hemiverteb... OMIM:113000
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Cleft palate, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing,... OMIM:108720
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Short neck, Clitoral hypoplasia, Hy... OMIM:609945
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Mesomelic arm shortening, Short statu... OMIM:171480
Acromesomelic Dysplasia 1
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... OMIM:602875
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, Retrognathia, Anonychia, Single interphalangeal crease... OMIM:251255
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe OMIM:176305
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... OMIM:168400
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Weismann-Netter Syndrome
Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow... OMIM:112350
Wahab Syndrome
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... OMIM:615170
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Hypertension And Brachydactyly Syndrome
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal OMIM:112410
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Ectrodactyly-Polydactyly Syndrome
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... ORPHA:1892
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Coloboma Of Macula-Brachydactyly Type B Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Fingernail dysplas... ORPHA:1471
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... OMIM:607323
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Unilateral polymicrogyria... OMIM:610031
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
High palate, Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Short neck... ORPHA:93315
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Brachydactyly Type A7
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... ORPHA:93397
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:617562
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... OMIM:311895
Autosomal Recessive Spastic Paraplegia Type 32
Abnormal pons morphology, Cerebellar cortical atrophy ORPHA:171622
Band Heterotopia
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Ventriculomegaly, Subcortical band hetero... OMIM:600348
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Anal atresia, Type II diabetes mellitus, Short stature, Abnormal sacrum morphology, Brachydactyly... ORPHA:1436
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran... ORPHA:1972
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
High palate, Large basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Downslanted ... ORPHA:300570
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Neonatal ... OMIM:601376
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... OMIM:307800
Metaphyseal Dysplasia, Spahr Type
Metaphyseal dysplasia, Metaphyseal sclerosis, Metaphyseal widening, Short lower limbs, Genu valgu... OMIM:250400
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... OMIM:611263
Kniest Dysplasia
Enlarged joints, Cleft palate, Platyspondyly, Short neck, Disproportionate short-trunk short stat... OMIM:156550
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Vertebral segmentation defect, Chronic kidney disease, Short stature, Unilateral renal agenesis, ... OMIM:617661
Mesomelic Limb Shortening And Bowing
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... OMIM:249710
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hirsutism, Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, ... ORPHA:357175
Van Bogaert-Hozay Syndrome
Abnormal pinna morphology, Tooth malposition, Micrognathia, Osteolytic defects of the phalanges o... OMIM:277150
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Ectrodactyly-Polydactyly
Postaxial hand polydactyly, Split hand, Split foot OMIM:225290
Acromelic Frontonasal Dysplasia
Wide mouth, Hypoplasia of the olfactory bulb, Talipes equinovarus, Aplasia/Hypoplasia of the tibi... ORPHA:1827
Intellectual Developmental Disorder, Autosomal Recessive 35
Hirsutism, Malar flattening, Microtia, Everted lower lip vermilion, Micrognathia, Long philtrum, ... OMIM:615162
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
High palate, Clinodactyly of the 5th finger, Upslanted palpebral fissure, Broad eyebrow, Hypoplas... OMIM:612948
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Short neck, Rh... OMIM:223800
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Temporomandibular joint ankylosis, Ul... OMIM:164900
Lissencephaly 3
Gray matter heterotopia, Microcephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Agyria,... OMIM:611603
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Brachydactyly, Type A2
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... OMIM:112600
Robinow Syndrome, Autosomal Recessive 1
Macrocephaly, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the dis... OMIM:268310
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Cleidorhizomelic Syndrome
Abnormal clavicle morphology, Clinodactyly of the 5th finger, Brachydactyly, Bilateral single tra... ORPHA:1453
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ... OMIM:259420
Charge Syndrome
Webbed neck, Labial hypoplasia, Aplasia of the semicircular canal, External genital hypoplasia, H... OMIM:214800
Gombo Syndrome
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia OMIM:233270
Duane Retraction Syndrome
Hypoplasia of the radius, Short neck, Microcornea, Hypoplastic iris stroma, Talipes equinovarus, ... ORPHA:233
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal pinna morphology, Hydrocephalus, Depressed nasal bri... ORPHA:90652
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Abnormality of the hand, Agenesis of corpus callosum, Abnormality... ORPHA:521308
Peripheral Dysostosis
Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Brachydactyly-Arterial Hypertension Syndrome
Brachydactyly, Short phalanx of finger, Short metacarpal ORPHA:1276
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Depressed nasa... ORPHA:536471
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Microphthalmia With Limb Anomalies
Hydrocephalus, Depressed nasal bridge, True anophthalmia, Abnormality of the upper limb, Optic at... ORPHA:1106
Hypophosphatemic Rickets, X-Linked Recessive
Femoral bowing, Thin bony cortex, Proximal tubulopathy, Renal phosphate wasting, Metaphyseal irre... OMIM:300554
Split-Hand/Foot Malformation 4
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... OMIM:605289
Microphthalmia With Limb Anomalies
High palate, Growth delay, Tibial bowing, Talipes equinovarus, Postnatal growth retardation, Hand... OMIM:206920
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Macrocephaly, Childhood onset ... ORPHA:429
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Hypoplasia of the pons, Fusion of the left and right thalami, Abnormality of the a... OMIM:617542
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Broad jaw, Bowing of the lo... ORPHA:53697
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Acrodysostosis
Spinal canal stenosis, Short toe, Abnormal morphology of ulna, Open bite, Hypoplasia of the radiu... ORPHA:950
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating androgen concentration, Craniosynostosis, Radioulnar synostosis, Polycystic... ORPHA:95699
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
High palate, Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital ... OMIM:245160
Tietz Albinism-Deafness Syndrome
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation OMIM:103500
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Bulbous nose, Abnormality of the humerus, Micromelia, Abnormalit... ORPHA:2496
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral segmentation defect, Talipes equinovarus, Unilateral renal agenesis, Bilateral renal ag... OMIM:618845
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Duplication involving bones of the feet, Scoliosis, Abnormality of the lower limb OMIM:246000
Carpenter Syndrome 1
Abnormal pinna morphology, External genital hypoplasia, Aplasia/Hypoplasia of the middle phalange... OMIM:201000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly, Hydrocephalus, Ventriculomegaly OMIM:615937
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Craniotelencephalic Dysplasia
Hydrocephalus, Microcephaly, Agenesis of corpus callosum, Arrhinencephaly, Cerebellar hypoplasia,... ORPHA:1528
Phocomelia, Schinzel Type
Cleft palate, Hypoplasia of the radius, Tracheoesophageal fistula, Short neck, Micromelia, Aplasi... ORPHA:2879
Hydrocephalus With Associated Malformations
Tibial bowing, Intestinal malrotation, Micrognathia, Short lower limbs, Abnormal foot morphology,... OMIM:236640
Brachydactyly Type C
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... ORPHA:93384
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Optic... ORPHA:363417
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Osteopenia, Platyspondyly, Decreased calvarial ossification, Disproportionate sho... OMIM:610915
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Acrofacial Dysostosis 1, Nager Type
Hydrocephalus, Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Downs... OMIM:154400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... OMIM:264700
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Cleft upper lip, Cleft palate, Preaxial hand polydactyly OMIM:601420
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... OMIM:607624
Pallister-Hall-Like Syndrome
Hydrocephalus, Cleft palate, Hypothalamic hamartoma, Short ribs, Micrognathia, Micromelia, Anteri... OMIM:241800
Ventriculomegaly And Arthrogryposis
Talipes equinovarus, Micrognathia, Cerebellar hypoplasia, Ulnar deviation of the wrist, Ventricul... OMIM:619501
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 3-4 finger syndactyly, Cutaneous syndactyly, 2-3 toe syndactyly OMIM:185900
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
High palate, Sparse eyebrow, Short neck, Hypoplasia of the capital femoral epiphysis, Delayed eru... OMIM:143095
Masa Syndrome
Clinodactyly of the 5th finger, Camptodactyly of finger, Ventriculomegaly, Hand clenching, Agenes... ORPHA:2466
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Frontal polymicrogyria, Liss... OMIM:614039
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Hypoplastic toenails, Split foot, Camptodactyly of finger, Anonyc... ORPHA:1113
Orofaciodigital Syndrome Iii
Pectus excavatum, Short sternum, Supernumerary tooth, Hyperconvex nail, Postaxial hand polydactyl... OMIM:258850
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Limitation of joint mobility, Cleft palate, Sh... OMIM:211350
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Femoral bowing, Thin bony cortex, Renal phosphate wasting, Metaphyseal irregularity, Renal tubula... OMIM:241530
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Spindle-shaped finger, Cerebral atrophy, Triangular mouth, Cutan... ORPHA:166024
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly OMIM:616890
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum, Rhizomelia OMIM:166990
Prenatal Bowing
Bowing of the long bones OMIM:264050
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Nephropathy, Hematuria, Aplasia/Hypoplasia of the radiu... ORPHA:1765
Short Rib-Polydactyly Syndrome
Cleft palate, Nephronophthisis, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intr... ORPHA:1505
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Widely patent fontanelles and sutures, Delayed epiphysea... OMIM:600081
Fanconi Anemia, Complementation Group O
Anal atresia, Miscarriage, Absent thumb, Short stature, Hypoplasia of the radius, Small thenar em... OMIM:613390
Oculocerebrodental Syndrome
Metaphyseal dysplasia, Dysplastic corpus callosum, Focal white matter lesions, Abnormality of the... ORPHA:557003
Dent Disease 1
Femoral bowing, Glycosuria, Thin bony cortex, Proximal tubulopathy, Stage 5 chronic kidney diseas... OMIM:300009
Sub-Cortical Nodular Heterotopia
Abnormal basal ganglia morphology, Agenesis of corpus callosum, Polymicrogyria, Hypoplasia of the... ORPHA:101029
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormalit... ORPHA:1350
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Sclerotic vertebral endplat... ORPHA:289176
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand polydactyly, Telec... ORPHA:380
Acromicric Dysplasia
Fifth metacarpal with ulnar notch, Narrow mouth, Short metacarpal, Cone-shaped epiphysis, Long ph... OMIM:102370
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Large hands, Preaxial hand polydactyly, Oral cleft ORPHA:85287
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... OMIM:608716
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S... ORPHA:2878
Corpus Callosum, Agenesis Of
Joint contracture of the hand, Microcephaly, Agenesis of corpus callosum, Camptodactyly OMIM:217990
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Micrognathia, Platyspondyly, Short neck, Agenesis of corpus callosum, Ventricular... ORPHA:93267
Lissencephaly 5
Leukoencephalopathy, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the corpus callosum, T... OMIM:615191
Marshall Syndrome
Clinodactyly of the 5th finger, Radial bowing, Macrodontia of permanent maxillary central incisor... OMIM:154780
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Supernumerary nipple, Malar flattening, Microtia, Hypoplasia of th... ORPHA:246
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Abnormality of the ureter, Optic atroph... ORPHA:3378
Brachydactyly Type B
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... ORPHA:93383
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Cariou... OMIM:277440
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect OMIM:619165
Dyschondrosteosis And Nephritis
Radial bowing, Nephritis, Short tibia, Madelung deformity, Ulnar bowing, Mesomelic short stature,... OMIM:127350
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Midshaft hypospadias, Renal hypoplasia/aplasia, Short stature, Microgn... ORPHA:2863
Rhyns Syndrome
Chronic kidney disease, Radial bowing, Decreased response to growth hormone stimulation test, Nep... OMIM:602152
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Cenani-Lenz Syndrome
Hypoplasia of the radius, Short philtrum, Micromelia, Radioulnar synostosis, Hypoplasia of the ul... ORPHA:3258
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Cleft palate, Abnormal vertebral ... ORPHA:90650
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar hypoplasia, Hypoplasia of the brainstem OMIM:615771
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Long philtrum, Rhizomelic arm shorte... OMIM:164745
Orofaciodigital Syndrome Viii
High palate, Cleft palate, Short stature, Short tibia, Hypoplasia of the epiglottis, Syndactyly, ... OMIM:300484
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Macrocephaly, Cleft palate, Femoral bowing, Short neck, 11 pa... ORPHA:140
Wt Limb-Blood Syndrome
Clinodactyly of the 5th finger, Irregular hyperpigmentation, Absent thumb, Retrognathia, Microgna... OMIM:194350
3M Syndrome
Congenital hip dislocation, Micromelia, Delayed eruption of teeth, Short neck, Hypoplasia of the ... ORPHA:2616
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... ORPHA:75508
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Protruding ear, Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges... ORPHA:2256
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, High palate, Cerebral cortical atrophy, Microcephaly, Long philtrum, C... OMIM:619072
Brachydactyly Type B2
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... ORPHA:140908
Distal Monosomy 10P
Ectopic anus, Anal atresia, Joint stiffness, Clinodactyly of the 5th finger, Hypoplasia of penis,... ORPHA:1580
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Lissencephaly 4
Cerebellar hypoplasia, Colpocephaly, Agenesis of corpus callosum OMIM:614019
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso... OMIM:228940
Masa Syndrome
Hydrocephalus, Talipes equinovarus, Adducted thumb, Pes cavus, Microcephaly, Ventriculomegaly, Ag... OMIM:303350
Acrofacial Dysostosis Syndrome Of Rodriguez
High palate, Overlapping toe, Wide anterior fontanel, Narrow mouth, Talipes equinovarus, Microgna... OMIM:201170
Chromosome 2Q31.1 Duplication Syndrome
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb OMIM:613681
Verheij Syndrome
Growth delay, Short stature, Renal agenesis, Hemivertebrae, Microcephaly, Short neck, Scoliosis, ... OMIM:615583
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... OMIM:193510
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Hypermelanotic macule, Alopecia, M... ORPHA:79397
Joubert Syndrome 30
Superior cerebellar dysplasia, Ventriculomegaly, Cerebellar atrophy, Molar tooth sign on MRI, Dan... OMIM:617622
Hartsfield Syndrome
Cleft palate, Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Telecanthus, Non-... ORPHA:2117
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair OMIM:227010
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
Long eyelashes, Partial duplication of eyebrows, 2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Frontal encephalocele, Agenesis of corpus callosum, Arrhinencephaly, Cere... OMIM:218670
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormality of the dentition, Abnormal... ORPHA:1837
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Anal atresia, Ectopic anus, Renal hypoplasia/aplasia, Cleft pala... ORPHA:2345
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Cleft palate, Abnormal hip bone morphology, Retrognathia, Camptoda... ORPHA:2631
Congenital Muscular Dystrophy With Cerebellar Involvement
Decreased thalamic volume, Hydrocephalus, Gray matter heterotopia, Macroglossia, Optic nerve hypo... ORPHA:370959
Van Den Ende-Gupta Syndrome
High palate, Cleft palate, Craniosynostosis, Femoral bowing, Narrow foot, Tapered finger, Glenoid... OMIM:600920
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Disproportionate short-limb short stature, Radial bowing, Limited pronation/supination of forearm... DECIPHER:58
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Cleft palate, Split foot, Median cleft lip, Split hand, Cutaneous finger synd... DECIPHER:46
Acro-Renal-Mandibular Syndrome
High palate, Aplasia/Hypoplasia of the tongue, Hypoplasia of the radius, Hemivertebrae, Tracheoes... ORPHA:958
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, High palate, Micrognathia, Short humerus, Scoliosis, Rhizomelia, S... OMIM:222765
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydrocephalus, Gray matter heterotopia, Anencephaly, Cortical dysplasia, Cerebellar hypoplasia, O... OMIM:615287
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Frontal cortical atrophy, Thin vermilion border, Micrognathia, Parietal cortical at... OMIM:618766
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Trisomy 1Q
Hydrocephalus, Depressed nasal bridge, Long foot, Downslanted palpebral fissures, Ambiguous genit... ORPHA:261344
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Downslanted palpebral fissures, Short nose, Sandal gap, Delay... OMIM:311300
Waardenburg Syndrome, Type 2B
White forelock, Premature graying of hair, Heterochromia iridis OMIM:600193
Pallister W Syndrome
Radial bowing, Agenesis of central incisor, Joint contracture of the hand, Frontal upsweep of hai... OMIM:311450
Lissencephaly 6 With Microcephaly
Wide mouth, Periventricular heterotopia, Microcephaly, Polymicrogyria, Tapered finger, Partial ag... OMIM:616212
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Convex nasal ridge, Short palpebral fissure, Craniosyno... OMIM:251230
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly ORPHA:2091
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Craniosynostosis, Sagittal craniosynostosis, Anal atresia, Thin eyebro... OMIM:617063
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Anal atresia, Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short ... OMIM:309620
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... ORPHA:93409
Sheldon-Hall Syndrome
Vertebral segmentation defect, Joint stiffness, Protruding ear, Abnormal hip bone morphology, Add... ORPHA:1147
Bartsocas-Papas Syndrome 1
Corneal ulceration, Ablepharon, Ankyloblepharon, Absent thumb, Alopecia, Short neck, Alopecia tot... OMIM:263650
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... ORPHA:2162
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Limited pronation/supination of forearm, Clinodactyly of the 5th finger, Proximal ... OMIM:605432
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma OMIM:611638
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, A... ORPHA:352682
Joubert Syndrome With Renal Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Abnormality of the hypothalamus-pituitary axi... ORPHA:220497
Eiken Syndrome
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... ORPHA:79106
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
High palate, Dislocated radial head, Conductive hearing impairment, Narrow mouth, Talipes equinov... OMIM:602471
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs OMIM:138790
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Diastrophic Dysplasia
Macrocephaly, Cleft palate, Micromelia, Symphalangism affecting the phalanges of the hand, Ulnar ... ORPHA:628
Gordon Syndrome
High palate, Clinodactyly of the 5th finger, Cleft palate, Short stature, Camptodactyly of finger... ORPHA:376
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Median cleft lip, Cleft lower lip ORPHA:401942
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Kyphoscoliosis, Tibial bowing, Recurr... OMIM:231070
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur OMIM:600121
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Intrauterine growth retardation, Abnormality of finger, Severe short... ORPHA:2319
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger OMIM:140450
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Femoral-Facial Syndrome
Radioulnar synostosis, Abnormality of fibula morphology, Long penis, Short nose, Vertebral segmen... ORPHA:1988
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Delayed eruption of... OMIM:305620
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... ORPHA:52056
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... ORPHA:79433
Congenital Disorder Of Glycosylation, Type Ig
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... OMIM:607143
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... OMIM:131960
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Piebald Trait
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... OMIM:172800
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Cerebellar hypoplasia, Polymicrogyria, Primary microcephaly, Ventriculomegaly, Agenesis of corpus... ORPHA:171703
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate OMIM:614402
Partial Trisomy/Tetrasomy Of The Short Arm Of Chromosome 9
Clinodactyly of the 5th finger, Unusual dermatoglyphics, Hypoplasia of the corpus callosum, Downt... ORPHA:262767
Orofaciodigital Syndrome Type 10
Short neck, Retrognathia, Micrognathia, Long philtrum, Cleft soft palate, Short toe, Oligodactyly... ORPHA:2756
Blount Disease, Adolescent
Bowing of the legs, Osteochondritis dissecans, Genu varum OMIM:259200
Cartilage-Hair Hypoplasia
Sparse hair, Sparse eyebrow, Abnormally ossified vertebrae, Accelerated skeletal maturation, Shor... ORPHA:175
Meckel Syndrome, Type 8
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... OMIM:613885
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly OMIM:610140
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Abnormality of the hypothalamus-pituitary axi... ORPHA:220493
W Syndrome
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Broad uvula, Cubitus... ORPHA:2804
Langer Mesomelic Dysplasia
High palate, Disproportionate short-limb short stature, Severe short stature, Abnormal morphology... ORPHA:2632
Campomelic Dysplasia
Poorly ossified cervical vertebrae, High palate, Macrocephaly, Cleft palate, Short nail, Femoral ... OMIM:114290
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Platyspondyly, Micromelia, Sh... OMIM:256050
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Mosaic Trisomy 1
Abnormal pinna morphology, Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Si... ORPHA:1692
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Thin vermilion border, Short philtrum, Brachydactyly, Abnormal meta... ORPHA:1406
Baller-Gerold Syndrome
High palate, Cleft palate, Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynos... OMIM:218600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Cleft palate, Short nail, Delayed proximal femoral epiphyseal ossification, Platyspo... OMIM:271640
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Mild postnat... OMIM:101800
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Platyspondyly, Short neck, Ventricular septal defect, Short nose, Cardiomegaly, Flexi... OMIM:616897
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Aplasia/Hypoplasia of the cerebellar vermis, Abnormal rib morphology, Agenesis of ... OMIM:300864
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Intrauterine growth retardation, Postaxial polydactyly, Bilateral t... OMIM:618142
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Decreas... ORPHA:1263
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Cleft palate, Postaxial polydactyly, Anencephaly, Dilated fourth ven... OMIM:614175
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Nephronophthisis, Platyspondyly... OMIM:184260
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Distal Monosomy 13Q
Anal atresia, Renal hypoplasia/aplasia, Short stature, Abnormality of the hand, Microcephaly, Ane... ORPHA:1590
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Macrocephaly, Slender finger, Sparse hair, Cleft palate, Osteopenia, Short neck, Bro... ORPHA:251028
Pallister-Hall Syndrome
Cleft palate, Decreased circulating cortisol level, Hemivertebrae, Hypoplasia of the epiglottis, ... OMIM:146510
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Split-Hand/Foot Malformation 6
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly OMIM:225300
Monosomy 5P
High palate, Recurrent fractures, Microretrognathia, Short stature, Small hand, Microcephaly, Sho... ORPHA:281
Acrorenal Syndrome
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... ORPHA:971
Coloboma Of Macula With Type B Brachydactyly
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Septopreoptic Holoprosencephaly
Rhombencephalosynapsis, Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalo... ORPHA:280195
Subependymal Nodular Heterotopia
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Polymicrogyria, Par... ORPHA:101030
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Sparse hair, Malar flatte... OMIM:602613
Hypocalcemic Vitamin D-Dependent Rickets
Elevated circulating parathyroid hormone level, Femoral bowing, Delayed eruption of teeth, Thin b... ORPHA:289157
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormality of the dentition, Abnormal cerebral white matter morpholo... ORPHA:500166
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Flexion contracture, Coronal craniosynostosis, Femoral bowing, Arachnodac... OMIM:207410
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Platyspondyly, Scoliosis, Delayed eruption of teeth,... OMIM:265900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Orofaciodigital Syndrome Xiv
Microretrognathia, Supernumerary tooth, Cleft palate, Short ribs, Preaxial polydactyly, Micrognat... OMIM:615948
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... OMIM:617927
Waardenburg Syndrome, Type 3
Sensorineural hearing impairment, Carpal synostosis, Premature graying of hair, Joint contracture... OMIM:148820
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Overlapping toe, Narrow mouth, Cerebral atrophy, Thin vermilion borde... OMIM:600118
Keratoconus Posticus Circumscriptus
Clinodactyly of the 5th finger, Cleft palate, Abnormal vertebral segmentation and fusion, Short n... OMIM:244600
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Distal Trisomy 15Q
High palate, Anal atresia, Joint stiffness, Arachnodactyly, Micrognathia, Camptodactyly of finger... ORPHA:1707
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Short humerus, Micromelia, Abnormality of the elbow, Postaxial ha... ORPHA:2491
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Lissencephaly, X-Linked, 1
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum OMIM:300067
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... OMIM:142900
Even-Plus Syndrome
High palate, Epiphyseal dysplasia, Anal atresia, Severe short stature, Sparse hair, Vertebral cle... OMIM:616854
Braddock Syndrome
Laryngeal web, Short stature, Unilateral renal agenesis, Hemivertebrae, Micrognathia, Short neck,... ORPHA:52047
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S... OMIM:112450
Kbg Syndrome
Delayed skeletal maturation, Thick eyebrow, Cleft palate, Short stature, Cutaneous syndactyly, Sh... ORPHA:2332
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Finger syndactyly, Sparse hair, Alopecia, Camptodactyly of finger, Onychogryposis of fingernail, ... ORPHA:2251
Inverted Duplicated Chromosome 15 Syndrome
High palate, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, Precocious ... ORPHA:3306
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Hypoplasia of the ul... OMIM:612447
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Renal insufficiency, Mes... OMIM:113470
Stuve-Wiedemann Syndrome 1
Enlarged joints, Sparse hair, Femoral bowing, Short neck, Ulnar deviation of finger, Single trans... OMIM:601559
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Radially deviated wrists, Coxa vara, Short stature, Reduced arm span, Osteoarthritis, Abnormality... ORPHA:166002
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Flared metaphysis, Platysp... OMIM:156510
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Cerebral atrophy, Absent septum pellucidum, Upslanted palpebral fissure, Microcephaly, Hypoplasia... OMIM:618492
Metaphyseal Acroscyphodysplasia
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... ORPHA:1240
Orofaciodigital Syndrome Iv
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... OMIM:258860
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Short neck, Short femoral neck, Scoliosis, Biconcave ... OMIM:610319
Trisomy 18
Anencephaly, Microcornea, Abnormality of the upper limb, Ventricular septal defect, Short nose, C... ORPHA:3380
Split-Hand/Foot Malformation 1
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... OMIM:183600
Van Der Woude Syndrome 2
Cleft upper lip, Anodontia, Cleft palate OMIM:606713
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Short stature, Scoliosis, Genu varum, Short femoral neck, Hy... OMIM:184255
Dysosteosclerosis
Narrow chest, Abnormal metaphyseal trabeculation, Short sternum, Hypoplastic vertebral bodies, Sh... OMIM:224300
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Platyspondyly, Wor... OMIM:166210
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Duplication of metatarsal bones, Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe OMIM:600384
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Anonychia, Axillary and groin hyperpigmentation and hypopigmentation, Abno... ORPHA:69125
Coach Syndrome 2
Cerebellar vermis hypoplasia, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Sparse scalp hair, Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, C... OMIM:225280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hydrocephalus, Gray matter heterotopia, Adducted thumb, Pachygyria, Optic nerve hypoplasia, Cereb... OMIM:614643
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Hypochondroplasia
Childhood onset short-limb short stature, Lumbar hyperlordosis, Aplasia/hypoplasia of the extremi... OMIM:146000
Metachondromatosis</