Gene: Col2a1 MGI:88452

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type II, alpha 1
Synonyms:
Del1,  Col2a-1,  Col2a,  Col2,  M100856,  Rgsc856,  Lpk,  M100413,  Rgsc413

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 Col2a1 mutations

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

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

The table below shows human diseases associated to Col2a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Pes planus, Kyphosis, Ovoid vert... ORPHA:93315
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Abnormali... ORPHA:93316
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Czech Dysplasia
Scoliosis, Platyspondyly, Short metatarsal, Thoracic kyphosis, Flexion contracture, Narrow iliac ... OMIM:609162
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Narrow chest, ... ORPHA:93296
Legg-Calve-Perthes Disease
Avascular necrosis of the capital femoral epiphysis OMIM:150600
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Laryngotracheomalacia, Flat acetabular roof, Small epiphyses, Short femoral neck, Shor... ORPHA:94068
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Generalized j... ORPHA:85198
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent vertebral body mineralization, Horiz... OMIM:200610
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of th... ORPHA:85166
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Delayed pubic bone ossification, Genu valgum, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Laryngotracheomalacia, Abnormal vertebral morphology, Aplasia/hypoplasia involving... ORPHA:93346
Kniest Dysplasia
Platyspondyly, Enlarged joints, Short neck, Coronal cleft vertebrae, Hypoplastic pelvis, Flattene... OMIM:156550
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Abnormal cartilage colla... ORPHA:485
Stickler Syndrome Type 1
Short nose, Proptosis, Hypoplasia of the maxilla ORPHA:90653
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Ovoid vertebral bodies, Delayed calcaneal ossification, Limitation of knee mobility, S... OMIM:183900
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Morbus Scheuermann, Beaking of vertebral bodies, Pectus excavatum, Kyph... OMIM:108300
Familial Avascular Necrosis Of Femoral Head
Abnormal femoral neck/head morphology, Flattened femoral head, Lower limb asymmetry ORPHA:86820
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly OMIM:619248
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga OMIM:132450
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Pectus carinatum, Pectus excavatum, Abnormal metacarpal morphology, Glossoptosis, ... ORPHA:166100
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Hearing impairment, Rhegmatogenous retinal detachment OMIM:609508

The table below shows human diseases predicted to be associated to Col2a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome
Amelia OMIM:601360
Amelia And Terminal Transverse Hemimelia
Amelia OMIM:104400
Bifid Nose, Autosomal Recessive
Bifid nose, Midline defect of the nose OMIM:210400
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Rhizomelia, Short femur, Short humerus OMIM:600121
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Midface retrusion, Limb undergr... OMIM:118651
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... OMIM:200700
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Madelung deformity, Hypoplasia of th... OMIM:249700
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Bilateral ... ORPHA:1972
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Lateral hum... OMIM:164900
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Faciocardiomelic Dysplasia, Lethal
Radial deviation of the hand, Hypoplasia of the radius, Talipes, Hypoplasia of the ulna, Single t... OMIM:227270
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Absent ossification of... OMIM:601376
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Frontal bossing, Midface retrusion, Postaxial oligodactyly, Malar flattening, Fib... OMIM:608571
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Leri-Weill Dyschondrosteosis
Radial bowing, Limited wrist movement, Hypoplasia of the radius, Short 4th metacarpal, Abnormal m... OMIM:127300
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Brachmann-De Lange-Like Facial Changes With Microcephaly, Metatarsus Adductus, And Developmental Delay
Microcephaly, Metatarsus adductus, Unusual dermatoglyphics OMIM:112370
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Hypoplasia of the... ORPHA:2634
Holoprosencephaly 7
Semilobar holoprosencephaly, Hypoplasia of the premaxilla, Absent nasal septal cartilage, Depress... OMIM:610828
Ulna And Fibula, Hypoplasia Of
Fibular hypoplasia, Hypoplasia of the ulna OMIM:191400
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Skeletal Defects, Genital Hypoplasia, And Mental Retardation
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... OMIM:612447
Eiken Syndrome
Cubitus valgus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Broad palm, Short f... ORPHA:79106
Omodysplasia 2
Dislocated radial head, Hypoplastic distal humeri, Frontal bossing, Limited elbow flexion/extensi... OMIM:164745
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad thumb, Large fontanelles, Elbow dislocation, Talipes, Broad hallu... ORPHA:2249
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Metaphyseal Anadysplasia
Abnormality of epiphysis morphology, Bowing of the long bones, Aplasia/Hypoplasia of the radius, ... ORPHA:1040
Brachydactyly Type A1
Short hallux, Distal symphalangism of hands, Short middle phalanx of finger, Cone-shaped epiphysi... ORPHA:93388
Metaphyseal Anadysplasia 2
Metaphyseal widening, Short femoral neck, Bowing of the legs, Metaphyseal irregularity OMIM:613073
Metachondromatosis
Abnormality of the metaphysis, Abnormality of epiphysis morphology, Multiple enchondromatosis ORPHA:2499
Schneckenbecken Dysplasia
Macrocephaly, Advanced tarsal ossification, Hypoplastic scapulae, Hypoplastic ilia, Dumbbell-shap... ORPHA:3144
Metaphyseal Acroscyphodysplasia
Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses of the phal... OMIM:250215
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Mesomelia, Talipes equinovalg... OMIM:605274
Rhizomelic Dysplasia, Patterson-Lowry Type
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... OMIM:601438
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Pes planus, Absent proximal radial epiphyses, Forearm undergrowth, Elbow ... OMIM:249600
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Metaphyseal Dysplasia Without Hypotrichosis
Joint laxity, Metaphyseal irregularity, Abnormality of the vertebral column, Metaphyseal cupping ... OMIM:250460
Ulnar Hypoplasia
Radial bowing, Distal ulnar hypoplasia, Hypoplasia of the radius, Mesomelic arm shortening, Radia... OMIM:191440
Upington Disease
Arthralgia of the hip, Flattened femoral head, Broad femoral neck, Multiple enchondromatosis OMIM:191520
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Elbow dislocation, Bowing of the long bones, Narrow iliac wing, Mesomeli... ORPHA:85170
Ulnar Hypoplasia With Mental Retardation
Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement OMIM:276821
Acheiropodia
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... ORPHA:931
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Mesomelic arm shortening, Short 2nd metacarpal, Radioulnar synostosis, Elbow dislocation, Midface... OMIM:171480
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Hypochondroplasia
Limited elbow extension, Frontal bossing, Aplasia/hypoplasia of the extremities, Malar flattening... OMIM:146000
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Sandal gap, Flat acet... OMIM:256050
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Short humerus, Abnormality of t... ORPHA:2491
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Proximal femoral metaphyseal irregularity, Platyspond... OMIM:609324
Brachymesomelia-Renal Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Micrognathia, Fibular hypoplasia, Ulnar bowin... OMIM:113470
Rhizomelic Chondrodysplasia Punctata, Type 2
Scoliosis, Anteverted nares, Stippled calcification proximal humeral epiphyses, Rhizomelia, Flexi... OMIM:222765
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Kyp... OMIM:271530
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Hhhh Syndrome
Hemiatrophy OMIM:306960
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Genu valgum, Hyperlordosis, Metaphyseal irregularity, Pes planus, Kyphosis, Ovoid vert... ORPHA:93315
Rhizomelic Dysplasia, Patterson-Lowry Type
Genu valgum, Deformed humeral heads, Rhizomelia, Mandibular prognathia, Short humerus, Coxa vara,... ORPHA:2831
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Fib... OMIM:228900
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Craniosynostosis, Proptosis, Basal ganglia calcification, Microcephaly, Prominent nasal bridge, H... OMIM:608432
Fibular Hemimelia
Hip subluxation, Craniosynostosis, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... OMIM:611702
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Abnormal bone ossification, Broad nasal tip, Elbow dislocation, Rhizomeli... ORPHA:166016
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormality of the ulna ORPHA:1118
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Metaphyseal irregularity, Swan neck-like deformities of the fingers, Metaphy... OMIM:616716
Hypochondroplasia
Scoliosis, Hyperlordosis, Short toe, Abnormal form of the vertebral bodies, Joint hyperflexibilit... ORPHA:429
Holoprosencephaly 3
Cyclopia, Midface retrusion, Holoprosencephaly, Short columella, Abnormality of the nose, Microce... OMIM:142945
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Autosomal Dominant Omodysplasia
Frontal bossing, Elbow dislocation, Rhizomelia, Short 1st metacarpal, Short humerus, Malar flatte... ORPHA:93328
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Joint stiffness, Kyphoscoliosis, St... OMIM:616583
Omodysplasia 1
Limited elbow extension, Hypoplastic distal humeri, Frontal bossing, Limited knee extension, Rhiz... OMIM:258315
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Spondyloperipheral Dysplasia
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Short finger, Rhizomelia, Hypoplastic ilia, ... OMIM:607095
Mental Retardation, Autosomal Recessive 45
Deeply set eye, Wide nasal bridge OMIM:615979
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Micrognathia, Prominent metopic r... OMIM:275595
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Short nose, Anteverted nares, Beaking of vertebral bod... OMIM:618961
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Split foot, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius ORPHA:1122
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Frontal bossing, Finger syndactyly, Hypoplasia of ... ORPHA:2256
Upper Limb Mesomelic Dysplasia
Radial bowing, Hypoplasia of the ulna, Ulnar deviation of finger ORPHA:2497
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Frontal bossing, Midface retrusion, Rhizomelia, Hypoplastic scapulae, Dumbbell-shape... ORPHA:440354
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Microcephaly OMIM:218650
Holoprosencephaly 2
Absent nasal septal cartilage, Cyclopia, Midface retrusion, Holoprosencephaly, Anterior pituitary... OMIM:157170
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Metaphyseal Dysplasia, Spahr Type
Genu valgum, Metaphyseal sclerosis, Metaphyseal chondrodysplasia, Metaphyseal dysplasia, Short lo... OMIM:250400
Arms, Malformation Of
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna OMIM:107900
Dyschondrosteosis And Nephritis
Radial bowing, Short forearm, Madelung deformity, Short tibia, Ulnar bowing OMIM:127350
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Abnormal cranial nerve morphology, Cycl... ORPHA:990
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Abnormali... ORPHA:93316
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Flared iliac wing, Short palm, Ovoid vertebral bodies, Cone-shaped epip... ORPHA:63446
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Retrognathia, Micrognathia... OMIM:249710
Cenani-Lenz Syndactyly Syndrome
Micrognathia, Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... ORPHA:1350
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Bowing of th... ORPHA:2631
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
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
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion OMIM:188800
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Narrow chest, Dumbbell-shaped metaphyses, Respirat... OMIM:156530
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Abnormal bone ossification, Poo... ORPHA:1263
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
Eiken Syndrome
Pseudoepiphyses, Long thumb, Flat acetabular roof, Delayed tarsal ossification, Delayed epiphysea... OMIM:600002
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Multiple Metaphyseal Dysplasia
Hyperlordosis, Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of ep... ORPHA:93430
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Oligodactyly, Absent forearm, Overlapping toe, Wide anterior fontanel, Fibul... OMIM:201170
Multiple Osteochondromas
Scoliosis, Abnormality of tibia morphology, Elbow dislocation, Bone pain, Abnormality of the meta... ORPHA:321
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... OMIM:611263
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Postaxial oligodactyly, Malar flattening, Aplasia/Hypoplasia of the fibula, Short foot, Talipes e... ORPHA:52056
Pallister-Hall-Like Syndrome
Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Death in infancy, Short ribs, ... OMIM:241800
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Platyspondyly, Abnormal vertebral morphology, Restricted large joint m... ORPHA:163665
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Micromelia, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Hypoplastic p... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Limited elbow extension, Irregular epiphyses, Ovoid vertebral bodies, Narrow iliac... OMIM:608728
Legg-Calvé-Perthes Disease
Cartilage destruction, Abnormality of the dentition ORPHA:2380
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Microretrognathia, Arrhinencephaly, Aplasia/Hypoplasia ... ORPHA:1788
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Flat occiput, Hypoplasia of the ulna, Clinodactyly, Micrognathia, Malar flattening ORPHA:357175
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Ab... ORPHA:1570
Holoprosencephaly 5
Semilobar holoprosencephaly, Hypertelorism, Holoprosencephaly, Alobar holoprosencephaly, Trigonoc... OMIM:609637
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Joi... ORPHA:40
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Atelosteogenesis, Type I
Short metatarsal, Elbow dislocation, Multinucleated giant chondrocytes in epiphyseal cartilage, M... OMIM:108720
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Reduced arm span, Abnormality of the ankles, Abnormality of... ORPHA:166002
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Coloboma, Cyclopia, Holoprosencephaly, Anosmia, Pyriform apertur... OMIM:147250
Acrodysostosis
Delayed eruption of teeth, Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Shor... ORPHA:950
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Metaphyseal irregularity, Carpal bone hypoplasia, Pes planus, Dolichoceph... OMIM:618395
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Mesomelic arm shortening, Scoliosis, Platyspondyly, Broad toe,... OMIM:609616
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Chondritis, Limitation of movement at ankles, Pes planus, Positi... ORPHA:566943
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip dysplasia, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... ORPHA:99642
Orofaciodigital Syndrome Type 10
Mesomelic arm shortening, Radial deviation of the hand, Prominent calcaneus, Fibular aplasia, Tar... ORPHA:2756
Microphthalmia With Limb Anomalies
Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpals, Frontal bossing, ... OMIM:206920
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... ORPHA:1986
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... OMIM:602557
Rhiny
Anteverted nares, Short nose OMIM:180360
Metaphyseal Acroscyphodysplasia
Scoliosis, Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Abno... ORPHA:1240
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic sacrum, Distal ulnar hypoplasia, Genu valgum, Hypoplastic pelvis, Carpal bone hypopla... OMIM:304950
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Congenital hip dislocation, Frontal bossing, Hypoplastic sc... ORPHA:93333
Mental Retardation, Autosomal Recessive 35
Flat occiput, Hypoplasia of the ulna, Clinodactyly, Micrognathia, Malar flattening OMIM:615162
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Microcephaly-Micromelia Syndrome
Oligodactyly, Humeroradial synostosis, Craniosynostosis, Aplasia/Hypoplasia of the corpus callosu... OMIM:251230
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Flared metaphysis, Dela... OMIM:601561
Mental Retardation Syndrome, Belgian Type
Coloboma, Cleft ala nasi, Mandibular prognathia, Deeply set eye, Wide nose OMIM:249599
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Malar flattening, Short nose, Hypoplasia of the maxilla OMIM:122880
Craniosynostosis With Fibular Aplasia
Craniosynostosis, Fibular aplasia, Single transverse palmar crease OMIM:218550
Odontochondrodysplasia
Scoliosis, Platyspondyly, Short nose, Square pelvis bone, Joint hyperflexibility, Bowing of the l... ORPHA:166272
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Convex nasal ridge, Platyspondyly, Irregularity of vertebral bodies, Cone-shaped epiphyses of the... ORPHA:85172
Mesomelic Dysplasia, Nievergelt Type
Scoliosis, Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostos... ORPHA:2633
Pacman Dysplasia
Epiphyseal stippling, Bowing of the long bones OMIM:167220
Trigonocephaly 2
Microcephaly, Hypertelorism OMIM:614485
Blount Disease, Adolescent
Bowing of the legs, Genu varum OMIM:259200
Mietens Syndrome
Hip dysplasia, Hypoplasia of the radius, Elbow dislocation, Talipes, Elbow ankylosis, Hypoplasia ... ORPHA:2557
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Czech Dysplasia
Scoliosis, Platyspondyly, Short metatarsal, Thoracic kyphosis, Flexion contracture, Narrow iliac ... OMIM:609162
Odontochondrodysplasia 1
Scoliosis, Nephronophthisis, Joint hypermobility, Short phalanx of finger, Narrow chest, Flared i... OMIM:184260
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Seckel Syndrome 1
Enamel hypoplasia, Pes planus, Small anterior fontanelle, Sandal gap, Cone-shaped epiphyses of th... OMIM:210600
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Multiple prenatal fractures, Cardiomegaly, Multiple ri... OMIM:616897
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Narrow chest, Dysplastic sacrum, Hypoplastic ischia, Iliac crest serration, Cardio... OMIM:613320
Otoonychoperoneal Syndrome
Dolichocephaly, Aplasia/Hypoplasia of the fibula, Ankle flexion contracture, Knee flexion contrac... OMIM:259780
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormality of long bone morphology, Short finger, Short toe, Abnormality of pelvic girdle bone m... OMIM:259270
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephal... ORPHA:2570
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Short ribs, Laryngeal calcificatio... OMIM:215045
Robin Sequence-Oligodactyly Syndrome
Micrognathia, Abnormality of the metacarpal bones, Hand oligodactyly, Abnormality of the ulna, Cl... ORPHA:3104
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Short nose, Large fontanelles, Proptosis, Delayed cranial suture closure, Dep... ORPHA:1832
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Upper limb phocomelia, Hypoplasia of the ulna, Short humerus, Aplasia/Hypoplasi... ORPHA:2878
Kyphomelic Dysplasia
Abnormal form of the vertebral bodies, Bowing of the long bones, Large hands, Flat acetabular roo... ORPHA:1801
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Rhizomelia, Ant... ORPHA:1426
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic no... OMIM:187601
Greenberg Dysplasia
Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Narrow chest, Intestinal m... OMIM:215140
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Flat capital femoral epiphysis, Genu varum, Platyspondyly OMIM:608361
Achondrogenesis Type 2
Delayed pubic bone ossification, Delayed proximal femoral epiphyseal ossification, Narrow chest, ... ORPHA:93296
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Frontal bossing, Shor... ORPHA:1278
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Scapulohumeral synostosis, Rhizomelia, Hypoplastic scapulae, Short humeru... OMIM:602471
Legg-Calve-Perthes Disease
Avascular necrosis of the capital femoral epiphysis OMIM:150600
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Short femur, Midface retrusion, Rhizomelia, Short humerus, Sandal gap, ... OMIM:607143
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Hypertelorism, Short nose, Pneumonia, Retrognathia, Anteverted nares, Chronic bronchitis, Depress... OMIM:614069
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Hypoplastic ischia, Narrow greater sciatic notch, Patent foramen ova... OMIM:228520
Spondylometaphyseal Dysplasia, Corner Fracture Type
Metaphyseal irregularity, Coxa vara, Genu varum, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... OMIM:113310
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of the elbow, Respiratory insufficiency, Short neck, Depressed nasal ri... ORPHA:1842
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Gener... ORPHA:2790
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Advanced tarsal ossification, Metaphyseal irregulari... OMIM:269250
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Short nose, Abnormal form of the vertebral bodies, Abnormality of the m... ORPHA:2370
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Holoprosencephaly 9
Hypoplasia of the premaxilla, Panhypopituitarism, Partial agenesis of the corpus callosum, Hypopl... OMIM:610829
Bowen-Conradi Syndrome
Micrognathia, Rocker bottom foot, Clinodactyly of the 5th finger, Microcephaly OMIM:211180
Cerebrooculonasal Syndrome
Craniosynostosis, Hypertelorism, Short nose, Anteverted nares, Frontal bossing, Hypoplasia of the... OMIM:605627
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormality of the metacarpal bones, Abnormal hip bone morpholo... ORPHA:1837
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Hypoplasia of the radius, Mandibular prognathia, Micromelia ORPHA:2252
Isolated Arrhinia
Absent nasal septal cartilage, Aplasia/Hypoplasia of the nasal septum, Hypertelorism, Hypoplasia ... ORPHA:1134
Osteochondrosis Of The Tarsal Bone
Chondritis, Flattening of the talar dome, Abnormal tarsal ossification, Pedal edema, Tarsal scler... ORPHA:563991
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Genu valgum, Platyspondyly, Limited elbow ex... OMIM:265900
Crouzon Disease
Convex nasal ridge, Hypertelorism, Frontal bossing, Midface retrusion, Iris coloboma, Choanal atr... ORPHA:207
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Convex nasal ridge, Platyspondyly, Short middle phalanx of th... OMIM:156510
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Epiphyseal stippling, Wide anterior fontanel, ... OMIM:619135
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Platyspondyly, Metaphyseal irregularity, Joint contracture of the 5th finger, Narrow... OMIM:601668
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Anteverted nares, Short finger, Kyphosis, Sclerosis of skull base, Wide nasal brid... OMIM:313420
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Abnormal lung lobation, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:2166
Macrosomia With Microphthalmia, Lethal
Respiratory infections in early life, Median cleft palate, Large for gestational age OMIM:248110
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Laryngotracheomalacia, Flat acetabular roof, Small epiphyses, Short femoral neck, Shor... ORPHA:94068
Atelosteogenesis, Type Iii
Widened distal phalanges, Radial bowing, Frontal bossing, Elbow dislocation, Midface retrusion, H... OMIM:108721
Lethal Recessive Chondrodysplasia
Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, Short long bone, Micrognat... ORPHA:1423
Cubitus Valgus With Mental Retardation And Unusual Facies
Microcephaly, Deeply set eye OMIM:300471
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Aplasia/Hypoplasia of the cerebellum, Hypertelorism, Frontal bossing, Choanal... ORPHA:93262
Ruvalcaba Syndrome
Scoliosis, Limited elbow extension, Short metatarsal, Short phalanx of finger, Kyphosis, Short fo... OMIM:180870
Brachydactyly, Type A2, With Microcephaly
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Microce... OMIM:211369
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Abnormal cartilage matrix, Atrial septal defect, Short neck,... ORPHA:2347
Sclerosteosis
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormality of the nose, Abn... ORPHA:3152
Kyphomelic Dysplasia
Radial bowing, Short femur, Micrognathia, Dumbbell-shaped humerus, Short humerus, Tibial bowing, ... OMIM:211350
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Underdeveloped nasal alae, Lower limb undergro... OMIM:186500
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Metaphyseal enchondromatosis, Anisospondyly, Generalized j... ORPHA:85198
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Hypoplastic cervical vertebrae, Abnormal enchondral ossificat... ORPHA:2635
Cono-Spondylar Dysplasia
Midface retrusion, Short humerus, Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the ... ORPHA:420794
Alazami Syndrome
Deeply set eye, Wide nasal bridge, Microcephaly, Malar flattening, Wide nose, Depressed nasal bridge OMIM:615071
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Narrow mouth, Thoracic hypoplasia, Bowing of the long bones, Wide nasal bridge, Sh... OMIM:224410
Otopalatodigital Syndrome, Type Ii
Wormian bones, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Broad th... OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Seizure, Stereotypy OMIM:617787
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Agenesis of corpus callosum, Preaxial polydactyly, Cone-shaped... OMIM:613091
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Clinodactyly of the 5th finger, ... ORPHA:3320
Hypophosphatasia, Infantile
Craniosynostosis, Intracranial hemorrhage, Death in infancy, Rachitic rosary, Hypercalciuria, Pho... OMIM:241500
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Retrognathia, Fibular ... OMIM:165590
Fibrochondrogenesis 2
Platyspondyly, Short nose, Hypoplastic ilia, Metaphyseal cupping, Hypoplastic pubic bone, Short r... OMIM:614524
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Hyperlordosis, Metaphyseal chondrodysplasia, Abnormality of epiphysis m... ORPHA:2501
Femoral-Facial Syndrome
Hip dysplasia, Long philtrum, Scoliosis, Short femur, Radioulnar synostosis, Short nose, Preaxial... ORPHA:1988
Cleidorhizomelic Syndrome
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... ORPHA:1453
Ivic Syndrome
Small thenar eminence, Limited wrist movement, Hypoplasia of the radius, Short femur, Upper limb ... OMIM:147750
Holoprosencephaly 4
Semilobar holoprosencephaly, Absent nasal septal cartilage, Depressed nasal tip, Hypotelorism, De... OMIM:142946
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Coarse metaphyseal trabecularization, Osteopathia striata, Abnormal diaphysis morphology, Abnorma... ORPHA:2779
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Lateral clavicle hook, Respiratory distress, Narrow ches... OMIM:617895
Achondrogenesis, Type Ib
Narrow chest, Stillbirth, Hypoplastic ilia, Short ribs, Respiratory insufficiency, Absent or mini... OMIM:600972
Ollier Disease
Platyspondyly, Osteolysis, Abnormal cartilage morphology, Multiple enchondromatosis, Joint stiffn... ORPHA:296
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Abnormality of the vertebral column, Stillbirth, Abnormal heart morphol... ORPHA:294975
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Amelogenesis imperfecta, Rhizomelia, Short humerus, Short ribs, Short clavicles, Short femoral ne... OMIM:610319
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Pachygyria, Bulbous nose, Midface retrusion, Hypoplasia of the corpus callosum, Optic atrophy, Pr... OMIM:618737
Dwarfism With Tall Vertebrae
Coxa vara, Increased vertebral height OMIM:126950
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Cyclopia, Proptosis, Abnormality of the diencephalon, Microcephaly ORPHA:2165
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Flared iliac wing, Rhizomelia, Metaphyseal cupping, Tibia... OMIM:602111
Autosomal Recessive Omodysplasia
Hypoplastic distal humeri, Craniosynostosis, Frontal bossing, Elbow dislocation, Rhizomelia, Abno... ORPHA:93329
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Thin calvarium, Limb undergrowth, Brachycephaly, Microcep... OMIM:122900
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Narrow chest, P... ORPHA:1505
Spondyloepiphyseal Dysplasia, Maroteaux Type
Genu valgum, Platyspondyly OMIM:184095
Frontonasal Dysplasia 1
Hypertelorism, Coloboma, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Short columella,... OMIM:136760
Three M Syndrome 1
Joint hypermobility, Mandibular prognathia, Spina bifida occulta, Short neck, Depressed nasal bri... OMIM:273750
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Metaphyseal irregularity, Spar... OMIM:600785
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Short nose, Frontal bossing OMIM:218010
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Narrow chest, Hypoplastic ilia, Short greater sciatic notch, Bowing of ... OMIM:187600
Palant Cleft Palate Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Contracture of the proximal ... OMIM:260150
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Thiemann Disease
Broad phalanx, Short phalanx of finger OMIM:165700
Pallister W Syndrome
Radial bowing, Cubitus valgus, Agenesis of central incisor, Frontal bossing, Pes planus, Camptoda... OMIM:311450
Epiphyseal Dysplasia, Multiple, 4
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Double-layered patella, Short metacar... OMIM:226900
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Abnormality of tibia morphology, Abnormal form of the vertebral b... ORPHA:3344
Boomerang Dysplasia
Hypoplastic iliac body, Absent radius, Fibular aplasia OMIM:112310
Microcephaly 13, Primary, Autosomal Recessive
Metaphyseal sclerosis, Simplified gyral pattern, Cerebellar hypoplasia, Small hand, Short foot, M... OMIM:616051
Brachydactyly, Type A1
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... OMIM:112500
Gnathodiaphyseal Dysplasia
Scoliosis, Bowing of the long bones, Recurrent fractures, Osteopenia, Mandibular osteomyelitis, T... ORPHA:53697
Thiemann Disease, Familial Form
Abnormality of the metaphysis, Brachydactyly, Limitation of joint mobility, Abnormality of epiphy... ORPHA:3314
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Rhizomelia, Talipes equinovarus ORPHA:85174
Ring Chromosome 4 Syndrome
Split hand, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Abnormality of the ulna ORPHA:1447
Brachydactyly, Type A3
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... OMIM:112700
Spondylocamptodactyly Syndrome
Scoliosis, Camptodactyly of finger, Platyspondyly ORPHA:3180
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Midface retrusion, Proptosis, Broad nasal tip ORPHA:2776
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacar... OMIM:300863
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Hypoplastic ilia, Decreased cranial base ossification, ... OMIM:151210
Microform Holoprosencephaly
Panhypopituitarism, Short nose, Cyclopia, Holoprosencephaly, Midnasal stenosis, Choanal atresia, ... ORPHA:280200
Juberg-Hayward Syndrome
Scoliosis, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Abnormality of finger... ORPHA:2319
Seckel Syndrome 4
Microcephaly, Retrognathia, Underdeveloped nasal alae OMIM:613676
Shox-Related Short Stature
Cubitus valgus, Genu valgum, Ulnar radial head dislocation, Madelung deformity, Tibial bowing, Fo... ORPHA:314795
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... OMIM:617604
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... ORPHA:3416
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Short nose, Short columella, Short distal phalanx of finger, Vert... OMIM:155050
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Radioulnar synostosis, Forearm reduction defects, Hypoplasia of the uln... OMIM:614900
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Chorioretinal coloboma, Hypertelorism, Short nose, Frontal bossing, Cerebellar vermis hypoplasia,... ORPHA:163961
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Irregular epi... OMIM:132400
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Rhizomelia, Short finger, Ovoid vertebral bod... OMIM:608940
Achondroplasia
Limited elbow extension, Frontal bossing, Trident hand, Rhizomelia, Midface retrusion, Megalencep... OMIM:100800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Craniosynostosis, Short phalanx of finger, High palate, Cone-shap... OMIM:266920
Immunodeficiency 43
Radial bowing, Hypoplasia of the ulna OMIM:241600
Microcephaly 3, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Proptosis, Simplified gyral pattern OMIM:604804
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia ORPHA:1277
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Micromelia OMIM:269870
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Accelerated skeletal maturation, Short metatarsal, Ulnar deviation of the hand, Acetab... ORPHA:93307
Stuve-Wiedemann Syndrome
Scoliosis, Short phalanx of finger, Pathologic fracture, Micrognathia, Elbow flexion contracture,... OMIM:601559
Craniofacial-Deafness-Hand Syndrome
Hypertelorism, Short nose, Depressed nasal bridge, Depressed nasal ridge, Aplasia/Hypoplasia invo... ORPHA:1529
Dysosteosclerosis
Oligodontia, Delayed closure of the anterior fontanelle, Narrow chest, Natal tooth, Increased sus... OMIM:224300
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Metaphyseal Chondrodysplasia, Kaitila Type
Limited elbow extension, Proximal femoral metaphyseal irregularity, Metaphyseal chondrodysplasia,... OMIM:250230
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Broad nasal tip, Thoracic kyphosis, Large hands, Long toe, Cleft lip, Cleft palate OMIM:300263
2q37 monosomy
Deeply set eye DECIPHER:44
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Lumbar scoliosis, Irregular vertebral endplates, Bowing of the legs, Lower limb un... OMIM:612847
Jawad Syndrome
Primary microcephaly, Retrognathia, Prominent nose OMIM:251255
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Temporal cortical atrophy, Frontal cortical atrophy, Partial absence of cerebellar vermis, Mandib... ORPHA:137831
Blount Disease
Abnormality of the proximal tibial epiphysis, Abnormality of the tibial metaphysis, Abnormality o... ORPHA:2768
Brachyolmia Type 1, Toledo Type
Squared-off platyspondyly, Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Int... OMIM:271630
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Enlarged epiphyses, Premature osteoarthritis, Anteverted nares, Epiphyseal dysplasia OMIM:184840
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Frontal bossing, Midface retrusion, Broad metatarsal, Broad hal... ORPHA:1540
Robin Sequence With Cleft Mandible And Limb Anomalies
Radial deviation of the hand, Hypoplasia of the radius, Hip subluxation, Short phalanx of finger,... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... ORPHA:93356
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Microcephaly ORPHA:3469
3M Syndrome
Rocker bottom foot, Abnormal dental enamel morphology, Scapular winging, Delayed eruption of teet... ORPHA:2616
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Midface retrusion, Broad hallux phalanx, Mandibular prognathia, Trigonocephaly, M... ORPHA:168624
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the knee, Wormian bones, Osteolysis, Hyperlordosis, Abnormali... ORPHA:970
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Narrow mouth, Narrow chest, Respiratory insufficiency, Hypoplastic ischia, B... ORPHA:1865
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Coxa vara, Narrow greater s... OMIM:602271
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Anteverted nares, Kyphosis, Irregular vertebral endplates... OMIM:234250
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Narrow chest, Elbow dislocation, Joint hyperflexibility, Bell-shaped ... ORPHA:1803
Peho-Like Syndrome
Pachygyria, Short nose, Hypoplasia of the corpus callosum, Polymicrogyria, Retrognathia, Optic at... OMIM:617507
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla, Proptosis, Broad nasal tip OMIM:259610
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... OMIM:177170
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal widening, Broad tibial metaphyses, Broad palm, Aplasia/Hypoplasia of metatarsal bones... ORPHA:2502
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur, Absent septum pellucidum OMIM:601357
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Familial Digital Arthropathy-Brachydactyly
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... ORPHA:85169
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Midface retrusion, Abnormal hand morphology, Small hand, Short foot, Malar flattening OMIM:300261
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Acrocephalopolydactyly
Premature closure of fontanelles, Genu recurvatum, Oxycephaly, Limb undergrowth, Short long bone,... ORPHA:221054
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Hypo... OMIM:617866
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Spli... OMIM:609945
Achondrogenesis Type 1A
Long philtrum, Short neck, Short nose, Abnormal enchondral ossification, Recurrent fractures, Apl... ORPHA:93299
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Abnormality of the... ORPHA:971
Achondrogenesis, Type Ia
Hypoplasia of the radius, Unossified vertebral bodies, Short neck, Short nose, Abnormal hand bone... OMIM:200600
Laron Syndrome
Short long bone, Limb undergrowth OMIM:262500
Sillence Syndrome
Scoliosis, Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Campt... ORPHA:3168
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Wide anterior fontanel, Narrow mouth, Abnormal ... ORPHA:2021
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Short femur, Macrocephaly, Wide anterior fontanel, Frontal ... ORPHA:1860
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Midface retrusion, Hypoplasia of the co... OMIM:617102
Campomelic Dysplasia
Macrocephaly, Hypoplastic inferior ilia, Bowing of the long bones, Hypoplasia of olfactory tract,... ORPHA:140
Achondrogenesis, Type Ii
Stillbirth, Broad long bones, Hypoplastic iliac wing, Absent vertebral body mineralization, Horiz... OMIM:200610
Radio-Renal Syndrome
Convex nasal ridge, Hypoplasia of the radius, Short neck, Respiratory distress, Dyspnea, Abnormal... ORPHA:3015
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Deeply set eye, Macrocephaly, Microcephaly, Prominent nasal bridge, Hypoplasia of the maxilla ORPHA:85279
Atelosteogenesis Type Iii
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Patellar dislocation, Elbow dislocati... ORPHA:56305
Chromosome 1Q41-Q42 Deletion Syndrome
Frontal bossing, Holoprosencephaly, Deeply set eye, Microcephaly, Hypotelorism, Anteverted nares,... OMIM:612530
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Abnormal dental enamel morphology, Toe syndactyly, Radiou... ORPHA:3258
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Metachondromatosis
Bowing of the long bones, Multiple enchondromatosis OMIM:156250
Weismann-Netter Syndrome
Squared iliac bones, Delayed eruption of permanent teeth, Fibular bowing, Calvarial hyperostosis,... OMIM:112350
Maxillonasal Dysplasia
Short nose, Hypoplasia of the maxilla, Midface retrusion, Short columella, Mandibular prognathia,... ORPHA:1248
Congenital Varicella Syndrome
Intrauterine growth retardation, Micromelia ORPHA:291
Exostoses, Multiple, Type I
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133700
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Pettigrew Syndrome
Deeply set eye, Mandibular prognathia, Abnormality of the basal ganglia, Cerebral calcification, ... OMIM:304340
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short thorax, Narrow chest, Hypoplastic pelvis, Hypoplastic scapulae, Bowing of th... ORPHA:85166
Orofaciodigital Syndrome Iv
Porencephalic cyst, Hand polydactyly, Toe syndactyly, Short finger, Cerebral atrophy, Postaxial p... OMIM:258860
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Campomelic Dysplasia
Talipes equinovarus, Macrocephaly, Hypoplastic cervical vertebrae, Wide anterior fontanel, Hypopl... OMIM:114290
Image Syndrome
Intrauterine growth retardation, Metaphyseal dysplasia, Micromelia ORPHA:85173
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
W Syndrome
Radial bowing, Cubitus valgus, Elbow dislocation, Pes planus, Camptodactyly, Agenesis of maxillar... ORPHA:2804
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Finger syndactyly, Hypoplasia of the ulna, Mic... ORPHA:246
Brachydactyly, Type A1, C
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... OMIM:615072
Thalidomide Embryopathy
Radial club hand, Preaxial hand polydactyly, Upper limb phocomelia, Split hand, Aplasia/hypoplasi... ORPHA:3312
20P12.3 Microdeletion Syndrome
Hypertelorism, Wide nasal bridge, Depressed nasal bridge, Macrocephaly, Malar flattening, Hypopla... ORPHA:261295
17Q21.31 Microduplication Syndrome
Short philtrum, Short nose, High palate, Abnormality of the dentition, Failure to thrive, Microce... ORPHA:217340
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Flared iliac wing, Rhizomelia, Flared femoral metaphys... OMIM:183849
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Wormian bones, Thin calvarium, Midface retrusion, Elevated circulating... OMIM:601812
Cleidocranial Dysplasia
Enamel hypoplasia, Scoliosis, Wormian bones, Narrow palate, Narrow chest, Hypoplastic frontal sin... OMIM:119600
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Concave nasal ridge, Abnormal cortical bone morphology, Pa... ORPHA:166277
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsa... OMIM:271650
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Respiratory tract infection, Decreased motor nerve conduction velocity, Hypertelorism, Short nose... OMIM:218000
Non-Distal Trisomy 10Q
Convex nasal ridge, Hypertelorism, Short nose, Frontal bossing, Brachycephaly, Microcephaly, Micr... ORPHA:1695
Hemidystonia-Hemiatrophy Syndrome
Abnormal paranasal sinus morphology, Abnormal periventricular white matter morphology, Hemiatroph... ORPHA:306741
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Abnormality of the mouth, Bulbous nose OMIM:102150
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Delayed pubic bone ossification, Genu valgum, Club-shaped proximal femur, Hyperlordosi... OMIM:184250
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Narrow chest, Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular... OMIM:614091
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Hip subluxation... OMIM:271665
Thoracolaryngopelvic Dysplasia
Scoliosis, Hypoplastic pelvis, Hypoplastic iliac wing, Irregular vertebral endplates, Horizontal ... OMIM:187760
Mental Retardation, Autosomal Recessive 41
Frontal bossing, Mandibular prognathia, Dolichocephaly, Broad nasal tip, Macrocephaly, Retrognath... OMIM:615637
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Genu valgum, Delayed pubic bone ossification, Metaphyseal irregularity, Enlarged epiphyses, Hypop... OMIM:613330
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur OMIM:228250
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Midface retrusion, Rhizom... ORPHA:1190
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Hypoplasia of the radius, Hypoplastic pelvis, Prominent palmar flexion creases, Rhizomelia, Hypop... OMIM:602613
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly of the 5th finger, Absent rad... ORPHA:1352
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Joint contracture of the hand, Micromelia OMIM:601016
Prenatal Bowing
Bowing of the long bones OMIM:264050
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limited elbow extension, Bowing of the legs, Limb undergrowth ORPHA:156728
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Broad thumb, Tarsal synostosis, Elbow dislocation, Bilateral single... ORPHA:1106
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Irregular patellae, Patellar hypoplasia, Genu varum, Short femoral neck, Epiphyseal dysplasia, Br... OMIM:609325
Acromicric Dysplasia
Abnormality of femur morphology, Bulbous nose, Anteverted nares, Abnormality of epiphysis morphol... ORPHA:969
Pentasomy X
Hip dysplasia, Camptodactyly of finger, Radioulnar synostosis, Micrognathia, Plagiocephaly, Small... ORPHA:11
Perching Syndrome
Respiratory distress, Feeding difficulties, Dysphagia, Camptodactyly, Flexion contracture, High p... OMIM:617055
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Finger joint hypermobility, Short long bone, Coxa vara, Avascular nec... ORPHA:93308
Spinal Muscular Atrophy With Mental Retardation
Microcephaly, Syndactyly OMIM:271109
Intellectual Developmental Disorder, X-Linked 72
Seizure, Stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Frontal bossing, Mandibular prognathia, Macrocephaly, Prominent nasal bridge, Hypoplasia of the m... OMIM:300676
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Dislocated radial head, Craniosynostosis, Camptodactyly of toe, Ulnar bo... OMIM:600920
Acromesomelic Dysplasia, Maroteaux Type
Short metatarsal, Short phalanx of finger, Joint laxity, Ovoid vertebral bodies, Cone-shaped epip... OMIM:602875
Exostoses, Multiple, Type Ii
Genu valgum, Madelung-like forearm deformities, Coxa vara, Protuberances at ends of long bones, P... OMIM:133701
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Proximal placement of thumb, Absent radius, Hand polydactyly, Short humerus OMIM:314390
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Deeply set eye, Retrognathia, Microcephaly, Wide nasal bridge OMIM:618342
Axial Spondylometaphyseal Dysplasia
Proximal femoral metaphyseal irregularity, Platyspondyly, Short nose, Rhizomelia, Irregular iliac... ORPHA:168549
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, H... ORPHA:1908
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Abnormality of the metacarpal bones, Joint stiffness, Micrognath... ORPHA:2496
Intellectual Developmental Disorder, X-Linked 104
Hypoplasia of the corpus callosum, Wide nasal bridge, Cerebral cortical atrophy, Retrognathia, Op... OMIM:300983
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Radial bowing, Madelung deformity, Limited pronation/supination of forearm DECIPHER:58
Coxoauricular Syndrome
Reduced bone mineral density, Abnormality of femur morphology, Hip dislocation, Abnormality of pe... ORPHA:1508
Digital Arthropathy-Brachydactyly, Familial
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... OMIM:606835
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Cyclopia, Alobar holoprosencephaly, Apl... OMIM:301043
Diaphanospondylodysostosis
Short thorax, Multiple renal cysts, Short neck, Respiratory distress, Enlarged thorax, Absent or ... ORPHA:66637
Nemaline Myopathy 9
Scoliosis, Narrow chest, Respiratory insufficiency, Cleft palate, High palate, Micrognathia OMIM:615731
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Distal Monosomy 17Q
Abnormal thumb morphology, Abnormal form of the vertebral bodies, Micromelia, Upper limb asymmetr... ORPHA:1597
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Fibular aplasia, Humero... ORPHA:2879
Mental Retardation With Language Impairment And With Or Without Autistic Features
Hypertelorism, Short nose, Broad nasal tip, Macrocephaly, Retrognathia, Malar flattening OMIM:613670
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metac... ORPHA:163966
Melanocytic Nevus Syndrome, Congenital
Narrow nasal ridge, Prominence of the premaxilla, Hypertelorism, Short nose, Broad nasal tip, Ant... OMIM:137550
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Macrocephaly, Wide anterior fontanel, Shortening of all phalanges of fingers, Meso... OMIM:601356
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Short nose, Omph... ORPHA:1906
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
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, Short femoral neck, Advanced ossification of carpal bo... OMIM:618363
Jeune Syndrome
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... ORPHA:474
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Hypoplasia of the radius, Short thumb, Distally placed thumb OMIM:179270
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Narrow chest, Downturned corners of mouth, Thoracic kyphos... ORPHA:163649
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Cousin Syndrome
Dislocated radial head, 4-5 toe syndactyly, Fibular aplasia, Toe syndactyly, Rhizomelia, Camptoda... OMIM:260660
Hyperleucine-Isoleucinemia
Seizure, Sensorineural hearing impairment, Failure to thrive, Retinal degeneration OMIM:238340
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Branchial anomaly, Spinal dysraphism, Choanal atresia, Iris... ORPHA:2162
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Hypertelorism, Microcephaly, Retrognathia OMIM:245552
Isolated Brachycephaly
Midface retrusion, Metacarpal synostosis, Brachydactyly, Brachycephaly ORPHA:35099
N-Acetylaspartate Deficiency
Seizure, Decreased body weight, Truncal ataxia, Stereotypy OMIM:614063
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Macrocephaly, Posterior rib fusion, Vertebral segmentatio... ORPHA:1797
Cutis Laxa, Autosomal Recessive, Type Iib
Narrow nasal ridge, Hypertelorism, Bulbous nose, Agenesis of corpus callosum, Large fontanelles, ... OMIM:612940
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Hypertelorism, Calvarial skull defect, Holopr... ORPHA:945
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Osteoa... OMIM:271600
Osteogenesis Imperfecta, Type V
Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Recurrent fractures, Anterior rad... OMIM:610967
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Short neck, Elbow dislocation, Phalangeal dislocation, Camptodactyly, R... OMIM:264180
Nager Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Abnormal palate morphology, Wide mouth, Aplasia/Hy... ORPHA:245
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Metaphyseal widening, Platyspondyly, Enlarged interphalang... OMIM:208230
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Developmental And Epileptic Encephalopathy 58
Spastic diplegia, Seizure, Status epilepticus, Stereotypy, Optic atrophy OMIM:617830
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Patellar subluxation, Abnormality of the dentition, Radial deviation of finger, Cli... OMIM:309610
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Microcephaly-Capillary Malformation Syndrome
Hypertelorism, Short nose, Hypoplasia of the corpus callosum, Cerebral atrophy, Optic atrophy, Pr... OMIM:614261
Orofaciodigital Syndrome Ix
Hand polydactyly, Toe syndactyly, Camptodactyly, Microcephaly, Short tibia OMIM:258865
Grant Syndrome
Wormian bones, Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Usher Syndrome, Type Ig
Hypoplasia of the nasal bone OMIM:606943
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Acromicric Dysplasia
Short phalanx of finger, Cone-shaped epiphysis, Short foot, Fifth metacarpal with ulnar notch, Sh... OMIM:102370
Distal Trisomy 5Q