Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
protein kinase, cGMP-dependent, type II
Synonyms:
cGK-II,  Prkgr2

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 Prkg2 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 Prkg2 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Prkg2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy... OMIM:619598
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Lytic defects of humeral ... OMIM:601376
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed... OMIM:601438
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Osebold-Remondini Syndrome
Tarsal synostosis, Abnormality of the vertebral column, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Short ribs, Delayed epiphyseal ossificati... OMIM:602557
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Spinal Dysplasia, Anhalt Type
Spinal dysplasia, Osteoarthritis of the small joints of the hand, Coxa vara, Absent spinous proce... OMIM:601344
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Metaphyseal Acroscyphodysplasia
Genu varum, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epiphyses of the phala... OMIM:250215
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... ORPHA:75508
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovoid vertebral bodie... OMIM:184255
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Irregular vertebral endplates, Failure to thrive, Rhizomelia, Osteopenia, Stippled ... OMIM:222765
Fibrodysplasia Ossificans Progressiva
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... OMIM:135100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Tapered finger, Irregular vertebral endplates, Obesity, Metaphyseal irregularit... OMIM:618395
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture, ... OMIM:249600
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Small for gestational age, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasi... OMIM:227270
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... ORPHA:1972
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ... ORPHA:2249
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation of finger, Coxa vara, S... ORPHA:2831
Holoprosencephaly, Semilobar, With Craniosynostosis
Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valga, Coronal craniosynostosi... OMIM:601370
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb... ORPHA:2141
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Richieri Costa-Da Silva Syndrome
Metatarsus adductus, Dysphagia, Generalized bone demineralization, Vertebral wedging, Beaking of ... ORPHA:3101
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Broad long bones, Abnormal cartilage matrix, Coronal cleft vertebr... ORPHA:2347
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ... OMIM:609324
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Metaphyseal Anadysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Abnormality of the lower limb, Bowi... ORPHA:1040
Eiken Syndrome
Limited elbow flexion, Cubitus valgus, Epiphyseal dysplasia, Absence of the sacrum, Metaphyseal i... ORPHA:79106
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Odontoid Hypoplasia
Dystopic os odontoideum, Hypoplasia of the odontoid process, Cervical instability, Atlantoaxial i... OMIM:613628
Dysosteosclerosis
Increased intervertebral space, Short ribs, Absent frontal sinuses, Progressive bowing of long bo... OMIM:224300
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Cervical platyspondyly, Hypoplasia of the odontoid process, Palmop... OMIM:169170
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... ORPHA:93352
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Metaphyseal Dysplasia Without Hypotrichosis
Abnormality of the vertebral column, Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of me... OMIM:250460
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... OMIM:304950
Gurrieri Syndrome
Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplast... OMIM:601187
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A... OMIM:617719
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, 11 pairs of ribs, Short humerus, Cl... OMIM:108720
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Abnormal vertebral morph... OMIM:142900
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Short iliac bones, Sclerotic foci of metaphyses of the elbow, Sho... OMIM:271530
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abnormality of th... ORPHA:2635
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Dysosteosclerosis
Irregular vertebral endplates, Abnormality of the metaphysis, Platyspondyly, Coarse metaphyseal t... ORPHA:1782
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Reduced arm span, Genu varum, Arthralgia of the hip, Abnormality of the knee, Fragmentation of th... ORPHA:166002
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Iliac crest serration, Posterior w... ORPHA:168549
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Scoliosis, Tibial torsion, Bowing of the legs OMIM:188800
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Greenberg Dysplasia
Epiphyseal stippling, Short ribs, Abnormal bone structure, Multiple prenatal fractures, Patchy va... OMIM:215140
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Opsismodysplasia
Tapered finger, Abnormality of epiphysis morphology, Abnormality of the metaphysis, Hypoplastic i... ORPHA:2746
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... OMIM:263540
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone min... ORPHA:94068
Vertebral Hypoplasia With Lumbar Kyphosis
Lumbar kyphosis, Vertebral hypoplasia OMIM:192900
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli... OMIM:607143
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Avascula... OMIM:132400
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Hypochondroplasia
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius OMIM:212780
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ri... OMIM:610319
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Autosomal Dominant Omodysplasia
Micrognathia, Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Patellar dislocation, ... ORPHA:93328
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, D... OMIM:602471
Kyphomelic Dysplasia
Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla... OMIM:211350
Acrodysostosis
Abnormality of the ulna, Spinal canal stenosis, Cone-shaped epiphysis, Epiphyseal stippling, Shor... ORPHA:950
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Atelosteogenesis, Type Ii
Short middle phalanx of finger, Short greater sciatic notch, Increased intervertebral space, Tali... OMIM:256050
Opsismodysplasia
Metaphyseal cupping, Rhizomelia, Short foot, Severe platyspondyly, Hypoplastic ischia, Hypoplasti... OMIM:258480
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... OMIM:249710
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Schneckenbecken Dysplasia
Diaphyseal thickening, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Fibular hypop... ORPHA:3144
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi... ORPHA:2557
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Syndactyly, Mesomelia OMIM:228940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormality of epiphysis mor... ORPHA:93351
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Decreased body weight, Clinodactyly ORPHA:357175
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Ab... ORPHA:99642
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ... OMIM:226900
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o... ORPHA:1263
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Abnormal ... ORPHA:93284
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Cubitus valgus, Genu valgum, Short foot, Obe... ORPHA:314795
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Cono-Spondylar Dysplasia
Short lower limbs, Failure to thrive, Short 4th toe, Epiphyseal dysplasia, Kyphosis, Short humeru... ORPHA:420794
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars... OMIM:271650
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Short ribs, P... OMIM:245190
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasi... ORPHA:2256
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Spinal canal stenosis, Small for gestational age, Epiphyseal stippling, Short metatar... OMIM:101800
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Postaxial hand ... ORPHA:2916
Diastrophic Dysplasia
Micrognathia, Short finger, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowin... ORPHA:628
Mental Retardation, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Decreased body weight, Clinodactyly OMIM:615162
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Hip dysplasia, Abnormal... ORPHA:1988
Holoprosencephaly-Craniosynostosis Syndrome
Craniosynostosis, Short distal phalanx of finger, Hypoplastic vertebral bodies, Coxa valga, Clino... ORPHA:2163
Pelviscapular Dysplasia
Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb... ORPHA:93333
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Kyphosis, Abnormality o... ORPHA:2114
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Abnormality of the vertebral column, Cervical platyspondyly, Short mid... ORPHA:93314
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Craniosynostosis, Forearm undergrowth OMIM:218650
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi... OMIM:609052
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphys... OMIM:608728
Acrocapitofemoral Dysplasia
Genu varum, Cone-shaped epiphysis, Ovoid vertebral bodies, Coxa vara, Cone-shaped metacarpal epip... ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa... ORPHA:93356
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal form of the vertebral bo... ORPHA:1426
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o... ORPHA:1802
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Talipes equinovarus, Craniosynostosis, Absent radius, Fore... OMIM:251230
Infantile Liver Failure Syndrome 3
Abnormal acetabulum morphology, Talipes equinovarus, Beaking of vertebral bodies, Platyspondyly, ... OMIM:618641
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta... OMIM:609616
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... ORPHA:3258
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Generalized joint laxity, Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypopl... OMIM:609325
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Abnormal digit morphology, Absent thumb, Forearm reduction defects, Hyp... OMIM:614900
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Spondyloepimetaphyseal Dysplasia, Missouri Type
Irregular sclerotic endplates, Small epiphyses, Tibial bowing, Genu varum, Radial bowing, Pear-sh... OMIM:602111
3M Syndrome
Rocker bottom foot, Abnormality of the elbow, Congenital hip dislocation, Abnormality of the meta... ORPHA:2616
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Epiphyseal stippling, Shortening of all distal phalanges... OMIM:619135
Caudal Regression Sequence
Talipes equinovarus, Abnormal vertebral segmentation and fusion, Missing ribs, Abnormal iliac win... ORPHA:3027
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Aplasia/Hypoplasia of the radius, Symphalangism affecting th... ORPHA:2741
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Multiple Epiphyseal Dysplasia, Beighton Type
Abnormal hip joint morphology, Abnormal lumbar spine morphology, Thoracic scoliosis, Abnormality ... ORPHA:166011
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Short long b... ORPHA:1423
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Acromesomelic Dysplasia 1
Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux... OMIM:602875
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr... OMIM:616897
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Atelosteogenesis Type I
Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ... ORPHA:1190
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Micrognathia, Ulnar deviation of the hand, Ulnar devia... OMIM:602613
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Abnormal vertebral morphology, Proximal placement of thumb, ... OMIM:314390
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Smith-Mccort Dysplasia 2
Broad metatarsal, Flattened femoral head, Hypoplasia of the odontoid process, Short metatarsal, M... OMIM:615222
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Contr... OMIM:601559
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Micrognathia, Small epiphyses, Microretrognathia, Hip contracture, Knee dislocation, Coronal clef... OMIM:618363
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Short Stature-Obesity Syndrome
Micrognathia, Limb undergrowth, Obesity, Clinodactyly of the 5th finger, Micromelia, Brachydactyly OMIM:269870
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Osteoarthritis, Micromelia, Platyspondyly ORPHA:93283
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Delayed epiphyseal ossification, Platyspondyly, Wide anterior ... OMIM:601561
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:2631
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... ORPHA:79345
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... ORPHA:1159
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like vertebral bodi... OMIM:151210
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Fibrochondrogenesis 1
Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,... OMIM:228520
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Talipes equinovarus, Cubitus valgus, Pes planus, Camptodactyly of finger, Narrow vertebral interp... OMIM:143095
Kyphomelic Dysplasia
Micrognathia, Large hands, Bowing of the long bones, Abnormal form of the vertebral bodies, Missi... ORPHA:1801
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Limb undergrowth, Lumbar hyperlordosis, Limited elbow extension, Bowing of the legs ORPHA:156728
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Scoliosis, Foot oligodactyly OMIM:601357
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Talipes equinovarus, Small hand, Platyspondyly, Short palm, Hyp... ORPHA:85172
Acro-Renal-Mandibular Syndrome
Micrognathia, Butterfly vertebrae, Hypoplastic scapulae, Hemivertebrae, Hypoplasia of the radius,... ORPHA:958
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Increased intervertebral space, Metaphyseal widening, Limb undergrowth, Bea... OMIM:618961
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe... OMIM:210710
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Rhizomelia, Craniosynostosis, Abnormality of the m... ORPHA:93329
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Micrognathia, Early os... ORPHA:397715
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Tapered finger, Failure to thrive, Abnormality of the metaphysis,... ORPHA:157965
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Odontochondrodysplasia 1
Genu varum, Genu recurvatum, Short phalanx of finger, Short long bone, Flat acetabular roof, Cone... OMIM:184260
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Abnormality of the vertebral column, Metaphyseal dysplasia, Abnormalit... ORPHA:93316
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Postaxial Acrofacial Dysostosis
Micrognathia, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Hypoplasia of... ORPHA:246
Slc35A2-Cdg
Metatarsus adductus, Limb joint contracture, Failure to thrive in infancy, Talipes equinovarus, A... ORPHA:356961
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebrae, Short phala... ORPHA:1427
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Radioulnar dislocation, Fibular hypoplasia, Ul... OMIM:164900
Codas Syndrome
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Coronal cleft vertebrae, Pes valgus, G... OMIM:600373
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Irregular vertebral endplates, Metaphyseal irregularity, Platysp... OMIM:601668
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Kyphoscoliosis, Massively thickened long bone cortices, Micromelia, Brachydactyly OMIM:122900
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Nonopposable triphalangeal thumb, Micromelia, Hypoplasia of the radius ORPHA:2252
Omodysplasia 1
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplas... OMIM:258315
Ruvalcaba Syndrome
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Limited elbow extension, Sh... OMIM:180870
W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Pes planus, Pes cavus, Camptodactyly, Elbow d... ORPHA:2804
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Unicameral bone... ORPHA:83468
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Short metacarpal, Mesomelia, ... OMIM:617604
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, H... OMIM:602418
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Metaphyseal irregularity, Pes planus, Platyspondyly, Gen... OMIM:184250
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl... OMIM:184253
Pallister W Syndrome
Metatarsus adductus, Radial bowing, Cubitus valgus, Joint contracture of the hand, Pes planus, Ra... OMIM:311450
Gm1 Gangliosidosis Type 1
Flattened femoral head, Flared iliac wing, Platyspondyly, Beaking of vertebral bodies T12-L3, Ace... ORPHA:79255
Van Den Ende-Gupta Syndrome
Hallux valgus, Narrow foot, Talipes equinovarus, Glenoid fossa hypoplasia, Ulnar bowing, Joint co... OMIM:600920
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Coronal cleft vertebrae, Epiphyseal stippling, Bowing of the long bones, Coarse metap... ORPHA:1952
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Short ribs, Advanced ossification of carpal bones, Flar... OMIM:215045
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Platyspo... OMIM:601356
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Kyphosis, Hypoplastic vertebral bodies, Joint stiffness, Short neck,... OMIM:230500
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Cubitus valgus, Joint hypermobility, Hypoplastic vertebral bodies, Short... OMIM:114620
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Kuskokwim Syndrome
Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius, Abnormal form of th... ORPHA:1149
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Short clavicles, Talipes e... OMIM:309350
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal foot morphology, Irregular acetabular roof, Kyphoscoliosis, Platyspondyly, Short neck, C... OMIM:184252
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Campomelic Dysplasia
Shortening of all phalanges of the toes, Micrognathia, Shortening of all phalanges of fingers, Tr... OMIM:114290
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Hypoplasia of the odontoid process, Vertebral segmentation d... OMIM:609813
Femoral-Facial Syndrome
Talipes equinovarus, Hypoplastic acetabulae, Short humerus, Short fourth metatarsal, Limited elbo... OMIM:134780
Dysplastic Cortical Hyperostosis
Limb undergrowth, Increased bone mineral density, Abnormality of limb bone morphology, Abnormal c... ORPHA:2204
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Butterfly vertebrae, Hypoplastic scapulae, Hemivertebrae, Kyphoscol... OMIM:200980
Acrodysostosis With Multiple Hormone Resistance
Spinal canal stenosis, Cone-shaped epiphysis, Short metatarsal, Absent/hypoplastic paranasal sinu... ORPHA:280651
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Limb undergrowth, Rhizomelia, Abnormal... ORPHA:177
Achondroplasia
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... ORPHA:15
Microphthalmia With Limb Anomalies
Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Synostosis of join... ORPHA:1106
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubitus valgus, Ov... OMIM:617396
Weismann-Netter Syndrome
Fibular bowing, Horizontal sacrum, Lateral femoral bowing, Kyphosis, Anterior tibial bowing, Calv... OMIM:112350
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the elbow, Talipes, Abnorm... ORPHA:1842
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Mesomel... OMIM:300244
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Micrognathia, Absent radius, Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly ... OMIM:600123
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Abnormality of the knee, Synostosis of joints, Abnormality of tibia mor... ORPHA:2496
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shortening of limb... OMIM:300863
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... ORPHA:1508
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Pseudodiastrophic Dysplasia
Micrognathia, Talipes equinovarus, Tongue-like lumbar vertebral deformities, Failure to thrive, R... OMIM:264180
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Acrocephalopolydactyly
Limb undergrowth, Genu recurvatum, Short neck, Short long bone, Brachydactyly ORPHA:221054
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Tho... OMIM:113000
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Large for gestational age, Osteopenia, Ankle clonus, Hypoplasia of the ulna, Scoliosis OMIM:615398
Ollier Disease
Abnormality of the metaphysis, Platyspondyly, Osteolysis, Abnormal cartilage morphology, Joint st... ORPHA:296
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Absent radius, Aplasia of the 1st metacarpal, Hypo... ORPHA:1352
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Limb undergrowth, Joint contracture of the hand, Overlapping fingers, Camptodactyly, Micromelia OMIM:601016
Nievergelt Syndrome
Tarsal synostosis, Talipes equinovarus, Genu valgum, Mesomelia, Metatarsal synostosis, Radioulnar... OMIM:163400
Hyperphosphatasia With Mental Retardation Syndrome 6
2-3 toe syndactyly, Hip contracture, Vomiting, Shortening of all distal phalanges of the fingers,... OMIM:616809
Dyggve-Melchior-Clausen Disease
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar... OMIM:223800
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited elbow movement,... OMIM:218600
Odontochondrodysplasia
Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis, Platyspondyly, Sq... ORPHA:166272
Radial Ray Hypoplasia With Choanal Atresia
Small thenar eminence, Short thumb, Distally placed thumb, Hypoplasia of the radius OMIM:179270
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Alagille Syndrome
Micrognathia, Failure to thrive, Abnormal form of the vertebral bodies, Short distal phalanx of f... ORPHA:52
Osteogenesis Imperfecta, Type Ii
Tibial bowing, Broad long bones, Small for gestational age, Limb undergrowth, Multiple prenatal f... OMIM:166210
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Hammertoe, Abnormal vertebral morphology, Hypoplasia of... ORPHA:2319
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Delayed pubic bone ossification, Short ribs, Ab... ORPHA:93296
Multiple Sulfatase Deficiency
Broad thumb, Broad hallux, Hypoplastic vertebral bodies OMIM:272200
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Pes planus, Short ... OMIM:251450
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Blount Disease
Abnormality of the knee, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality... ORPHA:2768
Rhizomelic Syndrome, Urbach Type
Micrognathia, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Abnormality... ORPHA:3098
Postaxial Acrofacial Dysostosis
Abnormal foot morphology, Micrognathia, Congenital hip dislocation, Hypoplasia of the radius, Sup... OMIM:263750
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Short ph... OMIM:300106
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Micrognathia, Abnormality of femur morphology, Limb undergrowth, Abnormal form... ORPHA:3429
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Truncal obesity, Camptodactyly of finger, Abnormality of pelvic girdle... ORPHA:2928
Atelosteogenesis, Type Iii
Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip... OMIM:108721
Occipital Horn Syndrome
Short clavicles, Capitate-hamate fusion, Osteoporosis, Limited knee extension, Pes planus, Platys... OMIM:304150
Osteogenesis Imperfecta, Type Xvi
Small for gestational age, Rhizomelia, Osteopenia, Joint hypermobility, Vertebral compression fra... OMIM:616229
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 5th metacarpal, Thin bony cortex, Rhizomelia, Pes planus, Platyspondyly, Thoracic kyphosis,... OMIM:619638
Distal Trisomy 5Q
Micrognathia, Craniosynostosis, Hypoplasia of the radius, Absent thumb, Hypoplasia of the ulna, B... ORPHA:96097
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met... OMIM:208500
Rothmund-Thomson Syndrome
Aplasia/Hypoplasia of the patella, Vomiting, Small for gestational age, Aplasia/Hypoplasia of the... ORPHA:2909
Steinfeld Syndrome
Abnormality of the vertebral column, Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormal verteb... OMIM:184705
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Gastroesophageal reflux, Postaxial polydactyly OMIM:612913
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular... ORPHA:321
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Hypoplastic iliac wing, Glenoid fossa hypoplasia, Elongated femoral neck, Hip disl... OMIM:619345
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Platyspondylic Dysplasia, Torrance Type
Abnormality of the carpal bones, Genu varum, Hypoplastic scapulae, Bowing of the long bones, Plat... ORPHA:85166
Ulnar-Mammary Syndrome
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Obesity... OMIM:181450
Czech Dysplasia
Intervertebral space narrowing, Flat capital femoral epiphysis, Irregular vertebral endplates, Sh... OMIM:609162
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Osteop... OMIM:218330
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyphosis, Coxa va... OMIM:313400
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Broad palm, Small epiphyses, Hypoplasia of the odontoid process, Short finger, Metaphyseal cuppin... OMIM:300232
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Epiphyseal stippling, Hypop... OMIM:308050
Micromelic Bone Dysplasia With Cloverleaf Skull
Micromelia OMIM:156830
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Small epiphyses, Irregular vertebral endplates, Irregular carpal b... OMIM:226980
Congenital Insensitivity To Pain With Severe Intellectual Disability
Micrognathia, Tibial bowing, Rocker bottom foot, Small for gestational age, Congenital bilateral ... ORPHA:453510
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... ORPHA:474
Acrofacial Dysostosis, Palagonia Type
Cutaneous finger syndactyly, Short 4th metacarpal, Abnormal vertebral morphology, Spina bifida oc... OMIM:601829
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Irregular vertebral endplates, Avascular necrosis of the capital femoral ep... OMIM:184100
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Phocomelia, Schinzel Type
Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo... ORPHA:2879
Panner Disease
Irregular articular surfaces of the elbow joints, Abnormality of upper limb joint, Stiff elbow, L... ORPHA:97336
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Irregular epiphyses, Short finger, Metaphyseal widening, Rhizomelia, Platyspondyly, Mesomelia, Br... OMIM:612813
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Bowing of the legs, R... OMIM:600081
Meckel Syndrome, Type 9
Limb undergrowth, Talipes equinovarus OMIM:614209
Distal Monosomy 17Q
Aplasia/Hypoplasia of the thumb, Abnormal form of the vertebral bodies, Small hand, Upper limb as... ORPHA:1597
Ulbright-Hodes Syndrome
Fibular aplasia, Ovoid thoracolumbar vertebrae, Micrognathia, Abnormal forearm bone morphology, T... ORPHA:3404
Hypophosphatasia, Infantile
Short lower limbs, Decreased calvarial ossification, Vomiting, Bowing of the legs, Failure to thr... OMIM:241500
Acrofacial Dysostosis, Rodríguez Type
Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve... ORPHA:1788
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Micrognathia, Radial bowing, Vertebral wedg... OMIM:617866
Microgastria-Limb Reduction Defects Association
Hand oligodactyly, Phocomelia, Failure to thrive, Hypoplasia of the radius, Absent thumb, Hypopla... OMIM:156810
Hall-Riggs Syndrome
Abnormality of epiphysis morphology, Limb undergrowth, Failure to thrive, Abnormality of the meta... ORPHA:2107
Achondrogenesis Type 1A
Micrognathia, Short neck, Short foot, Short palm, Recurrent fractures, Micromelia, Abnormal encho... ORPHA:93299
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Beta-Mercaptolactate Cysteine Disulfiduria
Arachnodactyly, Genu valgum, Sandal gap, Obesity, Micromelia, Joint hyperflexibility ORPHA:1035
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Broad palm, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metap... ORPHA:2502
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, Foot polydac... ORPHA:3186
Occipital Horn Syndrome
Absent tibia, Rickets, Aplastic clavicle, Gastroparesis, Pes planus, Synostosis of joints, Osteom... ORPHA:198
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Short lower limbs, Micrognathia, Tibial bowing, Lower limb undergrowth OMIM:236640
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Absent frontal sinuses, Toe syndactyly, Absent e... OMIM:211910
Osteoglophonic Dysplasia
Broad metatarsal, Pseudoarthrosis, Broad palm, Hypoplastic scapulae, Failure to thrive, Short met... OMIM:166250
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Pes planus, Toe clinodactyly, Limit... ORPHA:457395
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Craniosynostosis, Single transverse palmar crease OMIM:218550
Hajdu-Cheney Syndrome
Absent frontal sinuses, Brachydactyly, Short toe, Micrognathia, Partial absence of toe, Bowing of... ORPHA:955
Achondrogenesis Type 1B
Micrognathia, Talipes equinovarus, Short foot, Short neck, Micromelia, Abnormal enchondral ossifi... ORPHA:93298
Larsen Syndrome
Spondylolysis, Knee dislocation, Talipes equinovarus, Multiple carpal ossification centers, Beaki... OMIM:150250
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Tibial bowing, Fibular bowing, Bowing of the legs, Metaphyseal irregularit... OMIM:307800
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Fanconi Anemia, Complementation Group O
Short thumb, Absent thumb, Hypoplasia of the radius OMIM:613390
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253000
Sponastrime Dysplasia
Abnormality of the vertebral column, Metaphyseal irregularity, Pes planus, Hip subluxation, Shall... ORPHA:93357
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short p... OMIM:274000
X-Linked Dominant Chondrodysplasia Punctata
Lower limb asymmetry, Talipes equinovarus, Epiphyseal stippling, Anterior rib punctate calcificat... ORPHA:35173
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Platyspondyly, Short neck, Joint stiffness, Flexion contracture, Femoral bowing, A... OMIM:245160
Kniest Dysplasia
Aplasia/hypoplasia of the extremities, Abnormal bone structure, Short long bone, Laryngotracheoma... ORPHA:485
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Monkey wrench femoral neck, 2-3 toe syndactyly, Single transverse palmar crease, Butterfly verteb... OMIM:618870
Image Syndrome
Metaphyseal dysplasia, Micromelia ORPHA:85173
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly OMIM:619479
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Small for gestational age, Dysplastic sacrum, Short ribs, Iliac crest serrat... OMIM:613320
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Aplasia/hypopl... OMIM:276820
Hypertrichosis Cubiti
Rhizomelia, Micromelia, Joint hyperflexibility, Abnormality of the elbow ORPHA:2220
Diamond-Blackfan Anemia 1
Bifid thoracic vertebrae, Micrognathia, Triphalangeal thumb, Failure to thrive, Hypoplastic sacra... OMIM:105650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
C Syndrome
Toe syndactyly, Micrognathia, Ulnar deviation of finger, Limb undergrowth, Failure to thrive, Fus... OMIM:211750
Geroderma Osteodysplasticum
Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Beaking of vertebral bo... OMIM:231070
Cousin Syndrome
Fibular aplasia, Toe syndactyly, 2-3 toe syndactyly, Micrognathia, 4-5 toe syndactyly, Talipes eq... OMIM:260660
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ... OMIM:617925
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Multiple prenatal fractures, Type 1 collagen overmodification, Oste... OMIM:610915
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Al-Gazali Syndrome
Micrognathia, Failure to thrive, Broad distal phalanx of finger, Wrist flexion contracture, Osteo... OMIM:609465
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253010
Achondrogenesis
Micrognathia, Abnormality of bone mineral density, Short neck, Micromelia, Abnormal enchondral os... ORPHA:932
Thanatophoric Dysplasia, Glasgow Variant
Micromelia OMIM:273680
Microphthalmia, Syndromic 3
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Vertebral hypoplasia OMIM:206900
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Broad long bones, Talipes equinovarus, Bowing of the legs, Limb undergrowth, Short ... ORPHA:1865
Osteogenesis Imperfecta, Type Xiv
Increased susceptibility to fractures, Osteopenia, Femoral bowing, Recurrent fractures, Scoliosis OMIM:615066
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, Vomiting, Failure to thrive, Flexion contracture, Short humerus, Short femur, Gastro... ORPHA:17
Ruvalcaba Syndrome
Cone-shaped epiphysis, Abnormality of the elbow, Small hand, Proximal placement of thumb, Synosto... ORPHA:3121
Pelvis-Shoulder Dysplasia
Micrognathia, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protruding c... ORPHA:2839
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Micrognathia, Tibial bowing, Multip... OMIM:259420
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Congenital Varicella Syndrome
Micromelia ORPHA:291
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Synovitis, Atlantoaxial abnormality, Failure to thrive, Long fingers, Kyphosc... ORPHA:3455
Brachyolmia Type 3
Proximal femoral metaphyseal irregularity, Platyspondyly, Kyphosis, Radial deviation of finger, S... OMIM:113500
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Micromelia, Short ribs, Hypoplastic ilia OMIM:600972
Ivic Syndrome
Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of the radius, Sho... ORPHA:2307
Cerebrocostomandibular Syndrome
Micrognathia, Congenital hip dislocation, Calcaneal epiphyseal stippling, 11 pairs of ribs, Scoli... OMIM:117650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Short ribs, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydactyl... OMIM:617895
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Bowing of the legs, R... OMIM:241530
Sc phocomelia syndrome
Micrognathia, Hip contracture, Phocomelia, Aplasia of the ulna, Knee flexion contracture, Absent ... OMIM:269000
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Tibial Hemimelia
Absent tibia OMIM:275220
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn... OMIM:263520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Short metacarpal, Brachydactyly, Short humerus ORPHA:508542
Infantile Systemic Hyalinosis
Failure to thrive, Increased susceptibility to fractures, Osteoporosis, Osteopenia, Chronic diarr... ORPHA:2176
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Thanatophoric Dysplasia
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Abnormality of the metaphysis, P... ORPHA:2655
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Absent thumb, Bowed forearm bones, Absent radius OMIM:602200
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, E... OMIM:224400
Seckel Syndrome 1
Micrognathia, Single transverse palmar crease, Ivory epiphyses, Talipes, Dislocated radial head, ... OMIM:210600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Mesomelia, Broad thumb, Short neck, Lumbar hyperlordosis, Brachydactyly, Joint laxity ORPHA:171866
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Kyphoscoliosis, Partial duplication of the phalanx of hand, Sacral dimple, Short di... OMIM:616331
Spondyloepiphyseal Dysplasia Congenita
Talipes equinovarus, Delayed calcaneal ossification, Limitation of knee mobility, Atlantoaxial in... OMIM:183900
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Osteopenia, Femoral bowing, Recurrent fractures, Scoliosis OMIM:126550
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Bowing of the legs, R... OMIM:300554
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Biconcave vertebral bodies, Genu varum, Flat capital femoral epiphysis, Laryngotracheomalacia, Ky... OMIM:271510
4Q21 Microdeletion Syndrome
Toe syndactyly, Small hand, Kyphosis, Short foot, Short palm, Scoliosis, Short neck, Micromelia ORPHA:238750
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short metatarsal, Short ribs, Broad hallux, Bulbous tips of toes, F... OMIM:304120
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Metatarsus adductus, 2-3 toe syndactyly, 4-5 toe syndactyly, Lumbar kyphosis in infancy, Patellar... ORPHA:3041
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Holt-Oram Syndrome
Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,... ORPHA:392
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of th... OMIM:264700
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Micrognathia, Limb undergrowth, Osteopenia, Wide anterior fontanel, Short toe, Short phalanx of f... OMIM:225410
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Metacarpal sy... OMIM:600383
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Mesomelic leg shortening, Polysyndactyly of... ORPHA:2751
Chondrodysplasia-Disorder Of Sex Development Syndrome
Broad long bones, Increased skull ossification, Short metacarpal, Abnormality of pelvic girdle bo... ORPHA:1422
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Dysphagia, Failure to thrive, Large hands, Long fingers, Long foot, Long toe, Flexi... OMIM:264090
Nager Syndrome
Micrognathia, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormality of th... ORPHA:245
Becker Nevus Syndrome
Lower limb asymmetry, Upper limb asymmetry, Spina bifida occulta, Kyphosis, Scoliosis, Abnormalit... ORPHA:64755
Bruck Syndrome 2
Talipes equinovarus, Increased susceptibility to fractures, Platyspondyly, Knee flexion contractu... OMIM:609220
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Micrognathia, Abnormality of the ulna, Triphalangeal thumb, Abnorm... ORPHA:84
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Tracheobronchomalacia, Talipes equ... ORPHA:140
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia, Madelung deformity ORPHA:1765
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f... OMIM:206920
Vitamin D-Dependent Rickets, Type 2A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of th... OMIM:277440
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Micrognathia, Thin bony cortex, Bowing of the long bones, Joint laxit... OMIM:617952
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Cone-shaped epiphysis, Small for gestational age, Failure to thrive, Short metatarsal, Rhizomelia... OMIM:614813
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Craniosynostosis, Split hand, Finger syndactyly, Micromelia, Brachydactyly ORPHA:2145
Pycnodysostosis
Increased bone mineral density, Spondylolysis, Micrognathia, Generalized osteosclerosis, Kyphosis... ORPHA:763
Developmental Malformations-Deafness-Dystonia Syndrome
Dysphagia, Hypoplastic scapulae, Externally rotated hips, Kyphosis, Achalasia, Scoliosis, Micromelia ORPHA:79107
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Hyp... OMIM:210720
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Recurrent fractures, Micromelia, Joint hyperflexibility ORPHA:2772
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Broad ischia, Increased intervertebral space, Cervical spinal canal st... ORPHA:508533
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Micrognathia, Talipes equinovarus, Talipes, Broad distal phalanx of finger, Pes planus, Joint hyp... OMIM:300990
Fanconi Anemia, Complementation Group I
Hypoplasia of the radius, Fused cervical vertebrae, Short neck, Short 1st metacarpal, Short thumb... OMIM:609053
Osteogenesis Imperfecta, Type X
Micrognathia, Bowing of the long bones, Generalized joint laxity, Platyspondyly, Osteopenia, Genu... OMIM:613848
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Limited elbow extension, Abnormalit... ORPHA:175
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Metaphyseal widening, Joint hypermobil... OMIM:250250
Pallister-Hall-Like Syndrome
Micrognathia, Short ribs, Hip dislocation, Postaxial hand polydactyly, Micromelia OMIM:241800
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Thanatophoric Dysplasia Type 2
Abnormality of the metaphysis, Platyspondyly, Kyphosis, Brachydactyly, Limitation of joint mobili... ORPHA:93274
Tarp Syndrome
Micrognathia, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Hypoplasia of the ra... OMIM:311900
Boomerang Dysplasia
Fibular aplasia, Hypoplastic iliac body, Absent radius OMIM:112310
Mucopolysaccharidosis, Type Vi
Anterior wedging of L1, Hypoplastic iliac wing, Metaphyseal widening, Flared iliac wing, Hypoplas... OMIM:253200
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Abnormality of the metaphysis ORPHA:1861
Spondyloepimetaphyseal Dysplasia, Krakow Type
Irregular epiphyses, 2-3 toe syndactyly, Constipation, Rhizomelia, Metaphyseal irregularity, Knee... OMIM:618162
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl... OMIM:154400
Cardioacrofacial Dysplasia 2
Recurrent patellar dislocation, Limb undergrowth, Clubbing, Genu valgum, Postaxial foot polydacty... OMIM:619143
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
Spondylocarpotarsal Synostosis Syndrome
Talipes equinovarus, Capitate-hamate fusion, Epiphyseal dysplasia, Pes planus, C2-C3 subluxation,... OMIM:272460
Blomstrand Lethal Chondrodysplasia
Micrognathia, Abnormality of epiphysis morphology, Bowing of the long bones, Rhizomelia, Aplastic... ORPHA:50945
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ... OMIM:601027
Fanconi Anemia, Complementation Group W
Abnormality of radial ray, Absent thumb, Hypoplasia of the radius OMIM:617784
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Mesomelia, Camptodactyly, Broad thumb, Clinodactyly, Brachydactyly OMIM:618529
Gm1 Gangliosidosis
Dysphagia, Abnormality of epiphysis morphology, Limb undergrowth, Weight loss, Failure to thrive,... ORPHA:354
Neural Tube Defects, Susceptibility To
Sacral dimple, Spina bifida occulta, Absence of the sacrum, Asymmetry of spinal facet joints OMIM:182940
Radio-Renal Syndrome
Micrognathia, Abnormality of the elbow, Abnormal form of the vertebral bodies, Hypoplasia of the ... ORPHA:3015
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Syndactyly, Short neck, Micromelia, Brachydactyly, Single transverse palmar crease OMIM:614800
Aarskog-Scott Syndrome
Broad palm, Failure to thrive, Joint laxity, Pes planus, Short 5th finger, Radial deviation of fi... OMIM:305400
Microcephalic Primordial Dwarfism, Dauber Type
Limb undergrowth, Short middle phalanx of the 5th finger, Hip dysplasia, Obesity, Clinodactyly of... ORPHA:319675
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Pes planus, Pathologic fracture, 11 pai... OMIM:271640
Dysostosis, Stanescu Type
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormality of the metaphysis, Kyp... ORPHA:1798
Satoyoshi Syndrome
Genu varum, Abnormality of femur morphology, Abnormality of the knee, Tapered finger, Abnormality... ORPHA:3130
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Micrognathia, Failure to thrive, Long fingers, Dislocated radial head, Congenital hip dislocation... OMIM:619512
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Rhizomelia, Platyspondyly, Kyphosis, Wide anterior fontanel, Mesomelia, Gastroesophageal reflux, ... OMIM:616482
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Absent thumb, Bowed humerus, Bilateral talipes equinovarus... OMIM:618022
Autosomal Recessive Hypophosphatemic Rickets
Spinal canal stenosis, Genu varum, Tibial bowing, Lower limb asymmetry, Enlargement of the wrists... ORPHA:289176
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Talipes equinovarus, Phocomelia, Aplasia of the ulna, Short ribs, ... OMIM:266910
Alagille Syndrome 1
Hemivertebrae, Failure to thrive, Short distal phalanx of finger, Butterfly vertebral arch, Hypop... OMIM:118450
Pyknoachondrogenesis
Poorly ossified vertebrae, Short iliac bones, Aplastic pubic bones, Short ribs, Unossified sacrum... ORPHA:3003
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the long bones, Short ribs, S... OMIM:614091
Fibrochondrogenesis
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Short... ORPHA:2021
Dent Disease 1
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Bowing of the legs, R... OMIM:300009
Acrofrontofacionasal Dysostosis
Abnormality of epiphysis morphology, Short distal phalanx of finger, Camptodactyly of finger, Bro... ORPHA:1784
Pyruvate Dehydrogenase E1-Alpha Deficiency