Registered for phenotyping at IMPC

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

Gene Summary

Name:
cystathionine beta-synthase
Synonyms:
HIP4

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 Cbs 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 Cbs by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Osteoporosis, Methioninuria, Arachnodactyly, Scoliosis,... OMIM:236200
Classic Homocystinuria
Kyphosis, Joint stiffness, Recurrent fractures, Osteoporosis, Arachnodactyly, Scoliosis, Genu valgum ORPHA:394

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Rhizomelic Dysplasia, Ain-Naz Type
Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... OMIM:619598
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Short hallux, Shor... ORPHA:93388
Diastrophic Dysplasia
Irregular epiphyses, Flattened epiphysis, Cervical kyphosis, Neonatal short-limb short stature, D... OMIM:222600
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Failure to thrive, Short humerus, Disproportionate short-limb s... OMIM:600121
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... OMIM:601376
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:1856
Multiple Epiphyseal Dysplasia With Robin Phenotype
Fibular hypoplasia, Micrognathia, Scoliosis, Genu valgum, Brachydactyly, Flat capital femoral epi... OMIM:601560
Spinal Dysplasia, Anhalt Type
Narrow anterio-posterior vertebral body diameter, Thoracolumbar scoliosis, Osteoarthritis of the ... OMIM:601344
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Hypoplasia of the ulna, Valgus hand deformity, Flexion contracture, Fi... OMIM:200700
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Ovoid vertebral bodies, Short femoral neck, Hypoplasia of t... OMIM:184255
Dysspondyloenchondromatosis
Multiple enchondromatosis, Abnormality of ulnar metaphysis, Abnormality of fibula morphology, Gen... ORPHA:85198
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Coronal cleft vertebrae, Short 4th metacarpal, Epiphyseal stippling, Micromelia, Short tibia, Lim... OMIM:118651
Spondylometaphyseal Dysplasia, East African Type
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... OMIM:611702
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Broad hallux, Arachnodactyly, Long hallux, Scoliosis, Finger clinodactyly, Epiphyseal... OMIM:615923
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Short metacarpal, Rhizomelia, Platyspondyly, Short humerus, Deformed humeral heads... OMIM:601438
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Abnormality of the ver... OMIM:112910
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Fibular hypoplasia, Scoliosis, Short tibia, Short toe, Abnormal... OMIM:127300
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Coronal cleft vertebrae, Pes planus, Micrognathia, Disproportionate short stature, Scoliosis, Gen... OMIM:618363
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Subretinal exudate, Intraretinal exudate, Retinal hole, Retinal deta... OMIM:305390
Metaphyseal Acroscyphodysplasia
Genu varum, Cone-shaped metacarpal epiphyses, Severe short stature, Micromelia, Scoliosis, Short ... OMIM:250215
Spondyloepiphyseal Dysplasia, Stanescu Type
Coxa valga, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Kyphoscoliosis, Stiff ne... OMIM:616583
Central Retinal Vein Occlusion
Cystoid macular edema, Retinal neovascularization, Papilledema, Intraretinal hemorrhage, Pigmenta... ORPHA:411527
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Short stature, Abnormality of the metaphysis, Kyphosco... ORPHA:93304
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femoral neck, Dislocated radi... OMIM:618395
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Finger syndactyly, Abnormality of femur morphology, Micromelia, Short st... ORPHA:2019
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Precocious costochondral ossification, Short neck, Short femoral neck, I... OMIM:271630
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... OMIM:602557
Brachyolmia Type 1, Hobaek Type
Short neck, Kyphosis, Short femoral neck, Intervertebral space narrowing, Osteopenia, Disproporti... OMIM:271530
Spondyloepiphyseal Dysplasia Tarda
Increased arm span, Disproportionate short-trunk short stature, Abnormality of the tibial plateau... ORPHA:93284
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the vertebral column, Abnormal ilium morphology, Severe short stature, Disproporti... ORPHA:93316
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Abnormality of the first metatarsal bone, Clinodactyly of the 5t... OMIM:135100
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Rhizomelic Chondrodysplasia Punctata, Type 5
Narrow iliac wing, Metaphyseal irregularity, Thoracic scoliosis, Irregular capital femoral epiphy... OMIM:616716
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Narrow iliac wing, Slender finger, Flattened epiphysis, Metaphyseal irregularity, Proportionate s... OMIM:601668
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormality of pelvic girdle bone morphology, Flexion contracture, Osteopenia, Rhizomelia, Microg... OMIM:222765
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Single transverse palmar crease, Shortening of all middle ... OMIM:201250
Rhizomelic Dysplasia, Patterson-Lowry Type
Brachydactyly, Abnormal form of the vertebral bodies, Deviation of finger, Short metacarpal, Rhiz... ORPHA:2831
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... OMIM:618728
Mental Retardation Syndrome, Mietens-Weber Type
Severe postnatal growth retardation, Dislocated radial head, Pes planus, Absent proximal radial e... OMIM:249600
Spondyloperipheral Dysplasia
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... OMIM:271700
Lethal Kniest-Like Dysplasia
Brachydactyly, Coronal cleft vertebrae, Short neck, Hypoplastic vertebral bodies, Short ribs, Pla... ORPHA:2347
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Short stature, Kyphoscoliosis, Cutaneous finger syndactyly, Duplicatio... OMIM:600384
Vitreoretinopathy, Neovascular Inflammatory
Large hyperpigmented retinal spots, Vitreoretinopathy, Retinal detachment, Posterior retinal neov... OMIM:193235
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Aase-Smith Syndrome
Slender finger, Abnormal hip bone morphology, Joint stiffness, Multiple joint contractures, Scoli... ORPHA:916
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Eales Disease
Subhyaloid hemorrhage, Vitritis, Epistaxis, Iris neovascularization, Retinal vasculitis, Retinal ... ORPHA:40923
Pseudoachondroplasia
Genu varum, Cone-shaped epiphysis, Generalized joint laxity, Scoliosis, Abnormality of femoral ep... ORPHA:750
Gurrieri Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Short sta... OMIM:601187
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Small for gestational age, Failure to thrive, Arthrogryposis multiplex congenita, Kyphoscoliosis,... OMIM:212540
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Brachydactyly, Bowing of the legs, Platyspondyly, Lower limb undergrowth, Short stature, Irregula... OMIM:612847
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Micrognathia, Scoliosis, Hip dysplasia, Hip dislocation, Abnormality of epiphysis morphology, Abn... ORPHA:93359
Patterson Pseudoleprechaunism Syndrome
Ovoid thoracolumbar vertebrae, Small cervical vertebral bodies, Long foot, Talipes valgus, Irregu... OMIM:169170
Retinal Venous Beading
Saccular conjunctival dilatations, Retinal neovascularization, Abnormal distribution of retinal a... OMIM:180080
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Neonatal short-limb short stature, Hypoplasia of the radius, Pseudoarthrosis, Mesomelic short sta... OMIM:156230
Richieri Costa-Da Silva Syndrome
Decreased anterioposterior diameter of lumbar vertebral bodies, Generalized bone demineralization... ORPHA:3101
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Camptodactyly With Fibrous Tissue Hyperplasia And Skeletal Dysplasia
Hammertoe, Arachnodactyly, Scoliosis, Camptodactyly, Joint contracture of the hand OMIM:211930
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Intrauterine growth retardation, Fibular hypoplasia, Radial club hand, Sa... ORPHA:1972
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Short femoral neck, Flared femoral metaphysis, Broad femoral ne... OMIM:609324
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foo... ORPHA:75508
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint stiffness, ... OMIM:208230
Opsismodysplasia
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Joint stiffness, Abnormality of epiphy... ORPHA:2746
Holoprosencephaly, Semilobar, With Craniosynostosis
Lambdoidal craniosynostosis, Coxa valga, Coronal craniosynostosis, Hypoplastic vertebral bodies, ... OMIM:601370
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hypoplastic ischia, Thoracic kyphosis, Short neck, Hypoplastic sacrum, Short femoral neck, Cone-s... OMIM:304950
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Scoliosis, Narr... OMIM:184252
Symbrachydactyly Of Hands And Feet
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... ORPHA:1570
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Holt-Oram Syndrome
Absent thumb, Small thenar eminence, Thoracic scoliosis, Hypoplasia of the ulna, Phocomelia, Abse... OMIM:142900
Hypochondroplasia
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Flared metaphysis, Lumba... OMIM:146000
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Retina... OMIM:193220
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Talipes, Joint stiffness, Severe short stature, Hypoplasia of the radius,... ORPHA:2249
Omodysplasia 2
Dislocated radial head, Rhizomelic arm shortening, Limited elbow flexion, Short humerus, Short 1s... OMIM:164745
Axial Spondylometaphyseal Dysplasia
Acromesomelia, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasi... ORPHA:168549
Parastremmatic Dwarfism
Short neck, Kyphosis, Flexion contracture, Severe short stature, Scoliosis, Genu valgum OMIM:168400
Metatropic Dysplasia
Abnormal cortical bone morphology, Kyphosis, Abnormal form of the vertebral bodies, Abnormal ench... ORPHA:2635
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Dela... ORPHA:93307
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Decreased fibular diameter, Arachnodactyly, Long fingers, Short stature, Po... OMIM:619489
Epiphyseal Dysplasia, Multiple, 7
Advanced ossification of carpal bones, Genu varum, Short femoral neck, Vertebral wedging, Mild sh... OMIM:617719
Dysosteosclerosis
Increased bone mineral density, Hypoplastic vertebral bodies, Recurrent fractures, Craniofacial h... ORPHA:1782
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Synostosis of carpal bones, Abnormality of the ulna, Hypoplasia of the ulna, Fibular hypoplasia, ... ORPHA:2634
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... ORPHA:93352
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Talipes, Single transverse palmar crease, Small for gestational age, Fibu... OMIM:227270
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Avascular necrosis of the capital femoral epiphysis, Ovoid vertebral bodies,... OMIM:132400
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydactyly, Hypopla... OMIM:263540
Dysosteosclerosis
Narrow iliac wing, Absent paranasal sinuses, Hypoplastic vertebral bodies, Sclerosis of hand bone... OMIM:224300
Intellectual Developmental Disorder, Autosomal Dominant 62
Pes planus, Joint laxity, Increased arm span, Arachnodactyly, Scoliosis OMIM:618793
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Phocomelia, Absent radius, Fibular hypoplasia, Aplasia/Hypoplas... OMIM:171480
Epiphyseal Dysplasia, Multiple, 4
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... OMIM:226900
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Disproportionate short-trunk short stature, Micrognathia, Scoliosis, Genu valgum, A... ORPHA:94068
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limitation of knee mobility, Limited elbow movement OMIM:276821
Eiken Syndrome
Abnormal trabecular bone morphology, Fibular hypoplasia, Broad palm, Abnormal bone ossification, ... ORPHA:79106
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormal distal phalanx morphology of fin... ORPHA:2725
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Generalized joint laxity, Scoliosis, Fragmented epiphyses, Genu valgum, Abnormal meta... ORPHA:93360
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormality of the ulna, Joint stiffness, Abnormality of ulnar metaphys... ORPHA:1040
Tibial Torsion, Bilateral Medial
Tibial torsion, Bowing of the legs, Scoliosis, Abnormality of tibia morphology OMIM:188800
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Short stature, Postaxial hand polydactyly, Short humerus, Aplasia/Hypoplasia of the u... ORPHA:2491
Atelosteogenesis, Type I
Coronal cleft vertebrae, Vertebral hypoplasia, Talipes, Thoracic platyspondyly, 11 pairs of ribs,... OMIM:108720
Retinopathy, Pigmentary, And Mental Retardation
Moderately short stature, Truncal obesity, Arachnodactyly, Narrow palm, Scoliosis, Joint hypermob... OMIM:268050
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Abnormal morpholo... ORPHA:93323
Opsismodysplasia
Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short palm, Hypoplastic vertebral bodies,... OMIM:258480
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly OMIM:314360
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Thoracic kyphosis, Long toe, Pes planus, Arachnodactyly, Large hands OMIM:300263
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Joint stiffness, Arachnodactyly, Scoliosis, Bilateral single transverse palmar creases ORPHA:1548
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Flat capital femoral epiphysis, Flattened epiphysis, Moderately short stature, Osteopenia, Joint ... OMIM:612350
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the radius, Distal ulnar hypoplasia, Meso... OMIM:191440
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Increased bone mineral density, Dislocated radial head, Osteoporosis, Plat... OMIM:614856
Haim-Munk Syndrome
Pes planus, Arachnodactyly, Tapering pointed ends of distal finger phalanges, Osteolytic defects ... OMIM:245010
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Broad hallux, Atlantoaxial abnormality, Short stature, Broad thumb, Kyphoscoliosis, Hypermobility... ORPHA:3433
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Metaphyseal Dysplasia Without Hypotrichosis
Genu varum, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Short long bo... OMIM:250460
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Osteoporosis, Growth delay, Short stature, Failure to thrive, Metaphyseal dysplasia... OMIM:614727
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Clinodactyly, Vertebral hypoplasia, Disproportionate short-trunk short stature, Abnor... ORPHA:93315
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Bowing of the long bones, Acromesomelia, Ovoid vertebral bodies, Kyphosis, Abnorma... ORPHA:40
Ulna And Fibula, Hypoplasia Of
Neonatal short-limb short stature, Disproportionate short-limb short stature, Hypoplasia of the u... OMIM:191400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Short stature, Short tibia, Short femur... OMIM:612447
Acromesomelic Dysplasia 3
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... OMIM:609441
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short neck, Short femoral neck, Short ribs, Rhizomelia, Scoliosis... OMIM:610319
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Severe short stature, Broad femoral neck, Disproportionate s... ORPHA:99642
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the fibula, Clinodactyly of the 5t... ORPHA:2141
Metaphyseal Anadysplasia 2
Metaphyseal widening, Bowing of the legs, Metaphyseal irregularity, Short femoral neck OMIM:613073
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Flat capital femoral epiphysis, Wide capital femoral epiphyses, Patellar hypoplasia, Pes planus, ... OMIM:147891
Acheiropodia
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... ORPHA:931
Spondylometaphyseal Dysplasia, Algerian Type
Carpal bone hypoplasia, Hypoplasia of proximal radius, Short long bone, Short greater sciatic not... OMIM:184253
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Short stature, Limb undergrowth, Massively thickened long bone cortice... OMIM:122900
Diastrophic Dysplasia
Micrognathia, Micromelia, Scoliosis, Hip dysplasia, Bowing of the long bones, Intrauterine growth... ORPHA:628
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Greenberg Dysplasia
Talipes, Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Broad palm,... OMIM:215140
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flat capital femoral epiphysis, Flattened epiphysis, Absent palmar crease, Moderately short statu... ORPHA:157965
Acheiropody
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Split foot, Aplasia/Hypoplasia of the radius ORPHA:1122
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplastic vertebral bodies, Broad palm, Narrow vertebral interpedicular distance, Scoliosis, Sp... OMIM:101800
Multiple Synostoses Syndrome 1
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... OMIM:186500
Tibial Aplasia-Ectrodactyly Syndrome
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... ORPHA:3329
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Kniest-Like Dysplasia, Lethal
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... OMIM:245190
Acrodysostosis
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Abnormal form of the vertebral bo... ORPHA:950
Pierre Robin Sequence With Facial And Digital Anomalies
Clinodactyly of the 5th finger, Tapered finger, Micrognathia, Short distal phalanx of finger, Eas... OMIM:311895
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly, Elevated transferrin sa... OMIM:613313
Progressive Pseudorheumatoid Arthropathy Of Childhood
Genu varum, Generalized osteoporosis, Abnormal ilium morphology, Irregularity of vertebral bodies... ORPHA:1159
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Arachnodactyly, Short stature, Joint stiffness, Cachexia ORPHA:1144
Aminopterin Syndrome Sine Aminopterin
Brachydactyly, Clinodactyly, Thoracic scoliosis, Decreased body weight, Intrauterine growth retar... OMIM:600325
Ulnar Hemimelia
Carpal synostosis, Curved toe phalanx, Radial club hand, Short forearm, Scoliosis, Aplasia of met... ORPHA:93320
Plin1-Related Familial Partial Lipodystrophy
Abnormal circulating hormone concentration, Infertility, Hepatic steatosis, Hyperinsulinemia, Pol... ORPHA:280356
Holoprosencephaly-Craniosynostosis Syndrome
Brachydactyly, Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5t... ORPHA:2163
Cono-Spondylar Dysplasia
Brachydactyly, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Scoliosi... ORPHA:420794
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... OMIM:609052
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Distal ulnar hypoplasia, Micrognathia OMIM:277150
Chst3-Related Skeletal Dysplasia
Brachydactyly, Irregular epiphyses, Flexion contracture, Abnormal form of the vertebral bodies, I... ORPHA:263463
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Delayed ossification of carpal bones, Pes planus, Hypoplastic iliac wing, Scoliosis, Mesomelic ar... OMIM:609616
Rhizomelic Chondrodysplasia Punctata, Type 1
Coronal cleft vertebrae, Flexion contracture, Rhizomelia, Epiphyseal stippling, Severe short stat... OMIM:215100
Ulnar/Fibular Ray Defect And Brachydactyly
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... OMIM:608571
Femoral-Facial Syndrome
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... ORPHA:1988
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Clinodactyly of the 5th finger, Short thumb, Short stature, Camptodactyly, Overlapping toe OMIM:618453
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Pes planus, Tapered finger, Obesity, Pes cavus, Short foot OMIM:309585
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae OMIM:616566
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process, Postaxial polydactyly OMIM:612913
Cerebrooculofacioskeletal Syndrome 1
Coxa valga, Elbow flexion contracture, Second metatarsal posteriorly placed, Rocker bottom foot, ... OMIM:214150
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Generalized joint laxity... OMIM:609325
Atelosteogenesis Type Ii
Cervical kyphosis, Sandal gap, Rhizomelic arm shortening, Micrognathia, Micromelia, Ulnar deviati... ORPHA:56304
Mueller-Weiss Syndrome
Limitation of movement at ankles, Fragmented, irregular epiphyses, Joint stiffness, Sclerosis of ... ORPHA:566943
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Ivic Syndrome
Absent thumb, Small thenar eminence, Carpal synostosis, Hypoplasia of the ulna, Limited interphal... OMIM:147750
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
3M Syndrome
Hypoplastic ischia, Hypoplastic pubic bone, Hypoplasia of the ulna, Short neck, Kyphosis, Increas... ORPHA:2616
Maternal Uniparental Disomy Of Chromosome 9
Hamstring contractures, Short neck, Intrauterine growth retardation, Abnormal vertebral morpholog... ORPHA:96183
Metaphyseal Chondrodysplasia, Spahr Type
Bowing of the long bones, Genu varum, Abnormality of epiphysis morphology, Progressive leg bowing... ORPHA:2501
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Metaphyseal irregularity, Premature osteoarthritis, Delayed ossification of ... OMIM:607078
Spastic Paraplegia 20, Autosomal Recessive
Brachydactyly, Clinodactyly, Flexion contracture, Hammertoe, Hyperextensible hand joints, Pes cav... OMIM:275900
Atelosteogenesis Type Iii
Coronal cleft vertebrae, Vertebral hypoplasia, Epiphyseal stippling of the humerus, Micrognathia,... ORPHA:56305
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Cerebrooculofacioskeletal Syndrome 4
Abnormality of the vertebral column, Decreased body weight, Intrauterine growth retardation, Fail... OMIM:610758
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive
Severe short stature, Abnormal foot morphology, Tapered finger, Abnormality of the lower limb, Sc... OMIM:220600
Congenital Disorder Of Glycosylation, Type Ig
Small for gestational age, Short ribs, Sandal gap, Rhizomelia, Hypoplasia of the radius, Failure ... OMIM:607143
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Pes planus, Clinodactyly of the 5th finger, Cone-shaped epiphysis, ... ORPHA:457395
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Shortening of all distal phalanges of the fingers, Epiphyseal stippling, ... OMIM:619135
Acromegaloid Facial Appearance Syndrome
Large for gestational age, Tapered finger, Large hands OMIM:102150
Multiple Epiphyseal Dysplasia, Lowry Type
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Micro... ORPHA:166016
Infantile Liver Failure Syndrome 3
Abnormality of the epiphysis of the femoral head, Hypoplastic vertebral bodies, Beaking of verteb... OMIM:618641
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Short palm, Short metacarpal, Upper limb undergrowth, Broad femoral neck, Bro... OMIM:271650
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Growth... ORPHA:52056
Shox-Related Short Stature
Short neck, Ulnar radial head dislocation, Tibial bowing, Obesity, Micrognathia, Madelung deformi... ORPHA:314795
Mietens Syndrome
Hypoplasia of the ulna, Coxa valga, Talipes, Joint stiffness, Severe short stature, Clinodactyly ... ORPHA:2557
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Finger syndactyly, Short neck, Triphalangeal thumb, Arachnodactyly, Short distal phalanx of finge... ORPHA:2994
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the ulna, Hypoplasia of the radius OMIM:107900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Short neck, Cervical subluxation, Hypoplasia of the odontoid process, Childhood-onset short-trunk... OMIM:184100
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Finger syndactyly, Aplasia... ORPHA:2256
Myopathic Ehlers-Danlos Syndrome
Pes planus, Tapered finger, Micrognathia, Scoliosis, Patellar subluxation, Flexion contracture, C... ORPHA:536516
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic platyspondyly, Metaphyseal spurs, Low back pain, Pedal edema, Arthralgia of the hip, Gen... ORPHA:166011
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Flat capital femoral epiphysis, Genu varum, Thoracic kyphosis, Decreased hip abduction, Intervert... OMIM:609223
Scholte Syndrome
Acromicria, Patellar hypoplasia, Small hand, Kyphoscoliosis, Short foot OMIM:300977
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Kyphomelic Dysplasia
Short metacarpal, Tibial bowing, Dumbbell-shaped humerus, Platyspondyly, Micrognathia, Flared met... OMIM:211350
Hyperekplexia 4
Distal arthrogryposis, Flexion contracture, Adducted thumb, Talipes equinovarus, Kyphoscoliosis, ... OMIM:618011
Acrofacial Dysostosis Syndrome Of Rodriguez
Clinodactyly, Single transverse palmar crease, Fibular hypoplasia, 11 pairs of ribs, Triphalangea... OMIM:201170
Myotonia With Skeletal Abnormalities And Mental Retardation
Vertebral wedging, Irregular femoral epiphysis, Short stature, Kyphoscoliosis, Genu valgum OMIM:255710
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Joint laxity, Kyphosis OMIM:248760
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Arachnodactyly, Joint laxity, Thoracic kyphosis ORPHA:2172
Schneckenbecken Dysplasia
Short neck, Advanced tarsal ossification, Hypoplastic vertebral bodies, Fibular hypoplasia, Abnor... ORPHA:3144
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Slender finger, Pes planus, Sandal gap, Clinodactyly of the 5th finger, Broad hallux, Micrognathi... OMIM:617755
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Pe... ORPHA:93356
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Abnormal foot morphology, Short stature, Fibular aplasia, Short tibia, Ta... OMIM:605274
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... OMIM:608728
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Flexion contracture, Scapulohumeral synostosis, Dislocated radial head, Rhizomelia, Hypoplastic s... OMIM:602471
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevated circulating creatinine co... ORPHA:247691
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Severe short stature, Tapered finger, Thoracolumbar scoliosis, Sclerosis of skull base,... OMIM:313420
Ck Syndrome
Long toe, Slender build, Joint hypermobility, Lumbar hyperlordosis, Long fingers, Microretrognath... ORPHA:251383
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Arachnodactyly, Adducted thumb, Scoliosis, Joint hyperflexibility ORPHA:2181
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Ectrodac... ORPHA:2878
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Pes valgus, Increased laxity of fingers, Short neck, Kyphosis, Long toe, Flexion ... ORPHA:75840
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Slender finger, Kyphosis, Clinodactyly of the 5th finger, Abnormal foot morphology, Obesity, Scol... OMIM:618443
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Kyphosis, Increased bone mineral density, Osteopenia, Recurrent fractur... OMIM:239000
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Flattened epiphysis, Thoracic kyphosis, Coxa valga, Short neck, Ovoid vertebral b... ORPHA:163649
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Syndactyly OMIM:212780
Pelviscapular Dysplasia
Brachydactyly, Abnormality of the joint spaces of the elbow, Short neck, Congenital hip dislocati... ORPHA:93333
Orofaciodigital Syndrome Viii
Short stature, Syndactyly, Short tibia, Polydactyly OMIM:300484
Autosomal Dominant Omodysplasia
Short palm, Rhizomelia, Elbow dislocation, Micrognathia, Patellar dislocation, Short humerus, Sho... ORPHA:93328
Multiple Epiphyseal Dysplasia Type 1
Genu varum, Finger joint hypermobility, Knee joint hypermobility, Delayed epiphyseal ossification... ORPHA:93308
Dyschondrosteosis And Nephritis
Madelung deformity, Short forearm, Ulnar bowing, Mesomelic short stature, Short tibia, Radial bowing OMIM:127350
Anauxetic Dysplasia 2
Brachydactyly, Coxa valga, Short neck, Hypoplasia of the femoral head, Short femoral neck, Ovoid ... OMIM:617396
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Scoliosis, Short tibia, Bowing of the long bones, Short neck... OMIM:601559
Acromesomelic Dysplasia 1
Lower thoracic kyphosis, Acromesomelia, Disproportionate short stature, Short toe, Ovoid vertebra... OMIM:602875
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Tapered finger, Short finger OMIM:302000
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short neck, Multiple palmar creases, Preaxial polydactyly, Oligoda... ORPHA:2756
Atelosteogenesis Type I
Brachydactyly, Coronal cleft vertebrae, Absent or minimally ossified vertebral bodies, Rhizomelia... ORPHA:1190
Congenital Radioulnar Synostosis
Abnormality of the musculature of the upper arm, Dislocated radial head, Congenital hip dislocati... ORPHA:3269
Carpenter Syndrome
Brachydactyly, Toe syndactyly, Craniosynostosis, Finger syndactyly, Preaxial foot polydactyly, Ob... ORPHA:65759
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Short r... OMIM:613091
Roussy-Lévy Syndrome
Intrinsic hand muscle atrophy, Pes cavus, Scoliosis, Kyphoscoliosis, Talipes equinovarus, Genu va... ORPHA:3115
Acromicric Dysplasia
Ovoid vertebral bodies, Short palm, Short metacarpal, Severe short stature, Cone-shaped epiphysis... OMIM:102370
Arthrogryposis, Distal, Type 2B2
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... OMIM:618435
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Joubert Syndrome 18
Intrauterine growth retardation, Joint laxity, Polydactyly, Kyphoscoliosis, Camptodactyly OMIM:614815
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Abnormal foot morphology, Ankle flexion contracture, Pes cavus, Kyphoscoliosis, Abnormality of th... OMIM:616668
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Hypoplasia of the ulna, Micrognathia, Decreased body weight ORPHA:357175
Lamb-Shaffer Syndrome
Clinodactyly, Vertebral clefting, Pes planus, Long hallux, Long fingers, Scoliosis, Overlapping toe OMIM:616803
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Abnormality of... OMIM:246570
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Brachydactyly, Hypoplasia of the ulna, Short neck, Single transverse palmar crease, Rhizomelia, H... OMIM:602613
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Short neck, Single transverse palmar crease, Decreased hip abduction, Shor... OMIM:114300
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Short stature, Camptoda... ORPHA:1883
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Micrognathia, Scoliosis, Patellar dislocation, Patellar subluxation, Bowin... OMIM:121050
Thanatophoric Dysplasia Type 1
Brachydactyly, Bowing of the long bones, Kyphosis, Short greater sciatic notch, Joint stiffness, ... ORPHA:1860
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormality of the vertebral column, Absent radius, Hand polydactyly, Abnormal vertebral morpholo... OMIM:314390
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... OMIM:228930
Cenani-Lenz Syndrome
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... ORPHA:3258
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Shortening of all distal phalanges of the fingers, Widely spa... OMIM:301900
Beta-Mercaptolactate Cysteine Disulfiduria
Sandal gap, Obesity, Arachnodactyly, Micromelia, Short stature, Joint hyperflexibility, Genu valgum ORPHA:1035
Arthrogryposis, Distal, Type 5
Bilateral talipes equinovarus, Clinodactyly, Decreased palmar creases, Distal arthrogryposis, Lim... OMIM:108145
Caudal Regression Syndrome
Abnormality of pelvic girdle bone morphology, Missing ribs, Joint stiffness, Hypoplastic vertebra... ORPHA:3027
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Advanced ossification of carpal bones, Carpal synostosis, Decreased body weight, Joint laxity, Pl... OMIM:615349
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis, Short stat... OMIM:614900
Dyssegmental Dysplasia With Glaucoma
Short long bone, Elbow flexion contracture, Platyspondyly, Flared metaphysis, Micromelia, Short s... OMIM:601561
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Hyperlordosis,... ORPHA:970
Smith-Mccort Dysplasia 2
Flattened epiphysis, Metaphyseal irregularity, Decreased body weight, Short neck, Short metacarpa... OMIM:615222
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Hypoplasia of the ulna, Micrognathia, Decreased body weight OMIM:615162
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Pes planus, Narrow vertebral interpedicular distan... OMIM:143095
Gollop-Wolfgang Complex
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Atelosteogenesis, Type Ii
Coronal cleft vertebrae, Cervical kyphosis, Short greater sciatic notch, Sandal gap, Micrognathia... OMIM:256050
Achondroplasia
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Neonatal short-limb short stature, S... OMIM:100800
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Finger syndactyly, Short neck, K... ORPHA:958
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Irregular menstruation, Cholestasis, Portal fibrosis, Oligomenorrhea, Renal tubular acidosis, Myo... ORPHA:370
Fibrochondrogenesis 1
Hypoplastic ischia, Short neck, Short palm, Fibular hypoplasia, Posterior vertebral hypoplasia, C... OMIM:228520
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Epiphyseal stippling of toe phalanges, Ca... ORPHA:79345
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Irregularity of vertebral bodies, Short palm, Cone-shaped epiphyses of the phalanges of the hand,... ORPHA:85172
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type
Arachnodactyly, Pes planus, Joint contracture of the 5th finger OMIM:300799
Geroderma Osteodysplasticum
Osteopenia, Vertebral compression fracture, Recurrent fractures, Severe short stature, Tibial bow... OMIM:231070
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Mesomelia, Micrognathia, Syndactyly OMIM:228940
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micrognathia, Micromelia, Dumbbell-shaped long b... ORPHA:440354
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Odontoid Hypoplasia
Cervical instability, Hypoplasia of the odontoid process, Atlantoaxial instability, Dystopic os o... OMIM:613628
Osteogenesis Imperfecta, Type Xi
Osteopenia, Vertebral compression fracture, Vertebral wedging, Joint laxity, Increased susceptibi... OMIM:610968
Whistling Face Syndrome, Recessive Form
Short neck, Elbow flexion contracture, Micrognathia, Knee flexion contracture, Talipes equinovaru... OMIM:277720
Brachydactyly, Type B1
Short long bone, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of the hand, Join... OMIM:113000
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly of the 5th fin... ORPHA:3320
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bodies, Joint... OMIM:608940
Charcot-Marie-Tooth Disease Type 4D
Hammertoe, Abnormal foot morphology, Upper limb amyotrophy, Distal upper limb muscle weakness, Pe... ORPHA:99950
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... OMIM:602111
Hypochondroplasia
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... ORPHA:429
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Pes planus, Delayed pubic bone o... OMIM:184250
Tibial Hemimelia
Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankles, Hip dysplasi... ORPHA:93322
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Boudin-Mortier Syndrome
Clinodactyly, Long toe, Pes planus, Joint laxity, Mallet finger, Pseudoepiphysis of the 1st metac... OMIM:619543
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short neck, Intrauterine growth retardation, Small for gestational age, Multiple prenatal fractur... OMIM:616897
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Talipes equinovarus, Split hand OMIM:607831
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Arachnodactyly, Oligodactyly, Craniosynostosis, Humeroradial synostosis OMIM:614416
Epiphyseal Dysplasia, Baumann Type
Metaphyseal irregularity, Hypoplasia of the femoral head, Pes planus, Clinodactyly of the 5th fin... OMIM:610797
Congenital Generalized Lipodystrophy
Increased C-peptide level, Diabetes mellitus, Hypertrichosis, Large hands, Clitoral hypertrophy, ... ORPHA:528
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Broad metacarpals, Osteolysis involving ta... OMIM:277950
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication OMIM:188740
Microcephaly-Micromelia Syndrome
Craniosynostosis, Short neck, Intrauterine growth retardation, Absent radius, Oligodactyly, Micro... OMIM:251230
Mesomelic Dysplasia, Savarirayan Type
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... ORPHA:85170
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis, Long foot, Small for gestational age OMIM:300844
Parana Hard Skin Syndrome
Short stature, Tapered finger, Restricted chest movement, Growth delay ORPHA:2812
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... OMIM:118005
Charcot-Marie-Tooth Disease, Type 4B2
Ulnar claw, Hammertoe, Pes cavus, Kyphoscoliosis, Talipes equinovarus, Split hand OMIM:604563
Roussy-Levy Hereditary Areflexic Dystasia
Pes cavus, Kyphoscoliosis, Hammertoe OMIM:180800
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Thoracic kyphosis, Arachnodactyly, Pes cavus, Syndactyly OMIM:619092
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Ulnar claw, Hammertoe, Pes cavus, Kyphoscoliosis, Split hand OMIM:118220
Fryns-Smeets-Thiry Syndrome
Micrognathia, Arachnodactyly, Scoliosis, Short stature, Patellar aplasia, Cachexia, Joint hyperfl... ORPHA:2058
Codas Syndrome
Coronal cleft vertebrae, Pes valgus, Delayed ossification of carpal bones, Absent epiphyses, Shor... OMIM:600373
2Q32Q33 Microdeletion Syndrome
Toe clinodactyly, Joint hyperflexibility, Clinodactyly of the 5th finger, Growth delay, Micrognat... ORPHA:251019
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormality of the ulna, Short femoral neck, Aplasia/Hypoplasia of the ... ORPHA:2632
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Irregular menstruation, Cholestasis, Anemia, Portal fibrosis, Oligomenorrhea, Renal tubular acido... ORPHA:264580
Acro-Renal-Ocular Syndrome
Broad hallux phalanx, Toe syndactyly, Abnormal thumb morphology, Hypoplasia of the ulna, Finger s... ORPHA:959
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal form of the ve... ORPHA:3098
Galloway-Mowat Syndrome 2, X-Linked
Intrauterine growth retardation, Micrognathia, Arachnodactyly, Scoliosis, Short stature OMIM:301006
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Mesomelic Dysplasia, Kantaputra Type
Synostosis of carpal bones, Vertebral segmentation defect, Talipes, Clinodactyly of the 5th finge... ORPHA:1836
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Decreased body weight, Kyphosis, Delayed ossification of carpal bones, Small for g... OMIM:618392
Gm1 Gangliosidosis Type 1
Intrauterine growth retardation, Hypoplastic vertebral bodies, Flared iliac wing, Platyspondyly, ... ORPHA:79255
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Knee flexion contracture, Upper limb amyotrophy, Kyphosc... ORPHA:496689
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis, Short stature, Hallux valgus OMIM:615541
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Severe short stature, Squared iliac bones, Lateral femoral bowi... OMIM:112350
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis OMIM:218650
Rahman Syndrome
Kyphoscoliosis, Camptodactyly, Talipes equinovarus OMIM:617537
Frontometaphyseal Dysplasia 1
Long phalanx of finger, Increased density of long bone diaphyses, Coxa valga, Partial fusion of t... OMIM:305620
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Short femur, Amelia, Scoliosis OMIM:601357
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Vitreous hemorrhage, Tractional retin... ORPHA:90050
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... ORPHA:93351
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Tapered finger, Scoliosis, Short stature, Large hands ORPHA:276630
Congenital Contractural Arachnodactyly
Flexion contracture, Joint stiffness, Slender build, Congenital kyphoscoliosis, Arachnodactyly, S... ORPHA:115
Ataxia-Oculomotor Apraxia Type 4
Abnormality of toe, Obesity, Pes cavus, Distal lower limb muscle weakness, Kyphoscoliosis ORPHA:459033
Robinow Syndrome, Autosomal Dominant 2
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Sacral dimple, Micrognat... OMIM:616331
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Primary amenorrhea, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Sp... OMIM:612526
Hypertrophic Neuropathy Of Dejerine-Sottas
Ulnar claw, Hammertoe, Pes cavus, Kyphoscoliosis, Split hand OMIM:145900
Odontochondrodysplasia 1
Genu varum, Coronal cleft vertebrae, Delayed ossification of carpal bones, Osteoporosis, Micromel... OMIM:184260
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Osteoarthritis, Platyspondyly, Arachnodactyly, Irregular f... OMIM:108300
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Bilateral talipes equinovarus, Absent palmar crease, Joint stiffness, Deviation of finger, Arachn... ORPHA:1154
Boomerang Dysplasia
Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Abnormal bone ossif... ORPHA:1263
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Osteopenia, Long toe, Pes planus, Growth delay, Arachnodactyly, Short statur... ORPHA:75496
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
4-5 toe syndactyly, Acromesomelia, Thoracic kyphosis, Patellar hypoplasia, 2-3 toe syndactyly, Th... ORPHA:3041
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Hammertoe, Severe short stature, Short thumb, Hy... ORPHA:2319
2Q24 Microdeletion Syndrome
Toe syndactyly, Bullet-shaped distal phalanx of the hallux, Short neck, Small for gestational age... ORPHA:1617
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Coxa valga, Intrauterine... ORPHA:356961
Transaldolase Deficiency
Abnormality of the clitoris, Hepatosplenomegaly, Increased serum bile acid concentration, Abnorma... ORPHA:101028
Warburg Micro Syndrome 1
Osteoporosis, Micrognathia, Joint hypermobility, Short stature, Failure to thrive, Kyphoscoliosis... OMIM:600118
Multiple Metaphyseal Dysplasia
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... ORPHA:93430
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Coxa valga, Delayed ossification of carpal bones, Cervical instability, Single tra... OMIM:617425
Craniofaciofrontodigital Syndrome
Short neck, Hypoplastic vertebral bodies, Palmoplantar cutis laxa, Joint hypermobility, Short sta... OMIM:114620
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Pes planus, Sandal gap, Broad femoral neck, Severe short stat... OMIM:251450
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Generalized osteoporosis, Homocystinuria, Osteoporosis, Methioninuria, Arachnodactyly, Scoliosis,... OMIM:236200
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... OMIM:619217
Schwartz-Jampel Syndrome, Type 1
Coronal cleft vertebrae, Pes planus, Osteoporosis, Micrognathia, Abnormality of femoral epiphysis... OMIM:255800
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Toe syndactyly, Decreased body weight, Short neck, Sacral dimple, Intrauterine growth retardation... ORPHA:505237
Nemaline Myopathy 7
Pes planus, Knee flexion contracture, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Shou... OMIM:610687
Marfanoid Hypermobility Syndrome
Arachnodactyly, Scoliosis, Joint hypermobility OMIM:154750
Mucopolysaccharidosis, Type Iiid
Achilles tendon contracture, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Joint... OMIM:252940
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Ehlers-Danlos Syndrome, Periodontal Type, 1
Palmoplantar cutis laxa, Joint laxity, Generalized joint laxity, Arachnodactyly, Scoliosis OMIM:130080
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Fibular hypoplasia, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac wing, Short toe, Ha... OMIM:609945
Lujan-Fryns Syndrome
Brachydactyly, Micrognathia, Arachnodactyly, Scoliosis, Camptodactyly of finger, Joint hyperflexi... ORPHA:776
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Delayed patellar ossification, Long distal phalanx of finger, Genu valgum, Flat capita... OMIM:603546
Distal Trisomy 15Q
Short neck, Intrauterine growth retardation, Joint stiffness, Micrognathia, Arachnodactyly, Campt... ORPHA:1707
Gorlin Syndrome
Brachydactyly, Vertebral wedging, Plantar pits, Arachnodactyly, Scoliosis, Palmar pits, Vertebral... ORPHA:377
Cog7-Cdg
Hepatosplenomegaly, Small for gestational age, Hepatomegaly, Jaundice, Elevated circulating creat... ORPHA:79333
Coffin-Siris Syndrome 5
Intrauterine growth retardation, Sandal gap, Arachnodactyly, Short distal phalanx of finger, Shor... OMIM:616938
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Pes planus, Metacarpal osteolysis, Osteoporosis, Microg... OMIM:259600
Ulna Metaphyseal Dysplasia Syndrome
Abnormal hip bone morphology, Abnormality of the ulna, Abnormal form of the vertebral bodies, Abn... ORPHA:1837
Acrodysostosis With Multiple Hormone Resistance
Brachydactyly, Intrauterine growth retardation, Hypoplastic vertebral bodies, Short metacarpal, C... ORPHA:280651
Gm1-Gangliosidosis, Type I
Kyphosis, Short neck, Hypoplastic vertebral bodies, Intrauterine growth retardation, Severe short... OMIM:230500
Proximal 16P11.2 Microduplication Syndrome
Arachnodactyly, Scoliosis, Short stature, Failure to thrive, Decreased body mass index, Hemiverte... ORPHA:370079
Duane-Radial Ray Syndrome
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Upper limb muscle hypoplasia, Absent... OMIM:607323
Acrorenal-Mandibular Syndrome
Rudimentary fibula, Toe syndactyly, Butterfly vertebrae, Hypoplasia of the ulna, Foot polydactyly... OMIM:200980
Alpha-2-Deficient Collagen Disease
Arachnodactyly OMIM:203760
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Flexion contracture, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of th... OMIM:612079
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Brachydactyly, Abnormal 5th metacarpal morphology, Small cervical vertebral bodies, Cervical spin... ORPHA:397715
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Ulnar claw, Hammertoe, Pes cavus, Kyphoscoliosis, Split hand OMIM:118200
Microphthalmia With Limb Anomalies
Abnormal thumb morphology, Fibular hypoplasia, Sandal gap, Clinodactyly of the 5th finger, Microg... ORPHA:1106
Lipodystrophy, Familial Partial, Type 3
Hepatic steatosis, Primary amenorrhea, Acanthosis nigricans, Prominent superficial veins, Hyperin... OMIM:604367
Thalidomide Embryopathy
Radial club hand, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Triphalangea... ORPHA:3312
Harrod Syndrome
Abnormality of pelvic girdle bone morphology, Kyphosis, Intrauterine growth retardation, Arachnod... ORPHA:2115
Van Den Ende-Gupta Syndrome
Craniosynostosis, Elbow flexion contracture, Dislocated radial head, Slender metacarpals, Distal ... OMIM:600920
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Long foot, 11 pairs of ribs, Micrognathia, Micromelia, Disproportionate short stature, Large hand... OMIM:210710
Donohue Syndrome
Intrauterine growth retardation, Hyperinsulinemia, Cholestasis, Pancreatic islet-cell hyperplasia... OMIM:246200
Stickler Syndrome, Type Ii
Arachnodactyly, Long fingers, Micrognathia, Joint hypermobility OMIM:604841
Dyggve-Melchior-Clausen Disease
Genu varum, Pes planus, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Di... OMIM:223800
Trichohepatoenteric Syndrome 1
Brittle hair, Hepatic failure, Woolly hair, Cholestasis, Fine hair, Abnormality of iron homeostas... OMIM:222470
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Retinal dysplasia, Abnormal retinal vascular morphology ORPHA:1852
Marfanoid Mental Retardation Syndrome, Autosomal
Arachnodactyly OMIM:248770
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Flexion contracture, Limitation of joint mobility, Hip dislocation ORPHA:171719
Mass Syndrome
Arachnodactyly, Scoliosis OMIM:604308
Hemochromatosis Type 2
Increased circulating ferritin concentration, Dilated cardiomyopathy, Elevated transferrin satura... ORPHA:79230
Acrofacial Dysostosis, Palagonia Type
Spina bifida occulta at S1, Short 4th metacarpal, Hypoplasia of the odontoid process, Abnormal ve... OMIM:601829
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormality of the vertebral column, Abnormal pelvis bone morpholog... ORPHA:239
Arthrogryposis, Distal, With Impaired Proprioception And Touch
Flexion contracture, Pes planus, Sandal gap, Arachnodactyly, Talipes equinovarus, Scoliosis, Shor... OMIM:617146
Distal Trisomy 18Q
Short neck, Deviation of finger, Progressive intervertebral space narrowing, Clinodactyly of the ... ORPHA:1716
Laurin-Sandrow Syndrome
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... OMIM:135750
Cerebrooculofacioskeletal Syndrome 2
Intrauterine growth retardation, Small for gestational age, Rocker bottom foot, Growth delay, Mic... OMIM:610756
Progeroid Facial Appearance With Hand Anomalies
Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Arachnodactyly, Long fingers... OMIM:602249
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Abnormal vertebral morphology OMIM:615709
Dysostosis Multiplex, Ain-Naz Type
Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Scoliosis, Wide humerus, Fl... OMIM:619345
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Long palm, A... ORPHA:2759
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Short stature, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Increased hepatic glycogen content, Hypertrophic cardiomyopathy, Hep... ORPHA:369
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short neck, Tapered distal phalanges of finger, Elbow flexion contracture, Intrauterine growth re... ORPHA:371364
Beta-Thalassemia Intermedia
Hypothyroidism, Abnormality of iron homeostasis, Diabetes mellitus, Persistence of hemoglobin F, ... ORPHA:231222
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly, Intrauterine growth retardation, Small for gestational age, Severe postnatal growth... ORPHA:73272
Multiple Sulfatase Deficiency
Short stature, Broad hallux, Hypoplastic vertebral bodies, Broad thumb OMIM:272200
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Short neck, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
Melnick-Needles Syndrome
Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Pes planus, Tibial bowing, Hypopl... OMIM:309350
Chromosome 16P13.3 Duplication Syndrome
Tapered finger, Short phalanx of finger, Pes cavus, Long fingers, Proximal placement of thumb, Sh... OMIM:613458
Paternal Uniparental Disomy Of Chromosome 5
Abnormality of fibular epiphyses, Short lower limbs, Kyphoscoliosis, Rhizomelic arm shortening ORPHA:96190
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis, Micrognathia, Arachnodactyly, Joi... ORPHA:2824
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Pes planus, 11 pairs of ribs, Severe short stature, Osteoporosis, Micrognathia... OMIM:271640
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Anemia, Oligomenorrhea, Renal tubular acidosis, Myoglobinuria, Short stat... ORPHA:79240
Orofaciodigital Syndrome Iv
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... OMIM:258860
Larsen-Like Syndrome
Bipartite calcaneus, Clinodactyly of the 5th finger, Joint laxity, Talipes equinovarus, Short sta... OMIM:608545
Marden-Walker Syndrome
Short neck, Kyphosis, Intrauterine growth retardation, Congenital contracture, Micrognathia, Radi... OMIM:248700
Mesomelic Dysplasia, Nievergelt Type
Genu varum, Abnormality of the ulna, Finger syndactyly, Camptodactyly of finger, Sacral dimple, B... ORPHA:2633
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Kyphosis, Short femoral neck, Hip osteoarthritis, Disproportiona... OMIM:313400
Rothmund-Thomson Syndrome, Type 1
Hypothyroidism, Recurrent otitis media, Absent eyelashes, Thin nail, Hyperkeratosis, Absent eyebr... OMIM:618625
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ... OMIM:151210
Wilson Disease
Bruising susceptibility, Hepatic steatosis, Cirrhosis, Weight loss, Arthritis, Splenomegaly, Hepa... ORPHA:905
Transaldolase Deficiency
Pancytopenia, Anemia, Ventricular septal defect, Oligohydramnios, Thrombocytopenia, Clitoral hype... OMIM:606003
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... OMIM:277300
Femoral-Facial Syndrome
Missing ribs, Micrognathia, Scoliosis, Hemivertebrae, Short fifth metatarsal, Short third metatar... OMIM:134780
Ollier Disease
Multiple enchondromatosis, Joint stiffness, Platyspondyly, Micromelia, Abnormal cartilage morphol... ORPHA:296
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Supernumerary vertebrae, Abnormal foot morphology, Congenital hip disloca... OMIM:263750
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Disproportionate short-tr... OMIM:300106
16P13.11 Microduplication Syndrome
Craniosynostosis, Pes planus, Hand polydactyly, Arachnodactyly, Joint hyperflexibility ORPHA:261243
Solitary Bone Cyst
Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o... ORPHA:83468
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Joint hypermobility, Scoliosis, Short stature OMIM:619013
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Decreased palmar creases, Small for gestational... ORPHA:2980
Galloway-Mowat Syndrome 7
Clinodactyly, Single transverse palmar crease, Partial duplication of thumb phalanx, Micrognathia... OMIM:618348
Atelosteogenesis, Type Iii
Cervical kyphosis, Cervical segmentation defect, Short neck, Hitchhiker thumb, Widened distal pha... OMIM:108721
Kniest Dysplasia
Coronal cleft vertebrae, Short neck, Tracheomalacia, Abnormal cartilage collagen, Disproportionat... OMIM:156550
Pparg-Related Familial Partial Lipodystrophy
Generalized hirsutism, Hepatic steatosis, Primary amenorrhea, Acanthosis nigricans, Polycystic ov... ORPHA:79083
Porphyria Cutanea Tarda
Viral hepatitis, Decreased hepcidin level, Chronic hepatitis, Diabetes mellitus, Hypertrichosis, ... ORPHA:101330
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hypothyroidism, Proteinuria, Premature ovarian insufficiency, Th... OMIM:212065
Ruvalcaba Syndrome
Kyphosis, Short palm, Short metacarpal, Short phalanx of finger, Micromelia, Limited elbow extens... OMIM:180870
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of the radius, Micrognathia, Camptodactyly ... ORPHA:246
Pallister W Syndrome
Clinodactyly, Hypoplasia of the ulna, Pes planus, Metatarsus adductus, Pes cavus, Cubitus valgus,... OMIM:311450
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Coronal cleft vertebrae, Short long bone, Premature osteoarthritis, Short palm, Flexion contractu... OMIM:215150
Cervical Vertebrae, Agenesis Of
Cervical vertebral agenesis OMIM:214290
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Finger syndactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Micrognathia, Short sta... OMIM:264475
Bardet-Biedl Syndrome
Generalized hirsutism, Finger syndactyly, Nephrotic syndrome, Cryptorchidism, Obesity, Hypoplasia... ORPHA:110
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Slender finger, Pes valgus, Short neck, Intrauterine growth retardation, Small for ... ORPHA:391408
Pseudodiastrophic Dysplasia
Short neck, Rhizomelia, Severe short stature, Hypoplasia of the odontoid process, Elbow dislocati... OMIM:264180
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Slender finger, Small for gestational age, Long toe, Long fingers, Postnatal growth retardation, ... OMIM:613355
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Pes planus, Micrognathia, Scoliosis, Bowing of the long bones, Single transverse palmar crease, F... OMIM:130070
Clark-Baraitser syndrome
Kyphosis, Short palm, Joint laxity, Broad palm, Tapered finger, Obesity, Scoliosis, Genu recurvat... OMIM:300602
Porphyria Cutanea Tarda, Type I
Eczema, Hypertrichosis, Fragile skin, Hepatic fibrosis, Porphyrinuria OMIM:176090
W Syndrome
Clinodactyly, Hypoplasia of the ulna, Pes planus, Elbow dislocation, Metatarsus adductus, Pes cav... ORPHA:2804
Ichthyosis--Cheek--Eyebrow Syndrome
Pes planus, Kyphoscoliosis OMIM:146720
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Split hand OMIM:614707
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature, Elevated hepatic transaminase, Hype... OMIM:614480
Baller-Gerold Syndrome
Carpal synostosis, Micrognathia, Carpal bone aplasia, Scoliosis, Bicoronal synostosis, Aplasia of... OMIM:218600
Alagille Syndrome
Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Intrauterine growth retardation, C... ORPHA:52
Morbid Obesity And Spermatogenic Failure
Infertility, Hepatic steatosis, Hypercholesterolemia, Azoospermia, Obesity, Increased LDL cholest... OMIM:615703
Wilson-Turner Syndrome
Pes planus, Tapered finger, Micrognathia, Truncal obesity, Pes cavus, Short stature, Small hand, ... ORPHA:3459
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Narrow iliac wing, Genu varum, Broad palm, Scoliosis, Metaphyseal widening, Genu valgum, Brachyda... OMIM:250420
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Syndromic X-Linked Intellectual Disability 7
Obesity, Short stature, Tapered finger ORPHA:85274
Fibular Aplasia-Complex Brachydactyly Syndrome
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... ORPHA:2639
Bruck Syndrome 1
Kyphosis, Elbow flexion contracture, Vertebral wedging, Joint laxity, Osteoporosis, Ankle flexion... OMIM:259450
Achondroplasia
Hip joint hypermobility, Disproportionate short stature, Spinal canal stenosis, Narrow greater sc... ORPHA:15
Dominant Beta-Thalassemia
Upslanted palpebral fissure, Hypothyroidism, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231226
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Flat capital femoral epiphysis, Genu varum, Metaphyseal irregularity, Thoracic kyphosis, Delayed ... OMIM:271510
Retinoschisis 1, X-Linked, Juvenile
Retinal pigment epithelial atrophy, Retinal degeneration, Retinal detachment, Retinal atrophy, Vi... OMIM:312700
Atkin-Flaitz Syndrome
Kyphosis, Short palm, Joint laxity, Broad palm, Tapered finger, Obesity, Scoliosis, Short stature... OMIM:300431
Robin Sequence With Cleft Mandible And Limb Anomalies
Fibular hypoplasia, Short metacarpal, Clinodactyly of the 5th finger, Tibial deviation of toes, S... OMIM:268305
Crisponi/Cold-Induced Sweating Syndrome 1
Short neck, Short palm, Elbow flexion contracture, Pes planus, Tapered finger, Micrognathia, Limi... OMIM:272430
Heart-Hand Syndrome Type 2
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Joint stiffness, Aplasia/Hypoplasia... ORPHA:1350
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Lumbar platyspondyly, Short ribs, Thoracic platyspondyly, Squared iliac bones, Bea... OMIM:618961
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Increased vertebral height, Arachnodactyly, Scoliosis, Camptodactyly of toe, Broad femoral metaph... OMIM:610474
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Cardiomegaly, Amenor... OMIM:235200
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Hepatic failure, Intrauterine growth retardation, C... OMIM:231100
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Chronic kidney disease, Short stature, Congenital hepatic fibrosi... ORPHA:3156
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Brachydactyly, Sandal gap, Kyphoscoliosis OMIM:600991
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Prolonged neonatal jaundice, Congenital hepatic fib... ORPHA:446
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... ORPHA:1275
Central Core Disease
Multiple joint contractures, Pes planus, Joint laxity, Congenital hip dislocation, Kyphoscoliosis... ORPHA:597
Kuskokwim Syndrome
Talipes, Abnormal form of the vertebral bodies, Joint stiffness, Scoliosis, Aplasia/Hypoplasia of... ORPHA:1149
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Long foot, Osteopenia, Lumbar hemivertebrae, Increased arm span, Thena... ORPHA:2463
Leri Pleonosteosis
Brachydactyly, Abnormally straight spine, Joint stiffness, Abnormal form of the vertebral bodies,... ORPHA:2900
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Brachydactyly, Flattened epiphysis, Thoracic kyphosis, Short neck, Flexion contracture, Short fem... OMIM:300232
Omodysplasia 1
Short neck, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Limited knee flexion, Mic... OMIM:258315
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Upslanted palpebral fissure, Ichthyosis, Cholestasis, Erythema, Growth delay, Cirrhosis, Hepatic ... OMIM:609313
Gabriele-De Vries Syndrome
Joint laxity, Long fingers, Intrauterine growth retardation OMIM:617557
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Hypogonadotropic hypogonadism, Amenorrhea, Elevated... OMIM:604250
Contractures-Developmental Delay-Pierre Robin Syndrome
Abnormality of finger, Short thumb, Thoracolumbar scoliosis, Metatarsus adductus, Micrognathia, R... ORPHA:436003
Dystonia, Juvenile-Onset
Kyphoscoliosis, Externally rotated hips, Hypoplastic scapulae, Small for gestational age OMIM:607371
Sponastrime Dysplasia
Abnormality of the vertebral column, Pes planus, Broad palm, Generalized joint laxity, Scoliosis,... ORPHA:93357
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Hypoplasia of the ulna, Osteopenia, Osteoporosis, Scoliosis, Ankle clonus OMIM:615398
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Microcephaly, Short Stature, And Limb Abnormalities
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Clinodactyly of the 5th finger,... OMIM:617604
Spinal Muscular Atrophy, Ryukyuan Type
Pes cavus, Kyphoscoliosis OMIM:271200
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Ulnar claw, Split hand, Hammertoe OMIM:214400
Achondrogenesis Type 2
Absent vertebral body mineralization, Delayed proximal femoral epiphyseal ossification, Short rib... ORPHA:93296
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis, Joint laxity OMIM:236660
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
Arthrogryposis, Distal, Type 2A
Scoliosis, Ulnar deviation of the hand or of fingers of the hand, Hip dislocation, Short neck, Sm... OMIM:193700
Nemaline Myopathy 4
Kyphoscoliosis, Scapular winging, Flexion contracture OMIM:609285