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Gene: Col12a1 MGI:88448

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

collagen, type XII, alpha 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Col12a1 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.

Human diseases associated with Col12a1 (5 diseases)
Human diseases predicted to be associated with Col12a1 (824 diseases)

The table below shows human diseases associated to Col12a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr...	OMIM:616470
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ...	OMIM:616471
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Generalized amyotrophy, Slender finger, Increased...	ORPHA:75840
Bethlem Muscular Dystrophy	Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl...	ORPHA:610

The table below shows human diseases predicted to be associated to Col12a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac...	OMIM:620386
Spinal Muscular Atrophy, Ryukyuan Type	Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis	OMIM:271200
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Structural fo...	ORPHA:564003
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Distal amyotrophy, Tremor, Kyphoscoliosis	OMIM:619099
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Ankle flexion c...	OMIM:616668
Congenital Myopathy 23	Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S...	ORPHA:53697
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur	OMIM:600121
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Nemaline Myopathy 7	Minicore myopathy, Nemaline bodies, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Limb m...	OMIM:610687
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ...	ORPHA:2114
Rhizomelic Dysplasia, Ain-Naz Type	Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu...	OMIM:619598
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Knee flexion contracture, Kyphoscoliosis, Talipes equino...	ORPHA:496689
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu...	ORPHA:2635
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Abnormal hip bone m...	ORPHA:970
Pyle Disease	Platyspondyly, Absent paranasal sinuses, Genu valgum, Limited elbow extension, Thin bony cortex, ...	OMIM:265900
Roussy-Lévy Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Postural tremor, Genu val...	ORPHA:3115
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones...	OMIM:271530
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Acromesomelic Dysplasia 2A	Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula...	OMIM:200700
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre...	OMIM:618484
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Distal amyotrophy, Action tremor, Kyphoscoliosis, Hammertoe	OMIM:180800
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Abnormal metaphysis morphology, Kyphoscoliosis	ORPHA:93304
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ...	OMIM:600175
Ck Syndrome	Slender build, Micrognathia, Abnormal cortical bone morphology, Joint hypermobility, Abnormal dig...	OMIM:300831
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Fla...	ORPHA:94068
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Foot dorsiflexor weakness, Distal amyotrophy, Upper limb muscle weakness, Kyphoscoliosis	OMIM:605588
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Short femoral neck, Decreased body weight, Brachydactyly, Reduced bone mineral density,...	OMIM:618392
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Firm muscles, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Kyphoscoliosis, Skelet...	OMIM:255710
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na...	ORPHA:50811
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Muscular dystrophy, Kyphoscoliosis, Distal lower limb muscle...	ORPHA:459033
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h...	ORPHA:40
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte...	OMIM:271630
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals...	OMIM:277950
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Muscular dystrophy, Increased endomysial connective tissue, Kyphoscoliosis	OMIM:607855
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Pseudoarthrosis,...	OMIM:619795
Acrocapitofemoral Dysplasia	Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re...	OMIM:300718
Spondyloepiphyseal Dysplasia, Stanescu Type	Platyspondyly, Vertebral wedging, Internal tibial torsion, Kyphoscoliosis, Beaking of vertebral b...	OMIM:616583
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Muscular dystrophy, Kyphoscoliosis, Flexion contr...	OMIM:616470
Congenital Muscular Dystrophy Without Intellectual Disability	Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Facial diplegia, Kyphoscoliosis, Pro...	ORPHA:370980
Charcot-Marie-Tooth Disease, Type 4K	Dystonia, Skeletal muscle atrophy, Kyphoscoliosis	OMIM:616684
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Sandwich appearance of vertebral bodies, Sclerosis of skull base, Fe...	OMIM:602080
Central Core Disease	Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Kyphosc...	ORPHA:597
Epiphyseal Dysplasia, Multiple, 7	Platyspondyly, Epiphyseal dysplasia, Vertebral wedging, Hypoplasia of the capital femoral epiphys...	OMIM:617719
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Talipes equinovarus, Distal amyotrophy, Split hand, Kyphoscoliosis	OMIM:607831
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Epiphyseal Dysplasia, Multiple, 1	Delayed epiphyseal ossification, Hip osteoarthritis, Epiphyseal dysplasia, Broad femoral neck, Ir...	OMIM:132400
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ...	ORPHA:1486
Charcot-Marie-Tooth Disease Type 4D	Postural tremor, Kyphoscoliosis, Distal lower limb muscle weakness, Split hand, Hammertoe, Lower ...	ORPHA:99950
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Broad thumb, Broad hallux, Decreased muscle mass, Kyphoscoliosis, Atlantoaxial abnormality	ORPHA:3433
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Charcot-Marie-Tooth Disease Type 1A	Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis	ORPHA:101081
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Ulnar claw, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Kyphoscoliosis, S...	OMIM:118220
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve...	OMIM:184255
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Limb undergrowth, Abnormal cortica...	ORPHA:2204
Richieri Costa-Da Silva Syndrome	Vertebral wedging, Decreased muscle mass, Decreased anterioposterior diameter of lumbar vertebral...	ORPHA:3101
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Platyspondyly, Bowing of the legs, Lower limb undergrowth, Kyphoscoliosis, Lumbar scoliosis, Brac...	OMIM:612847
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Rhizomelia, Micromelia, Micrognathia, Genu valgum, Death in childhood,...	OMIM:613848
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Cutaneous finger syndactyly, Duplication of metatarsal bones, Kyphoscoliosis, Aplasia/Hypoplasia ...	OMIM:600384
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Platyspondyly, Osteopenia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Decreased...	OMIM:616897
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Decreased muscle m...	ORPHA:536516
Charcot-Marie-Tooth Disease, Type 4B2	Ulnar claw, Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis, Talipes equinovarus, Sp...	OMIM:604563
Maternal Uniparental Disomy Of Chromosome 9	Abnormal vertebral morphology, Short neck, Hamstring contractures, Kyphoscoliosis	ORPHA:96183
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Ulnar claw, Distal amyotrophy, Limb muscle weakness, Foot dorsiflexor weakness, Kyphoscoliosis, S...	OMIM:118200
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo...	OMIM:100800
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Corti...	ORPHA:1310
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Distal upper limb amyotrophy, Tremor, Scoliosis, Kyphosis	ORPHA:101075
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio...	OMIM:222600
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Broad femoral neck, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Interver...	OMIM:609223
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl...	ORPHA:1988
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Fibular bowing, F...	OMIM:600081
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Atelosteogenesis, Type I	Radial bowing, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes equinovarus, Short...	OMIM:108720
Bethlem Myopathy 2	Increased variability in muscle fiber diameter, Myopathy, Scapular winging, Flexion contracture, ...	OMIM:616471
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Skeletal muscle atrophy, Myopathy, Kyphoscoliosis	ORPHA:300179
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Foot dorsiflexor weakness, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Upper...	OMIM:617087
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e...	ORPHA:1190
Osteogenesis Imperfecta, Type Xviii	Micrognathia, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long...	OMIM:617952
Hyperekplexia 4	Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexio...	OMIM:618011
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long ...	ORPHA:1860
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Lumbar hyperlordosis, Muscle fiber...	OMIM:619542
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Spastic Paraplegia 18B, Autosomal Recessive	Pes cavus, Ankle clonus, Joint contracture, Scoliosis, Kyphosis	OMIM:611225
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Abnormality of carpal bone ossification, Failure to thrive, Slender build, Genu valgu...	OMIM:608154
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Abnormal ulnar metaphysis morphology, Genu valgum, Metaphyseal ench...	ORPHA:85198
Melnick-Needles Syndrome	Anisospondyly, Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses o...	ORPHA:2484
Atelosteogenesis Type Ii	Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Short neck, Bro...	ORPHA:56304
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ...	ORPHA:1145
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,...	ORPHA:73
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P...	ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Hip osteoarthritis, Flattened femoral head, Hump-shaped mound of bone in central a...	ORPHA:99642
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ...	OMIM:112350
Intellectual Developmental Disorder, X-Linked 19	Scoliosis, Kyphoscoliosis	OMIM:300844
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Kyphoscoliosis	OMIM:236660
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla...	OMIM:147891
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Micrognathia, Abnormal ...	ORPHA:2097
Brown-Vialetto-Van Laere Syndrome 2	Limb muscle weakness, Kyphoscoliosis, Split hand, Facial palsy, Scoliosis, Generalized amyotrophy	OMIM:614707
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Tremor, Kyphoscoliosis, Tr...	OMIM:619574
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ...	OMIM:251450
Myasthenic Syndrome, Congenital, 25, Presynaptic	Generalized amyotrophy, Myopathy, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Metaphyseal irregularity, Arthralgia of the hip, Broad femoral neck, Hypopl...	OMIM:607078
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenital knee ...	OMIM:130060
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Platyspondyly, Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral me...	OMIM:609324
Ichthyosis--Cheek--Eyebrow Syndrome	Kyphoscoliosis	OMIM:146720
Proteus Syndrome	Mandibular hyperostosis, Hypertrophy of skin of soles, Facial hyperostosis, Kyphoscoliosis, Thin ...	OMIM:176920
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis, Tremor, Skeletal muscle atrophy	ORPHA:101078
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg...	ORPHA:1159
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Kyphoscoliosis	OMIM:617977
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Abnormal foot morphology, ...	OMIM:208230
Orofaciodigital Syndrome Xi	Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis	OMIM:612913
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Short finger, Sclerosis of skull base, Hip contracture, Knee flexion contracture, ...	OMIM:313420
Hall-Riggs Syndrome	Platyspondyly, Failure to thrive, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, ...	OMIM:234250
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Failure to thrive, Bulging epiphyses, Hypophosphatemic ...	OMIM:241530
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Platyspondyly, Osteopenia, Broad femoral neck, Failure to thrive, Abnormal metaphysis morphology,...	ORPHA:157965
Spondylocostal Dysostosis 1, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio...	OMIM:277300
Ullrich Congenital Muscular Dystrophy	Increased variability in muscle fiber diameter, Generalized amyotrophy, Slender finger, Increased...	ORPHA:75840
Multiple Epiphyseal Dysplasia, Beighton Type	Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter...	ORPHA:166011
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Scoliosis, Recurrent fractures	OMIM:615066
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria...	OMIM:259440
Whistling Face Syndrome, Recessive Form	Ulnar deviation of finger, Shoulder flexion contracture, Elbow flexion contracture, Knee flexion ...	OMIM:277720
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Hypertrophic Neuropathy Of Dejerine-Sottas	Ulnar claw, Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis, Distal lower limb muscl...	OMIM:145900
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, Short neck, Camptodactyly, Rocker...	OMIM:618393
Leukodystrophy, Hypomyelinating, 17	Flexion contracture, Kyphoscoliosis	OMIM:618006
Intellectual Developmental Disorder, X-Linked 111	Dystonia, Kyphoscoliosis	OMIM:301107
Bruck Syndrome	Platyspondyly, Joint stiffness, Recurrent fractures, Bowing of the long bones, Talipes equinovaru...	ORPHA:2771
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Kyphosis, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Hip contracture, Bowing of the long bones, Talipes equinovarus, Sh...	OMIM:255800
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability...	OMIM:607326
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l...	OMIM:147750
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Abnormal foot morphology, Upper limb undergrowth, Aplasia/hy...	ORPHA:75508
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi...	OMIM:264700
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Osteomalacia, Abnorm...	ORPHA:93160
Osteogenesis Imperfecta, Type Iii	Slender long bone, Recurrent fractures, Micrognathia, Bowing of limbs due to multiple fractures, ...	OMIM:259420
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Short femoral neck, Knee dislocation, Obesity, Micrognathia, Genu valgum, Smal...	OMIM:618363
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Bulgi...	OMIM:277440
Episodic Ataxia Type 1	Hand clenching, Kyphoscoliosis, Calf muscle hypertrophy, Scoliosis, Choreoathetosis	ORPHA:37612
Charcot-Marie-Tooth Disease, Type 4A	Ulnar claw, Distal amyotrophy, Hammertoe, Kyphoscoliosis	OMIM:214400
Arthrogryposis, Distal, Type 3	Arthrogryposis multiplex congenita, Decreased muscle mass, Camptodactyly of finger, Ulnar deviati...	OMIM:114300
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,...	ORPHA:628
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me...	ORPHA:93333
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Radial bowing, Slender long bone, Recurrent fractures, Femoral bowing,...	OMIM:610915
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Short toe, Hand tremor, Decreased muscle mass, Hyperextensibility of the finger joints, Patellar ...	ORPHA:3041
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Skeletal muscle atrophy, Ulnar deviation of the hand, Kyphoscoliosis	OMIM:612079
Hypochondroplasia	Flared metaphysis, Lumbar hyperlordosis, Limited elbow extension, Trident hand, Aplasia/hypoplasi...	OMIM:146000
Kyphomelic Dysplasia	Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbe...	OMIM:211350
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler...	ORPHA:210110
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Abno...	OMIM:184252
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Limitation of joint mobility, Abnorm...	ORPHA:3098
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Avascular necrosis of th...	OMIM:184100
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Failure to thrive, Joint stiffness, Hypoplastic vertebral ...	OMIM:230600
Scapuloperoneal Spinal Muscular Atrophy	Progressive distal muscular atrophy, Peroneal muscle atrophy, Muscle fiber splitting, Small hand,...	OMIM:181405
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ...	OMIM:618658
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Platyspondyly, Joint contracture of the hand, Broad femoral neck, Flared metaphysis, Camptodactyl...	OMIM:612350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Platyspondyly, Metaphyseal irregularity, Short femoral neck, Knee dislocation, Obesity, Joint hyp...	OMIM:618395
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R...	OMIM:307800
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ...	OMIM:607634
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Osteomalacia, Sclero...	ORPHA:289176
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal...	OMIM:618138
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta...	OMIM:602111
Anauxetic Dysplasia 2	Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Short neck, Hypoplastic il...	OMIM:617396
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Recurrent fractures, Abnor...	ORPHA:2769
Multiple Epiphyseal Dysplasia Type 4	Limitation of joint mobility, Hypoplastic cervical vertebrae, Radial bowing, Premature osteoarthr...	ORPHA:93307
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Small hand, Resting tremor, Tremor, Kyphoscoliosis, Short neck, Wrist flexion contracture, Facial...	OMIM:300055
Mitochondrial Complex I Deficiency, Nuclear Type 8	Dystonia, Axial dystonia, Kyphoscoliosis	OMIM:618230
Primary Dystonia, Dyt4 Type	Blepharospasm, Upper limb postural tremor, Generalized dystonia, Laryngeal dystonia, Kyphoscolios...	ORPHA:98805
Spastic Paraplegia 20, Autosomal Recessive	Distal amyotrophy, Clinodactyly, Lower limb muscle weakness, Kyphoscoliosis, Brachydactyly, Ulnar...	OMIM:275900
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi...	OMIM:609128
Rhizomelic Chondrodysplasia Punctata, Type 1	Rhizomelia, Flared metaphysis, Kyphoscoliosis, Flexion contracture, Coronal cleft vertebrae	OMIM:215100
Calvarial Doughnut Lesions With Bone Fragility	Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures	OMIM:126550
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Talipes equinovarus, Small for gestational age, Kyphosis	ORPHA:85288
Uruguay Faciocardiomusculoskeletal Syndrome	Joint contracture of the hand, Kyphoscoliosis, Camptodactyly of toe, Dislocation of toes, Left ve...	OMIM:300280
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Fibrous Dysplasia Of Bone	Osteomalacia, Abnormal tibia morphology, Bowing of the long bones, Abnormal morphology of the rad...	ORPHA:249
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Intellectual Disability-Developmental Delay-Contractures Syndrome	Distal amyotrophy, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foot contractures	ORPHA:3454
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Talipes equinovarus, Short foot, Scoliosis, Kyphosis	OMIM:300434
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Scoliosis, Amelia, Short femur	OMIM:601357
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Lumbar hyperlordosis, Small ep...	OMIM:608728
Kniest Dysplasia	Platyspondyly, Delayed epiphyseal ossification, Rhizomelia, Limitation of joint mobility, Tracheo...	OMIM:156550
Achondroplasia	Flat acetabular roof, Cervical spinal canal stenosis, Obesity, Limited elbow extension, Knee join...	ORPHA:15
Leukodystrophy, Hypomyelinating, 3	Lower limb amyotrophy, Joint contracture, Kyphoscoliosis	OMIM:260600
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Spondyloepimetaphyseal Dysplasia, Shohat Type	Platyspondyly, Delayed epiphyseal ossification, Metaphyseal irregularity, Fibular overgrowth, Mic...	OMIM:602557
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hyporeflexia of lower limbs, Pes cavus, Hip contracture, Knee flexion contracture, Distal lower l...	OMIM:615290
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid...	OMIM:301900
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Rocker bottom foot, Micrognathia, Neonatal death, Talipes equinovarus, Short neck...	OMIM:611890
Scholte Syndrome	Small hand, Patellar hypoplasia, Kyphoscoliosis, Acromicria, Short foot	OMIM:300977
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Gen...	OMIM:184095
Ck Syndrome	Long toe, Lumbar hyperlordosis, Long fingers, Kyphoscoliosis	ORPHA:251383
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short phalanx of finger, Short metacarpal, Short...	OMIM:180870
Combined Oxidative Phosphorylation Deficiency 32	Tremor, Kyphoscoliosis, Joint contracture, Dystonia, Choreoathetosis	OMIM:617664
Bruck Syndrome 2	Platyspondyly, Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to...	OMIM:609220
Heart Defects-Limb Shortening Syndrome	Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Death in infancy, Ab...	ORPHA:1354
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Shoulder girdle muscle atrophy, Muscular dystrophy, Macroglossia, Skeletal muscle atrophy, Should...	OMIM:606612
Stüve-Wiedemann Syndrome	Osteopenia, Absent patellar reflexes, Limitation of joint mobility, Micromelia, Camptodactyly of ...	ORPHA:3206
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Kyphoscoliosis, Intervertebral sp...	ORPHA:263463
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Recurrent fractures, Biconcave flattene...	OMIM:166220
Osteogenesis Imperfecta, Type Xiii	Platyspondyly, Wide distal femoral metaphysis, Recurrent fractures, Reduced bone mineral density,...	OMIM:614856
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Symphalangism of the thumb, Failure to thrive, Short toe, Clinodactyly, Broad hallux, Joint stiff...	OMIM:620494
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process, Skeletal m...	OMIM:300232
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Butterfly vertebrae, Short humerus, Short...	OMIM:607143
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Cl...	ORPHA:178148
Parkinson-Dementia Syndrome	Tremor, Kyphoscoliosis	OMIM:260540
Foxg1 Syndrome	Dystonia, Scoliosis, Choreoathetosis, Kyphoscoliosis	ORPHA:561854
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Kyphoscoliosis, Limb hypertonia, Dystonia, Flexion contracture, Choreoat...	ORPHA:59
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Congenital Disorder Of Glycosylation, Type Iik	Diaphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis	OMIM:614727
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis, Tremor, Skeletal muscle hypertrophy	ORPHA:99014
Pachydermoperiostosis	Small hand, Clubbing of toes, Limitation of joint mobility, Palmoplantar keratoderma, Abnormal ep...	ORPHA:2796
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis, Failure to thrive	OMIM:618234
Hyperparathyroidism, Transient Neonatal	Osteopenia, Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Subperiosteal bone form...	OMIM:618188
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Kyphoscoliosis	OMIM:615541
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Osteolysis, Joint stiffness, Beaking of vertebral bodie...	ORPHA:137834
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Failure to thrive, Osteo...	ORPHA:289157
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Death in adolescence,...	OMIM:122860
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Charcot-Marie-Tooth Disease, Type 4D	Distal amyotrophy, Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe	OMIM:601455
Mucopolysaccharidosis, Type Iva	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Joint hyp...	OMIM:253000
Spinocerebellar Ataxia, Autosomal Recessive 20	Clinodactyly, Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Camptodactyly, Macroglossia, Sc...	OMIM:616354
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Micrognathia, Abnormality of the cervical spine, Finger joint contracture, Osteoporosis, Scoliosi...	ORPHA:48431
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Squared...	ORPHA:93352
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Scoliosis, Kyphosis	ORPHA:1548
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis, Failure to thrive, Neonatal death	OMIM:618237
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Ulnar deviation of finger, Congenital kyphoscoliosis, Elbow flexion contr...	OMIM:121050
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Dystonia-Deafness Syndrome 1	Oculogyric crisis, Generalized dystonia, Leg dystonia, Kyphoscoliosis, Femoral retroversion	OMIM:607371
Joubert Syndrome 18	Kyphoscoliosis, Postaxial polydactyly, Talipes equinovarus, Bowing of the long bones, Camptodactyly	OMIM:614815
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Aplasia...	ORPHA:485
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Obesity, Large hands, Scoliosis, Kyphosis, Tapered finger	ORPHA:276630
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valgum, Reduced bone mi...	ORPHA:582
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Osteopenia, Proximal femoral epiphysiolysis, Short femoral neck, Short fourth meta...	OMIM:616723
Rahman Syndrome	Camptodactyly, Talipes equinovarus, Kyphoscoliosis	OMIM:617537
Flynn-Aird Syndrome	Kyphoscoliosis	OMIM:136300
Cerebrooculofacioskeletal Syndrome 4	Abnormality of the vertebral column, Slender long bone, Camptodactyly of finger, Failure to thriv...	OMIM:610758
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, ...	OMIM:618291
Anauxetic Dysplasia 3	Platyspondyly, Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finge...	OMIM:618853
Coffin-Siris Syndrome 6	Diaphragmatic eventration, Brachydactyly, Clinodactyly, Kyphoscoliosis	OMIM:617808
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Crisponi/Cold-Induced Sweating Syndrome 1	Radial deviation of finger, Elbow flexion contracture, Kyphoscoliosis, Opisthotonus, Short neck, ...	OMIM:272430
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Lumbar hyperlordosis, Obesity, Talipes equinovarus, Scoliosis, Kyphosis	OMIM:616756
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Talipes equinovarus, Mac...	OMIM:151800
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Talipes equinovarus, Acute rhabdomyolysis, Split hand, Kyphoscoliosis	OMIM:604168
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Micrognathia, Avascular necrosis of the capit...	ORPHA:1901
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Limitation of joint mobility, Slender long bone, Sacrococcygeal pilonidal abnormality, Hypoplasti...	ORPHA:2840
Clark-Baraitser syndrome	Genu recurvatum, Obesity, Genu valgum, Joint hypermobility, Scoliosis, Kyphosis, Short palm, Tape...	OMIM:300602
Microphthalmia, Syndromic 13	Kyphoscoliosis	OMIM:300915
Carpenter Syndrome	Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Kyphoscol...	ORPHA:65759
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Death in childhood, Hip contr...	OMIM:210710
Joint Laxity, Short Stature, And Myopia	Talipes equinovarus, Cervical kyphosis, Kyphoscoliosis	OMIM:617662
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Failure to thrive, Hip dysplasia	OMIM:620007
Cerebrooculofacioskeletal Syndrome 1	Joint contracture of the hand, Elbow flexion contracture, Knee flexion contracture, Kyphoscoliosi...	OMIM:214150
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim...	OMIM:183900
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Bilateral talipes equi...	OMIM:253010
Hypophosphatemic Bone Disease	Bowing of the legs, Rickets, Osteomalacia	OMIM:146350
Basilar Impression, Primary	Short neck, Limb muscle weakness, Kyphoscoliosis	OMIM:109500
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hypermobility	ORPHA:319199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Radioulnar...	ORPHA:536467
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Kyphoscoliosis, Arachnodactyly, Long toe, Flexion contracture	ORPHA:75496
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Bilateral talipes equinovarus, Cortical irregularity, Micrognathia...	OMIM:249420
X-Linked Hypophosphatemia	Flattening of the talar dome, Upper limb metaphyseal widening, Shortening of the talar neck, Rick...	ORPHA:89936
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Bowing of the long bones, Short neck, Arthritis,...	ORPHA:61
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hyperextensibility of the finger joints, Femoral bowing, Increased sus...	OMIM:231070
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density, Kyphosis	ORPHA:2617
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Abnormal vertebral morphology, Increased vertebral height, Kyphoscoliosis, Hyperlordosis, Kinetic...	OMIM:616817
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Decreased skul...	ORPHA:666
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Dysplas...	ORPHA:536471
Seckel Syndrome 8	Kyphoscoliosis	OMIM:615807
Ullrich Congenital Muscular Dystrophy 1A	Increased variability in muscle fiber diameter, Muscular dystrophy, Generalized amyotrophy, Incre...	OMIM:254090
Warburg Micro Syndrome 1	Overlapping toe, Kyphoscoliosis	OMIM:600118
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Tremor, Kyphoscoliosis	ORPHA:3077
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Abnormal fibular epiphysis morphology, Kyphoscoliosis	ORPHA:96190
Czech Dysplasia	Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Thoracic kyphosis, In...	OMIM:609162
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Platyspondyly, Osteopenia, Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal syno...	OMIM:615349
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:99956
Masa Syndrome	Pes cavus, Talipes equinovarus, Hyperlordosis, Adducted thumb, Kyphosis	OMIM:303350
13Q12.3 Microdeletion Syndrome	Camptodactyly, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Kyphoscoliosis	ORPHA:412035
Autosomal Recessive Spastic Paraplegia Type 77	Intention tremor, Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Lower limb amyotrophy	ORPHA:466722
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Failure to thrive, Increased bone mineral density, Recurrent fractures, Short humerus...	OMIM:239000
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Overlapping toe, Decreased body weight, Arachnodactyly, Femur fracture...	OMIM:605822
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Kyphoscoliosis, Talipes equinovarus, Short neck, Thin bony cortex, Long fingers, Ost...	OMIM:309583
Oculodentodigital Dysplasia	Toe syndactyly, Palmoplantar keratoderma, Abnormal form of the vertebral bodies, Cranial hyperost...	ORPHA:2710
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susceptibility to...	OMIM:146300
Three M Syndrome 3	Slender long bone, Increased vertebral height, Decreased body weight, Joint hypermobility, Short ...	OMIM:614205
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Macroglossia, Muscular dystrophy, Shoulder girdle muscle weakness, Calf muscle hypertrophy, Hyper...	OMIM:607155
Infantile Systemic Hyalinosis	Osteopenia, Failure to thrive, Micromelia, Osteomalacia, Camptodactyly of finger, Joint stiffness...	ORPHA:2176
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Shoulder flexion contracture, Elbow flexion contracture, Ulnar dev...	OMIM:193700
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Failure to thrive in infancy, Obesity, Short foot, ...	OMIM:615547
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, 11 pairs of ribs, Recurrent fr...	ORPHA:140
Autosomal Recessive Spastic Paraplegia Type 9B	Postural tremor, Skeletal muscle atrophy, Kyphoscoliosis	ORPHA:447760
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Hyperlordosis, Torticol...	OMIM:128100
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Kyphoscoliosis	OMIM:617105
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Distal amyotrophy, Exaggerated startle response, Flexion contracture, Scoliosis, Kyphosis	OMIM:609541
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Large for gestational age, Micrognathia, Hypoplastic pelvis, Cuboi...	OMIM:612731
Bent Bone Dysplasia Syndrome 2	Platyspondyly, Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic...	OMIM:620076
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Arachnodactyly, Adducted thumb, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Abnormal metap...	ORPHA:1798
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis	OMIM:300886
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis	ORPHA:505652
Multiple Osteochondromas	Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp...	ORPHA:321
Congenital Contractural Arachnodactyly	Congenital contracture, Congenital kyphoscoliosis, Arthrogryposis multiplex congenita, Camptodact...	ORPHA:115
X-Linked Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98863
Flynn-Aird Syndrome	Joint stiffness, Bone cyst, Cachexia, Scoliosis, Kyphosis	ORPHA:2047
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Osteogenesis Imperfecta, Type Xvii	Platyspondyly, Thin metacarpal cortices, Decreased muscle mass, Kyphoscoliosis, Bowed humerus, Ve...	OMIM:616507
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Lumbar hyperlordosis, C...	ORPHA:2848
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Radioulnar synosto...	OMIM:134780
Spondylometaphyseal Dysplasia, Schmidt Type	Platyspondyly, Abnormality of the vertebral column, Short femoral neck, Abnormality of the epiphy...	ORPHA:93316
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met...	OMIM:184253
Orofaciodigital Syndrome Vi	Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f...	OMIM:277170
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Hand clenching, Clubbing of toes, Failure to thrive, Knee dislocation, Talipes valgus...	OMIM:620083
Mucolipidosis Iii Gamma	Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Pes planus, Fla...	OMIM:252605
Acrootoocular Syndrome	Small hypothenar eminence, Short toe, Sandal gap, Short finger, Kyphoscoliosis, Abnormal finger f...	ORPHA:2980
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Brachy...	OMIM:277600
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ...	ORPHA:1858
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Marshall-Smith Syndrome	Failure to thrive, Slender long bone, Increased susceptibility to fractures, Joint hypermobility,...	ORPHA:561
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis	OMIM:610756
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Death in infancy, Flexion co...	ORPHA:1545
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ...	ORPHA:392
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Kyphosis, Congenital contracture, Arthrogryposis multiplex congeni...	ORPHA:352490
Sialidosis Type 2	Osteoporosis, Flexion contracture, Kyphosis, Pedal edema	ORPHA:87876
Catel-Manzke Syndrome	Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Micrognathia, Genu...	OMIM:616145
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi...	OMIM:619040
Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98853
Pycnodysostosis	Small hand, Acromelia, Hypoplastic iliac wing, Micrognathia, Short foot, Coronal craniosynostosis...	ORPHA:763
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Limitation of joint mobility, Carpal osteolysis, Slender long bone, Camptodactyly of finger, Meta...	ORPHA:2774
Congenital Myasthenic Syndrome	Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Kyp...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Spinal rigidity, Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Kyp...	ORPHA:98914
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Micrognathia, Clinodactyly of the 5th finger, Scoliosis, Arthrogryposis multiplex conge...	OMIM:615834
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Short neck...	OMIM:601559
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
Marinesco-Sjogren Syndrome	Failure to thrive, Short metacarpal, Pes planus, Short metatarsal, Flexion contracture, Scoliosis...	OMIM:248800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body...	OMIM:271640
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pe...	ORPHA:1328
Three M Syndrome 1	Short 5th finger, Hip dislocation, Slender long bone, Increased vertebral height, Clinodactyly of...	OMIM:273750
Ane Syndrome	Generalized amyotrophy, Ulnar deviation of the hand, Multiple joint contractures, Kyphoscoliosis	ORPHA:157954
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology, Wide anterior fontanel, Decreased body weight	OMIM:614886
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Flared metaphysis, Broad long bones, Abnormal cartilage morpholo...	ORPHA:2347
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Micrognathia, Abnormal metaphysis morphology, Jo...	ORPHA:2050
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Increased vertebra...	ORPHA:2616
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnor...	ORPHA:2655
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Ulnar deviation of finger, Broad femoral neck, Rhizomelia, Hypoplasia of the capital ...	OMIM:611209
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq...	OMIM:143095
Sandhoff Disease	Kyphosis, Failure to thrive	ORPHA:796
Monosomy 18P	Short neck, Brachydactyly, Generalized dystonia, Kyphoscoliosis	ORPHA:1598
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Tremor, Kyphoscoliosis, Focal dystonia, Tremor by anatomical site	ORPHA:99750
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Lower limb asymmetry, Sandal gap, Micrognathia, Postaxial polydac...	OMIM:615761
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Obesity, Pes cavus, Areflexia of lower limbs, Split hand, Scoliosis, Kyphosis	OMIM:618124
Cole-Carpenter Syndrome 2	Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Microretrognath...	OMIM:616294
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Epiphyseal dysplasia, Hypoplasia of the capital femoral ep...	OMIM:617425
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Joint stiffness, Micrognathia, Irregular fe...	OMIM:108300
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Bowing...	ORPHA:157215
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Distal arthrogryposis, Recurrent patellar ...	OMIM:108145
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Dislocation of the femoral head, Scoliosis, Kyphosis, Hyperextensibil...	OMIM:619797
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Hypercholanemia, Familial 1	Rickets, Failure to thrive	OMIM:607748
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Slender finger, Clinodactyly, Kyphoscoliosis, Short neck, Slender toe, Deviation of the 5th toe, ...	ORPHA:391408
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Slender long bone, Joint hypermobility, Spina bifida occulta, Reduced bone miner...	ORPHA:1185
Hypomelanosis Of Ito	Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Spinal canal stenosis, Elbow flexion contracture, Short finger, Lumb...	OMIM:608328
Osteogenesis Imperfecta, Type I	Osteopenia, Femoral bowing, Increased susceptibility to fractures, Biconcave flattened vertebrae,...	OMIM:166200
15Q24 Microdeletion Syndrome	Small hand, Kyphosis, Failure to thrive, Clinodactyly, Obesity, Abnormal thumb morphology, Joint ...	ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Pes cavus, Joint hypermobility, Pes planus, Brachydactyly, Abdominal obes...	OMIM:300354
Hypophosphatemic Rickets, Autosomal Dominant	Abnormality of the lower limb, Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph...	ORPHA:198
Mucolipidosis Type Iii Alpha/Beta	Diastasis recti, Kyphoscoliosis, Short neck, Flexion contracture, Right ventricular hypertrophy	ORPHA:423461
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	2-3 toe syndactyly, Scoliosis, Kyphoscoliosis	ORPHA:391307
Cardiac-Valvular Ehlers-Danlos Syndrome	Sandal gap, Genu valgum, Kyphoscoliosis, Left ventricular hypertrophy, Hallux valgus, Thoracolumb...	ORPHA:230851
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o...	OMIM:618476
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Failure to thrive, Joint stiffness, Genu valgum, Short neck, Abnormal metap...	ORPHA:583
Acromesomelic Dysplasia 2C	Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S...	OMIM:201250
Langer Mesomelic Dysplasia	Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ...	OMIM:249700
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Pes cavus, Flared iliac wing, Anterior beaking of lumbar v...	OMIM:230650
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Platyspondyly, Metaphyseal irregularity, Rhizomelia, Metaphyseal cupping, Flared metaphysis, Shor...	OMIM:608940
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Sclerosis of skull base, Increased intervertebral space, Diaph...	OMIM:619727
Tetrasomy 15Q26	Camptodactyly, Arachnodactyly, Kyphoscoliosis	OMIM:614846
Kagami-Ogata Syndrome	Diastasis recti, Kyphoscoliosis, Limb undergrowth, Long fingers, Flexion contracture, Coxa valga	OMIM:608149
Intellectual Developmental Disorder, Autosomal Dominant 53	Genu valgum, Short femur, Joint hypermobility	OMIM:617798
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Rickets, Failure to thrive, Death in childhood, Death in adolescence, Osteoporosis	OMIM:560000
Congenital Myopathy 13	Skeletal muscle atrophy, Kyphoscoliosis, Weakness of facial musculature, Fatty replacement of ske...	OMIM:255995
Spinocerebellar Ataxia, Autosomal Recessive 31	Tremor, Lumbar kyphoscoliosis, Clinodactyly of the 5th finger, Dystonia, Choreoathetosis	OMIM:619422
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Flexion contracture, Decreased muscle mass, Kyphoscoliosis	OMIM:614222
Larsen-Like Syndrome	Radial deviation of the 4th finger, Kyphoscoliosis, Talipes equinovarus, Bipartite calcaneus, Cli...	OMIM:608545
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Clinodactyly, Kyphoscoliosis, Talipes equinovarus, Brachydactyly, Camptodactyly, Macroglossia, Ne...	ORPHA:397709
Arthrogryposis Multiplex Congenita 5	Hand clenching, Arthrogryposis multiplex congenita, Hand tremor, Elbow flexion contracture, Kypho...	OMIM:618947
Autosomal Dominant Hypophosphatemic Rickets	Bowing of the legs, Rickets, Osteomalacia	ORPHA:89937
Myopathy, Centronuclear, 2	Pes cavus, Talipes equinovarus, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis	OMIM:255200
Bethlem Muscular Dystrophy	Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl...	ORPHA:610
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Abnormal form of the vertebral bodies, Camptodactyly of...	ORPHA:2839
X-Linked Dominant Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Abnorma...	ORPHA:35173
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle weakness, Elbow ...	ORPHA:2020
Acrorenal-Mandibular Syndrome	Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow flexion contracture, Rudi...	OMIM:200980
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Spondylolisthesi...	OMIM:252600
8Q24.3 Microdeletion Syndrome	Talipes, Short neck, Pes planus, Short hallux, Short 5th finger, Abnormal cricoid cartilage morph...	ORPHA:508488
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Obesity, Broad foot, Hyperlordosis, Brachydactyly, Kyphosis	ORPHA:3085
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hypermobility	ORPHA:1875
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abno...	ORPHA:93274
Musculocontractural Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Slender finger, Cervical kyphosis, Arthrogryposis multiplex congenita, ...	ORPHA:2953
Congenital Myopathy 22A, Classic	Micrognathia, Knee contracture, Hip contracture, Neonatal death, Thoracic scoliosis, Talipes, Pes...	OMIM:620351
Baralle-Macken Syndrome	Obesity, Pes planus, Kyphosis, Tapered finger	OMIM:619255
Thanatophoric Dysplasia, Type I	Platyspondyly, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bow...	OMIM:187600
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Micrognathia, Metat...	ORPHA:3082
Lopes-Maciel-Rodan Syndrome	Small hand, Ankle clonus, Short foot, Scoliosis, Kyphosis	OMIM:617435
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Punctate vertebral calcifications, Stippled calcification in carpal bones, Hemiatroph...	OMIM:302960
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Failure to thrive, Short 4th toe, Cone-shaped epiphyses of the phalanges of...	ORPHA:420794
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis	ORPHA:324410
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Sandal gap, Camptodactyly of finger, Obesity, Pes cavus, Joint hyperm...	ORPHA:85293
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:53721
Emanuel Syndrome	Multiple joint contractures, Congenital diaphragmatic hernia, Kyphoscoliosis, Scoliosis, Sacral d...	ORPHA:96170
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Genu varum, Scoliosis, Kyphosis...	ORPHA:2479
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis, Truncal obesity	ORPHA:2429
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Micrognathia, Joint hypermobility, 3-4...	OMIM:619951
Typical Nemaline Myopathy	Hip dislocation, Arthrogryposis multiplex congenita, Micrognathia, Genu valgum, Short neck, Hyper...	ORPHA:171436
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hypermobility	OMIM:614898
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ...	ORPHA:93357
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Micrognathia, Decreased calvarial ossification, Decreased body weight, Brachyd...	OMIM:618265
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Scoliosis, Biconcave vertebral bodies, Kyphoscoliosis	OMIM:236200
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hip dislocation, Joint hypermobility, Talipes equinovarus, Pes planus, Hallux valgus, Hyperlordos...	OMIM:617821
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Postaxial hand polydactyly...	ORPHA:2916
Robinow Syndrome, Autosomal Dominant 2	Mesomelia, Short distal phalanx of finger, Broad thumb, Clinodactyly, Partial duplication of thum...	OMIM:616331
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Micrognathia, Joint hypermobility, Talipes, Talipes equinovarus, ...	OMIM:300990
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets, Failure to thrive	OMIM:602722
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1883
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Obesity, Micrognathia, Short neck, Scoliosis, Kyphosis	ORPHA:3191
Mucopolysaccharidosis, Type Iiic	Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Kyphoscoliosis	OMIM:252930
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Congenital fibrosis of extraocular muscles, Genu valgum, Thoracic scoliosis, Kyphosco...	ORPHA:300570
19P13.3 Microduplication Syndrome	Clinodactyly, Long fingers, Kyphoscoliosis	ORPHA:447980
Wieacker-Wolff Syndrome, Female-Restricted	Hip dislocation, Microretrognathia, Radial deviation of the hand, Hip contracture, Limited should...	OMIM:301041
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Arthrogryposis multiplex congenita, Finger syndactyly, Sandal gap, Deep plantar...	ORPHA:254346
Becker Nevus Syndrome	Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Spina bifida occulta, Scoliosis, Kyp...	ORPHA:64755
Arthrogryposis And Ectodermal Dysplasia	Joint contracture of the hand, Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryp...	OMIM:601701
Aspartylglucosaminuria	Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Abnormal morph...	ORPHA:93
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening...	OMIM:114290
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Abnormal mitochondrial shape, Failure to thrive, Short humerus, Polydactyly, Flexion contracture,...	ORPHA:17
Harrod Syndrome	Abnormal pelvic girdle bone morphology, Failure to thrive, Abnormal shoulder morphology, Joint hy...	ORPHA:2115
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Joint contracture, Osteoporosis, Scoliosis, Kyphosis	OMIM:615381
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Fused cervical v...	ORPHA:2522
Martsolf Syndrome 1	Broad femoral neck, Tracheomalacia, Short toe, Slender ulna, Talipes valgus, Lumbar hyperlordosis...	OMIM:212720
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Short neck, Short foot, Scoliosis, Kyphosis, Short palm	ORPHA:238750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Clinodactyly, Radial deviation of finger, Kyphoscoliosis, Talipes equinovarus, Hemivertebrae, Mac...	OMIM:301040
Sjögren-Larsson Syndrome	Joint stiffness, Scoliosis, Kyphosis	ORPHA:816
Pelger-Huet Anomaly	Short 3rd metacarpal, Failure to thrive, Upper limb undergrowth, Short 5th metacarpal, Pes cavus,...	OMIM:169400
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Joint stiffness, Biconcave vertebral bo...	OMIM:607014
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Ab...	ORPHA:192
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Chromosome 2P16.1-P15 Deletion Syndrome	Joint contracture of the hand, Kyphoscoliosis, Arachnodactyly, Metatarsus adductus, Camptodactyly...	OMIM:612513
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, Sh...	OMIM:271665
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Joint hyper...	ORPHA:2502
Wieacker-Wolff Syndrome	Hip dislocation, Arthrogryposis multiplex congenita, Micrognathia, Congenital foot contractures, ...	OMIM:314580
Mucopolysaccharidosis, Type Vi	Hypoplasia of the odontoid process, Anterior wedging of L1, Lumbar hyperlordosis, Genu valgum, An...	OMIM:253200
Galloway-Mowat Syndrome 7	Clinodactyly, Partial duplication of thumb phalanx, Kyphoscoliosis, Arachnodactyly, Hallux valgus	OMIM:618348
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, J...	ORPHA:1005
Schwartz-Jampel Syndrome	Micrognathia, Genu valgum, Hip contracture, Decreased body weight, Bowing of the long bones, Tali...	ORPHA:800
Autosomal Recessive Spastic Paraplegia Type 23	Kyphoscoliosis	ORPHA:101003
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap...	OMIM:276820
Gm1 Gangliosidosis	Platyspondyly, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Failu...	ORPHA:354
Shashi-Pena Syndrome	Kyphosis, Cervical C2/C3 vertebral fusion, Osteoporosis, Scoliosis, Short metacarpal	OMIM:617190
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteomalacia, Micrognathia, Short neck, Abnormal metacarpal morphology, Large hands, Aplasia/hypo...	ORPHA:2636
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Scoliosis, Kyph...	ORPHA:79107
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Scoliosis, Kyphosis	ORPHA:2598
Spondyloenchondrodysplasia With Immune Dysregulation	Platyspondyly, Metaphyseal irregularity, Lumbar hyperlordosis, Metaphyseal sclerosis, Increased i...	OMIM:607944
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Wide anterior fontanel, Large for gestational age, Micrognathia, Kyphosis, Sacral dimple	OMIM:618272
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Osteopenia, Kyphosis, Truncal obesity	OMIM:219080
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Kyphoscoliosis	OMIM:620075
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Calcification of the auricular cartilage, Abnormal form of the vertebral bodies, Osteolysis, Bone...	ORPHA:3042
Neurodegeneration And Seizures Due To Copper Transport Defect	Talipes equinovarus, Short tibia, Short femur	OMIM:620306
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteoporosis, Osteopenia, Kyphosis, Truncal obesity	OMIM:610475
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Joint stiffness, Micrognath...	ORPHA:2062
Loeys-Dietz Syndrome 5	Bilateral coxa valga, Decreased muscle mass, Cervical spine instability, Spondylolisthesis, Kypho...	OMIM:615582
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talip...	OMIM:265000
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger,...	ORPHA:261318
Gracile Bone Dysplasia	Slender long bone, Failure to thrive, Flared metaphysis, Death in infancy, Decreased skull ossifi...	OMIM:602361
Autosomal Recessive Spondylocostal Dysostosis	Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger, Vertebral segm...	ORPHA:2311
Mcdonough Syndrome	Cachexia, Micrognathia, Scoliosis, Kyphosis	ORPHA:2471
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets, Failure to thrive	OMIM:211600
Pontocerebellar Hypoplasia, Type 10	Tapered finger, Short neck, Limb hypertonia, Kyphoscoliosis	OMIM:615803
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic ilia, Failure to thrive, Camptodactyly of finger, Slender build, Cervical...	ORPHA:3455
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Hip dislocation, Finger syndactyly, Rudimentary fibula, Micrognathia, Butte...	ORPHA:958
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Structural foot deformity, Obesity, Scoliosis, Hip dislocation	ORPHA:464282
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia...	OMIM:304120
Momo Syndrome	Long foot, Obesity, Large for gestational age, Femoral bowing, Short sternum, Short neck, Large h...	ORPHA:2563
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Mesomelia, Rhizomelia, Lumbar hyperlordosis, Femoral bowing, Tibial bowing, Neonat...	OMIM:616482
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Rickets, Failure to thrive	OMIM:611590
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Micrognathia, Genu valgum...	OMIM:224690
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology...	ORPHA:251014
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Micrognathia, Arachnodactyly, Radioulnar s...	OMIM:248700
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Hip dislocation, Sandal gap, Knee dislocation, Abnormal foot morphology, Micrognathia...	ORPHA:536532
Mccune-Albright Syndrome	Aneurysmal bone cyst, Osteomalacia, Monostotic fibrous dysplasia, Abnormal femur morphology, Fibr...	ORPHA:562
Marfanoid Habitus With Situs Inversus	Genu recurvatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the finger joints	OMIM:609008
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short 5th finger, Slender finger, Small hand, Obesity, Micrognathia, Genu valgum, Pes valgus, Tho...	OMIM:618443
Cartilage-Hair Hypoplasia	Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ...	OMIM:250250
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Atlantoaxial instability, Skeletal muscle atrophy, Type 1 muscle fiber predominance, Myopathy, Ky...	OMIM:614557
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Hajdu-Cheney Syndrome	Micrognathia, Decreased skull ossification, Absent frontal sinuses, Bowing of the long bones, Sho...	ORPHA:955
Melnick-Needles Syndrome	Short distal phalanx of finger, Hypoplastic scapulae, Failure to thrive, Flared metaphysis, Cone-...	OMIM:309350
Wiedemann-Rautenstrauch Syndrome	Hypoplastic ilia, Failure to thrive, Clinodactyly, Slender long bone, Long foot, Micrognathia, Sh...	OMIM:264090
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Limb undergrowth, Joint contracture, Kyphoscoliosis	OMIM:618005
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Long foot, Slender build, Scoliosis, Kyphosis	OMIM:300676
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Microcephalic osteodysplastic primordial dwarfism, type III	Ulnar deviation of finger, Slender long bone, Hypoplasia of the capital femoral epiphysis, Disloc...	OMIM:210730
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Small hand, Rocker bottom foot, Clinodactyly, Overlapping toe, Knee flexion contracture, Hip cont...	ORPHA:488642
De Barsy Syndrome	Decreased muscle mass, Kyphoscoliosis, Talipes equinovarus, Adducted thumb, Coxa vara, Athetosis	ORPHA:2962
Fanconi-Bickel Syndrome	Bowing of the long bones, Osteopenia, Rickets, Failure to thrive	ORPHA:2088
Alg1-Cdg	Limitation of joint mobility, Scoliosis, Kyphosis	ORPHA:79327
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Kyphosis	ORPHA:85317
Tatton-Brown-Rahman Syndrome	Widely spaced toes, Short toe, Kyphoscoliosis	ORPHA:404443
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Death in childhood, Decreased body ...	OMIM:602535
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero...	OMIM:207410
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Genu valgum, Metaphyseal sclerosis, Abnormal limb epiphysis...	ORPHA:2976
Fliedner-Zweier Syndrome	Obesity, Joint hypermobility, Pes planus, Hallux valgus, Scoliosis, Kyphosis	OMIM:620511
Pituitary Adenoma 4, Acth-Secreting	Obesity, Biconcave vertebral bodies, Abdominal obesity, Osteoporosis, Vertebral compression fract...	OMIM:219090
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Prader-Willi Syndrome	Osteopenia, Small hand, Class III obesity, Clinodactyly, Radial deviation of finger, Failure to t...	OMIM:176270
Neu-Laxova Syndrome	Osteopenia, Rickets, Arthrogryposis multiplex congenita, Micromelia, Osteomalacia, Micrognathia, ...	ORPHA:2671
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Failure to thrive, Slender build, Reduced bone mineral density, Joint hyperm...	OMIM:613658
Spinocerebellar Ataxia, Autosomal Recessive 8	Pes cavus, Scoliosis, Kyphosis	OMIM:610743
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral wedging, Kyphoscoliosis, Polydactyly, Short 4th meta...	OMIM:109400
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Joint stiffness, Cachexia, Scoliosis, Kyphosis	ORPHA:702
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Intellectual Developmental Disorder, Autosomal Recessive 78	Clinodactyly of the 5th finger, Brachydactyly, Kyphoscoliosis	OMIM:620237
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Bicoronal synostosis, Joint hypermobility, Osteoporosis, Scoliosis, Kyphosis	OMIM:619718
Hemifacial Atrophy, Progressive	Kyphosis, Short mandibular rami	OMIM:141300
Cohen Syndrome	Finger syndactyly, Sandal gap, Failure to thrive in infancy, Obesity, Micrognathia, Genu valgum, ...	ORPHA:193
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Coarse metaphyseal trabecularization, Flared metaphysis, Sandwich appearance of vertebral bodies,...	OMIM:620558
Intellectual Developmental Disorder, Autosomal Dominant 57	Failure to thrive, Joint hypermobility, Pes planus, Brachydactyly, Absent fourth finger distal in...	OMIM:618050
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ...	OMIM:619557
Atypical Rett Syndrome	Small hand, Short foot, Scoliosis, Kyphosis	ORPHA:3095
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Kyphoscoliosis	ORPHA:397695
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteoporosis, Osteopenia, Kyphosis, Truncal obesity	OMIM:610489
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Decreased skull ossification, Severe f...	ORPHA:3472
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Micrognathia, Joint hypermobili...	ORPHA:2789
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Jaberi-Elahi Syndrome	Hand clenching, Failure to thrive, Joint stiffness, Joint hypermobility, Talipes equinovarus, Sco...	OMIM:617988
Lowe Oculocerebrorenal Syndrome	Platyspondyly, Joint contracture of the hand, Finger swelling, Rickets, Failure to thrive, Hip di...	OMIM:309000
Distal Triplication 15Q	Large for gestational age, Micrognathia, Arachnodactyly, Camptodactyly, Craniosynostosis, Flexion...	ORPHA:314588
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Mesomelia, Tarsometatarsal synostosis, Microretrognathia, Micromel...	OMIM:600383
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,...	OMIM:613091
Spastic Paraplegia 46, Autosomal Recessive	Pes cavus, Scoliosis, Kyphosis, Ankle clonus	OMIM:614409
Schimmelpenning-Feuerstein-Mims Syndrome	Abnormal finger morphology, Abnormal toe morphology, Kyphoscoliosis	OMIM:163200
Kyphoscoliotic Ehlers-Danlos Syndrome	Atlantoaxial instability, Congenital kyphoscoliosis, Skeletal muscle atrophy, Myopathy, Kyphoscol...	ORPHA:536545
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Kyphosis	OMIM:615433
Gm1-Gangliosidosis, Type I	Joint stiffness, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral...	OMIM:230500
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Small hand, Failure to thrive, Increased body weight, Hip dysplasia, Abdominal obesit...	ORPHA:398069
Monosomy 18Q	Kyphoscoliosis, Arachnodactyly, Talipes equinovarus, Atlantoaxial abnormality, Choreoathetosis, T...	ORPHA:1600
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Small hand, Failure to thrive, Hip dysplasia, Short foot, Flexion contracture, Overweight, Scolio...	ORPHA:500055
Mulibrey Nanism	Absent frontal sinuses, Thickened cortex of long bones, Hypoplastic frontal sinuses	OMIM:253250
Osteogenesis Imperfecta, Type Xx	Vertebral compression fracture, Kyphoscoliosis	OMIM:618644
Kagami-Ogata Syndrome	Short neck, Diastasis recti, Coxa valga, Kyphoscoliosis	ORPHA:254519
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Elbow flexion contracture, Obesity, Genu valgum, Hip contracture, Finger joint hypermobility, Sco...	OMIM:618493
Hajdu-Cheney Syndrome	Foot acroosteolysis, Tall lumbar vertebral bodies, Dislocated radial head, Genu valgum, Fibular b...	OMIM:102500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis	OMIM:603387
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
You-Hoover-Fong Syndrome	Brachydactyly, Clinodactyly, Kyphoscoliosis	OMIM:616954
Congenital Heart Defects And Skeletal Malformations Syndrome	Failure to thrive, Sandal gap, Joint hypermobility, Arachnodactyly, Pes planus, Camptodactyly, Cl...	OMIM:617602
Myhre Syndrome	Platyspondyly, Cone-shaped epiphysis, Limitation of joint mobility, Clinodactyly, Short toe, Shor...	OMIM:139210
Occipital Horn Syndrome	Platyspondyly, Genu valgum, Limited elbow extension, Short humerus, Joint hypermobility, Short cl...	OMIM:304150
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Kyphosis, Joint stiffness, Genu valgum, Arachnodactyly, Osteoporosis, Scoliosis, Recurrent fractures	ORPHA:394
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Kyphosis	OMIM:300861
Bile Acid Synthesis Defect, Congenital, 1	Rickets, Failure to thrive	OMIM:607765
X-Linked Intellectual Disability Due To Gria3 Mutations	Genu recurvatum, Slender build, Joint hypermobility, Pes planus, Scoliosis, Kyphosis	ORPHA:364028
Hurler-Scheie Syndrome	Camptodactyly of finger, Joint stiffness, Contracture of the distal interphalangeal joint of the ...	OMIM:607015
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Kyphoscoliosis, Arachnodactyly, Slender toe, Long toe, Camptodactyly, Kyph...	ORPHA:3063
Cystinosis	Rickets, Failure to thrive	ORPHA:213
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Failure to thrive, Deep plantar creases, Generalized join...	ORPHA:2834
Trisomy 9P	Short neck, Brachydactyly, Clinodactyly of the 5th finger, Scoliosis, Kyphosis, Sacral dimple	ORPHA:236
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aplasia of the 1st metacarpal, Unilateral radial aplasia, Failure to thrive, Micrognathia, Partia...	ORPHA:476126
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Flexion contracture of finger, Camptodactyly, Scoliosis, Kyphosis	ORPHA:88628
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Short ribs, Short clavicles, Sagittal cran...	OMIM:603116
Distal 16P11.2 Microdeletion Syndrome	Arachnodactyly, Obesity, Kyphosis	ORPHA:261222
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	ORPHA:352447
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis	ORPHA:77300
Multiple Pterygium-Malignant Hyperthermia Syndrome	Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Arachnodactyl...	ORPHA:2215
3C Syndrome	Finger syndactyly, Abnormal hip bone morphology, Micrognathia, Death in infancy, Missing ribs, Sh...	ORPHA:7
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Contractures of the large joints, Failure to thrive, Micrognathia, Lo...	ORPHA:521426
Lateral Meningocele Syndrome	Sclerosis of skull base, Micrognathia, Biconcave vertebral bodies, Joint hypermobility, Short nec...	OMIM:130720
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Prominent protruding coccyx, Joint hypermobility, Short neck, Prom...	OMIM:300966
Mgat2-Cdg	Osteopenia, Failure to thrive, Brachydactyly, Scoliosis, Kyphosis	ORPHA:79329
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp...	OMIM:300967
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asymmetry, Micrognathia, 2...	ORPHA:404440
Koolen-De Vries Syndrome	Slender finger, Hip dislocation, Small for gestational age, Failure to thrive, Prominent fingerti...	OMIM:610443
Multiple Endocrine Neoplasia, Type Iib	Proximal femoral epiphysiolysis, Failure to thrive in infancy, Pes cavus, Joint hypermobility, Hy...	OMIM:162300
Emanuel Syndrome	Congenital hip dislocation, Failure to thrive, Micrognathia, Joint contracture, Scoliosis, Kyphos...	OMIM:609029
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Small for gestational age, Abnormality of the medullary cavity of...	OMIM:127000
Myasthenic Syndrome, Congenital, 20, Presynaptic	Arthrogryposis multiplex congenita, Pes planus, Scoliosis, Kyphosis	OMIM:617143
Stickler Syndrome	Platyspondyly, Hip dislocation, Microretrognathia, Abnormal epiphysis morphology, Abnormal form o...	ORPHA:828
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Thumb contracture, Short neck, Small proximal tibial epiphyses, Short 1st metacarpal...	ORPHA:96334
Rett Syndrome	Cachexia, Short foot, Scoliosis, Kyphosis	OMIM:312750
Zimmermann-Laband Syndrome 2	Short neck, Kyphosis	OMIM:616455
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form of the vertebra...	ORPHA:280
Spondyloenchondrodysplasia	Platyspondyly, Hypoplastic ilia, Short distal phalanx of finger, Limb undergrowth, Arthritis, Met...	ORPHA:1855
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Sandal gap, Micrognathia, 2-3 toe syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Scol...	OMIM:617061
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Congenital Bile Acid Synthesis Defect Type 2	Rickets, Failure to thrive	ORPHA:79303
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Non-obstructive azoospermia, Lumbar hyperlordosis, Contracture of the proximal interp...	ORPHA:2232
Alkaptonuria	Limited hip movement, Intervertebral disk degeneration, Thickened Achilles tendon, Low back pain,...	OMIM:203500
Congenital Disorder Of Glycosylation, Type Il	Short neck, Hip dislocation, Kyphosis, Failure to thrive	OMIM:608776
Mevalonic Aciduria	Kyphoscoliosis	OMIM:610377
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Failure to thrive, Micrognathia, Postaxial polydactyly, Palmopl...	OMIM:617527
Microphthalmia, Lenz Type	Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Hyperlordosis, Clinodac...	ORPHA:568
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Failure to...	OMIM:269150
Abetalipoproteinemia	Distal lower limb muscle weakness, Talipes equinovarus, Myopathy, Kyphoscoliosis	ORPHA:14
Mitochondrial Dna Depletion Syndrome 11	Kyphosis, Neuropathic spinal arthropathy, Spinal rigidity	OMIM:615084
Koolen-De Vries Syndrome	Hip dislocation, Joint hypermobility, Vertebral segmentation defect, Arachnodactyly, Vertebral fu...	ORPHA:96169
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Microretrognathia, Failure to thrive, Slender long bone, ...	OMIM:278250
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Tapered finger, Short humerus, Short femur	OMIM:618367
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Broad hallux, Elbow flexion contracture, Overlapping to...	ORPHA:96149
Marfanoid-Progeroid-Lipodystrophy Syndrome	Arachnodactyly, Pes valgus, Pes planus, Long fingers, Craniosynostosis, Kyphosis, Hyperextensibil...	OMIM:616914
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Arachnodactyly, Facial hypotonia, Kyphosis	ORPHA:457359
Marfan Syndrome	Decreased muscle mass, Equinus calcaneus, Spondylolisthesis, Kyphoscoliosis, Arachnodactyly, Meta...	OMIM:154700
Mucolipidosis Type Ii	Hip dislocation, Limitation of joint mobility, Limited wrist movement, Decreased movement range i...	ORPHA:576
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Large for gestational age, Rickets	OMIM:616026
2P15P16.1 Microdeletion Syndrome	Toe clinodactyly, Failure to thrive, Sandal gap, Camptodactyly of finger, Pes planus, Metatarsus ...	ORPHA:261349
Robinow Syndrome	Short distal phalanx of finger, Kyphoscoliosis, Bifid distal phalanx of the thumb, Brachydactyly,...	ORPHA:97360
Leopard Syndrome 1	Spina bifida occulta, Short neck, Scapular winging, Kyphoscoliosis	OMIM:151100
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Aplastic clavicle, Micrognathia, Tarsal synostosis, Kyphosis, Wide ante...	ORPHA:85199
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Enthesitis, Kyphosis	OMIM:106300
Trisomy 13	Abnormal pelvic girdle bone morphology, Ectrodactyly, Postaxial hand polydactyly, Scoliosis, Kyph...	ORPHA:3378
Autosomal Recessive Robinow Syndrome	Mesomelia, Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syn...	ORPHA:1507
Intellectual Developmental Disorder, X-Linked 112	Scoliosis, Kyphosis, Kyphoscoliosis	OMIM:301111
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Failure to thrive, Death in childhood, Death in infancy, Flexion contracture, Kyphosis	OMIM:212065
Mosaic Trisomy 20	Clinodactyly, Spinal canal stenosis, Micrognathia, Vertebral segmentation defect, Down-sloping sh...	ORPHA:1724
Celiac Disease, Susceptibility To, 1	Osteoporosis, Weight loss, Rickets, Failure to thrive	OMIM:212750
Cog1-Cdg	Rhizomelia, Butterfly vertebrae, Kyphoscoliosis, Vertebral segmentation defect, Talipes equinovar...	ORPHA:263508
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Brachydactyly, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:619123
Robinow Syndrome, Autosomal Dominant 3	Mesomelia, Broad thumb, Clinodactyly, Micrognathia, Short neck, Brachydactyly, Camptodactyly, Sho...	OMIM:616894
Oculocerebrorenal Syndrome Of Lowe	Platyspondyly, Hip dislocation, Abnormal epiphysis morphology, Failure to thrive, Osteomalacia, J...	ORPHA:534
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Broad distal phalanx of finger, Prominent crus of helix, Elbow flexion contracture, Hypoplasia of...	OMIM:619194
Basel-Vanagaite-Smirin-Yosef Syndrome	Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the...	ORPHA:464738
Mucopolysaccharidosis, Type Ii	Pes cavus, Short neck, Split hand, Tracheobronchomalacia, Flexion contracture, Kyphosis	OMIM:309900
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Progressive congenital scoliosis, Platyspondyly, Kyphoscoliosis, Arachnodactyly, Talipes equinovarus	OMIM:225400
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Long foot, Large for gestational age, Joint hypermobility, Arachnodactyly, Pes planus, Hyperlordo...	OMIM:617011
Multiple Endocrine Neoplasia Type 2	Proximal amyotrophy, Hyperlordosis, Kyphoscoliosis	ORPHA:653
Alexander Disease	Osteopenia, Failure to thrive, Short neck, Hyperlordosis, Scoliosis, Kyphosis	ORPHA:58
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Overlapping toe, Overlapping fingers, Tibia...	ORPHA:798
Noonan Syndrome 14	Clinodactyly, Limited elbow extension, Short neck, Pes planus, Pes valgus, Kyphosis	OMIM:619745
Wolf-Hirschhorn Syndrome	Hip dislocation, Small for gestational age, Pseudoepiphyses of the metacarpals, Abnormal form of ...	OMIM:194190
Rothmund-Thomson Syndrome, Type 2	Small hand, Short thumb, Kyphoscoliosis, Talipes equinovarus, Short foot, Short palm	OMIM:268400
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Failure to thrive, Camptodactyly of finger, Joint stiffnes...	ORPHA:2461
Srd5A3-Cdg	Abnormal sacrum morphology, Palmoplantar keratoderma, Kyphosis	ORPHA:324737
Orofaciodigital Syndrome Iii	Short sternum, Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly	OMIM:258850
Cutis Laxa, Autosomal Recessive, Type Iid	Camptodactyly, Talipes equinovarus, Joint contracture, Kyphoscoliosis	OMIM:617403
Pancreatic Triacylglycerol Lipase Deficiency	Osteoporosis, Weight loss, Rickets, Osteomalacia	ORPHA:309031
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Cachexia, Genu varum, Scoliosis, Kyphosis	ORPHA:1969
Genitopalatocardiac Syndrome	Micrognathia, Brachydactyly, Postaxial hand polydactyly, Scoliosis, Kyphosis	ORPHA:2075
Cockayne Syndrome B	Kyphosis, Failure to thrive, Limitation of joint mobility, Square pelvis bone, Ivory epiphyses of...	OMIM:133540
Sialidosis Type 1	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:812
Mend Syndrome	Wide anterior fontanel, Failure to thrive, Broad hallux, Overlapping toe, Micrognathia, Overlappi...	ORPHA:401973
Cockayne Syndrome Type 2	Flexion contracture, Scoliosis, Kyphosis	ORPHA:90322
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Dyrk1A-Related Intellectual Disability Syndrome	Acromesomelia, Toe syndactyly, Kyphosis, Failure to thrive, Structural foot deformity, Multiple j...	ORPHA:464306
Fanconi-Bickel Syndrome	Rickets, Failure to thrive, Osteomalacia	OMIM:227810
Marfan Syndrome	Osteopenia, Slender build, Micrognathia, Reduced bone mineral density, Spondylolisthesis, Limited...	ORPHA:558
Monosomy 9Q22.3	Plantar pits, Abnormality of the vertebral column, Large for gestational age, Joint hypermobility...	ORPHA:77301
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Kyphosis, Failure to thrive, Short toe, Abnormality of the cervical sp...	ORPHA:464311
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Anterior concavity of thoracic ...	OMIM:216340
Micro Syndrome	Joint stiffness, Micrognathia, Scoliosis, Kyphosis	ORPHA:2510
Incontinentia Pigmenti	Hemivertebrae, Kyphoscoliosis	OMIM:308300
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Micrognathia, Death in childhood, Decreased body weight, Scoliosis, Kyphosis, Increased femoral a...	OMIM:619005
Distal Renal Tubular Acidosis	Rickets, Failure to thrive, Osteomalacia, Increased susceptibility to fractures, Reduced bone min...	ORPHA:18
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Synostosis involving the 1st metacarpal, Intention tremor, Kyphoscoliosis, Left ventricular hyper...	ORPHA:466791
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Overlapping toe, Knee flexion contracture, Kyphoscoliosis, Talipes equinovarus, C...	OMIM:617402
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Genu valgum, Short neck, Pes planus, Splayed toes, Abnormal forearm bone morphology...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Genu valgum, Short neck, Pes planus, Splayed toes, Abnormal forearm bone morphology...	ORPHA:99228
Monosomy X	Micrognathia, Genu valgum, Short neck, Pes planus, Splayed toes, Abnormal forearm bone morphology...	ORPHA:99226
Turner Syndrome	Micrognathia, Genu valgum, Short neck, Pes planus, Splayed toes, Abnormal forearm bone morphology...	ORPHA:881
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Tracheomalacia, Cervical spinal canal stenosis, Prominent fingertip pa...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Tracheomalacia, Cervical spinal canal stenosis, Prominent fingertip pa...	ORPHA:363958
Intellectual Developmental Disorder, Autosomal Dominant 73	Toe clinodactyly, Lumbar hyperlordosis, Limited elbow extension, Knee flexion contracture, Joint ...	OMIM:620450
Neurofibroma	Spinal canal stenosis, Kyphoscoliosis	ORPHA:252183
Brown-Vialetto-Van Laere Syndrome 1	Scoliosis, Kyphosis, Death in childhood, Ankle clonus	OMIM:211530
Mend Syndrome	Microretrognathia, Failure to thrive, Broad hallux, Overlapping toe, Micrognathia, Overlapping fi...	OMIM:300960
Fucosidosis	Anterior beaking of lumbar vertebrae, Kyphosis, Failure to thrive	ORPHA:349
Zttk Syndrome	Small hand, Failure to thrive, Joint hypermobility, Hemivertebrae, Craniosynostosis, Flexion cont...	OMIM:617140
Alstrom Syndrome	Obesity, Polydactyly, Pes planus, Truncal obesity, Scoliosis, Kyphosis, Hyperostosis frontalis in...	OMIM:203800
Primrose Syndrome	Short distal phalanx of finger, Calcification of the auricular cartilage, Kyphosis, Pes cavus, Ge...	OMIM:259050
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis	OMIM:619909
Floating-Harbor Syndrome	Broad thumb, Short 1st metacarpal, Ivory epiphyses of the distal phalanges of the hand, Short 5th...	OMIM:136140
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Overlapping fingers, Micrognathia, Knee flexion contracture, Bilateral talipes equinovarus, Kyphosis	OMIM:619708
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Slender finger, Clinodactyly, Radial deviation of finger, Genu valgum, Kyphoscoliosis, Talipes eq...	OMIM:309580
Basel-Vanagaite-Smirin-Yosef Syndrome	2-3 toe syndactyly, Scoliosis, Kyphosis	OMIM:616449
Cerebrocostomandibular Syndrome	Tracheomalacia, Micrognathia, Death in infancy, Clinodactyly of the 5th finger, Kyphosis	ORPHA:1393
Neurofibromatosis Type 1	Osteopenia, Kyphosis, Slender long bone, Joint stiffness, Genu valgum, Abnormal hip bone morpholo...	ORPHA:636
16Q24.3 Microdeletion Syndrome	Micrognathia, Hip dysplasia, Scoliosis, Kyphosis, Proximal placement of thumb	ORPHA:261250
Cowden Syndrome	Palmoplantar keratoderma, Failure to thrive, Bone cyst, Brachydactyly, Scoliosis, Kyphosis	ORPHA:201
Autosomal Recessive Ataxia, Beauce Type	Pes cavus, Scoliosis, Kyphosis, Ankle clonus	ORPHA:88644
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Radial deviation of finger, Micrognathia, Kyphosis, Clinodactyly	OMIM:609944
Cystinosis, Nephropathic	Rickets, Failure to thrive, Failure to thrive in infancy, Hypophosphatemic rickets, Genu valgum, ...	OMIM:219800
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Scoliosis, Kyphosis	ORPHA:261190
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C...	OMIM:618223
Foxg1 Syndrome Due To 14Q12 Microdeletion	Scoliosis, Kyphosis	ORPHA:261144
Restrictive Dermopathy 1	Kyphoscoliosis, Osteolytic defects of the distal phalanges of the hand, Limb joint contracture, F...	OMIM:275210
Coffin-Lowry Syndrome	Bifid sternum, Decreased body weight, Lumbar kyphosis, Pes planus, Short metacarpal, Drumstick te...	OMIM:303600
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Bone cyst, Osteolysis, Abnormal cartilage morphology	ORPHA:2396
Infantile Nephropathic Cystinosis	Rickets, Failure to thrive	ORPHA:411629
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Kyphoscoliosis	OMIM:618820
Cockayne Syndrome A	Limitation of joint mobility, Kyphosis, Failure to thrive, Square pelvis bone, Hypoplastic iliac ...	OMIM:216400
Floating-Harbor Syndrome	Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysis, Kyphoscoliosis, H...	ORPHA:2044
Smith-Lemli-Opitz Syndrome	Hip dislocation, Aplasia/Hypoplasia of the radius, Rhizomelia, Abnormal form of the vertebral bod...	ORPHA:818
17Q11 Microdeletion Syndrome	Osteopenia, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Osteolysis, ...	ORPHA:97685
Primary Fanconi Renotubular Syndrome	Increased susceptibility to fractures, Weight loss, Hypophosphatemic rickets, Osteomalacia	ORPHA:3337
Cowden Syndrome 5	Palmoplantar hyperkeratosis, Micrognathia, Scoliosis, Kyphosis	OMIM:615108
Proteus Syndrome	Macrodactyly, Hip dislocation, Lower limb asymmetry, Abnormal form of the vertebral bodies, Crani...	ORPHA:744
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Genu valgum, Kyphoscoliosis, Hyperlordosis, Large hands, Scoliosis	ORPHA:363700
Triosephosphate Isomerase Deficiency	Death in adolescence, Death in infancy, Kyphosis, Failure to thrive	OMIM:615512
Postencephalitic Parkinsonism	Camptocormia, Kyphosis	ORPHA:97349
Rett Syndrome, Congenital Variant	Talipes equinovarus, Pes planus, Scoliosis, Kyphosis	OMIM:613454
Cowden Syndrome 6	Palmoplantar hyperkeratosis, Micrognathia, Scoliosis, Kyphosis	OMIM:615109
Williams Syndrome	Synostosis of joints, Death in early adulthood, Micrognathia, Genu valgum, Radioulnar synostosis,...	ORPHA:904
Hypomagnesemia 3, Renal	Rickets, Failure to thrive, Genu valgum, Short metacarpal, Bowing of the legs	OMIM:248250
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Lumbar hyperlordosis, Kyphoscoliosis, Arachnodactyly, Hemivertebrae	ORPHA:500150
Generalized Arterial Calcification Of Infancy	Calcification of the auricular cartilage, Osteomalacia, Failure to thrive in infancy, Abnormal hi...	ORPHA:51608
1P36 Deletion Syndrome	Lower limb asymmetry, Failure to thrive, Spinal canal stenosis, Camptodactyly of finger, Obesity,...	ORPHA:1606
Coffin-Siris Syndrome 1	Prominent fingertip pads, Sandal gap, Clinodactyly of the 5th finger, Short distal phalanx of the...	OMIM:135900
Atelis Syndrome 2	Clinodactyly, Micrognathia, Pes planus, Kyphosis, Sacral dimple	OMIM:620185
Ramon Syndrome	Juvenile rheumatoid arthritis, Scoliosis, Kyphosis, Decreased body weight	OMIM:266270
Noonan Syndrome 1	Radial deviation of finger, Clinodactyly, Kyphoscoliosis, Short neck, Brachydactyly	OMIM:163950
Aspartylglucosaminuria	Platyspondyly, Spondylolysis, Pathologic fracture, Spondylolisthesis, Joint hypermobility, Beakin...	OMIM:208400
Cowden Syndrome 1	Palmoplantar hyperkeratosis, Micrognathia, Scoliosis, Kyphosis	OMIM:158350
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Kyphosis, Short 5th toe, 2-4 toe cutaneous syndactyly, Abnormal foot morphology, Failure to thriv...	ORPHA:268261
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Acromegaly	Macrodactyly, Deep plantar creases, Broad foot, Cortical diaphyseal thickening of the upper limbs...	ORPHA:963
Pallister-Killian Syndrome	Rhizomelia, Small hand, Postaxial foot polydactyly, Camptodactyly of 2nd-5th fingers, Short toe, ...	OMIM:601803
Somatomammotropinoma	Macrodactyly, Deep plantar creases, Broad foot, Cortical diaphyseal thickening of the upper limbs...	ORPHA:314769
Pseudoxanthoma Elasticum, Forme Fruste	Scoliosis, Kyphosis	OMIM:177850
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Failure to thrive, Osteomyelitis, Obesity, Genu valgum, Tapered distal phalanges of finger, Back ...	OMIM:619475
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Wilson Disease	Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis, Pedal edema	OMIM:277900
Williams-Beuren Syndrome	Kyphoscoliosis, Radioulnar synostosis, Hallux valgus, Clinodactyly of the 5th finger, Flexion con...	OMIM:194050
Microphthalmia, Syndromic 1	Joint contracture of the hand, Clinodactyly, Prominent fingertip pads, Radial deviation of finger...	OMIM:309800
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Platyspondyly, Abnormality of the vertebral column, Failure to thr...	ORPHA:2273
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Cockayne Syndrome	Congenital contracture, Contractures of the large joints, Abnormal epiphysis morphology, Cachexia...	ORPHA:191
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight	OMIM:182210
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Weight loss, Arthritis, Osteomalacia	OMIM:619381
Viss Syndrome	Hip dislocation, Microretrognathia, Failure to thrive, Micrognathia, Butterfly vertebrae, Genu va...	OMIM:619472
Cockayne Syndrome Type 3	Flexion contracture, Scoliosis, Kyphosis	ORPHA:90324
Lymphedema-Distichiasis Syndrome	Micrognathia, Kyphosis	OMIM:153400
Sotos Syndrome	Abnormal vertebral morphology, Ankle flexion contracture, Hip contracture, Joint hypermobility, B...	ORPHA:821
Autosomal Recessive Spastic Paraplegia Type 35	Positional foot deformity, Kyphosis, Ankle clonus	ORPHA:171629
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, 3-4 toe syndactyly, Genu valgum, Lumbar kyphoscolio...	ORPHA:1449
Branchiooculofacial Syndrome	Short thumb, Fusion of middle ear ossicles, Elbow flexion contracture, Preaxial hand polydactyly,...	OMIM:113620
Pmm2-Cdg	Platyspondyly, Multiple joint contractures, Long fingers, Kyphoscoliosis	ORPHA:79318
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Scoliosis, Kyphosis	OMIM:619482
Alström Syndrome	Short toe, Short finger, Obesity, Thoracic scoliosis, Lumbar scoliosis, Pes planus, Truncal obesi...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Col12a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Col12a1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Targeted conditional collagen XII deletion alters tendon function.	Matrix biology plus (October 2022)	Col12a1^{tm2a(KOMP)Wtsi}	PMC9597098

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Col12a1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Col12a1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Col12a1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Col12a1^{tm2e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Col12a1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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