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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinal Muscular Atrophy, Ryukyuan Type
Kyphoscoliosis, Proximal amyotrophy, Spinal muscular atrophy OMIM:271200
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp... ORPHA:1802
Osteomesopyknosis
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... ORPHA:2777
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Kyphoscoliosis, Distal amyotrophy OMIM:619099
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Generalized osteosclerosis, Scleroti... ORPHA:2790
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Kyphoscoliosis, Ankle flexion contracture, Foot dorsiflexor weakness OMIM:616668
Nemaline Myopathy 4
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... OMIM:609285
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Scoliosis, Bowing of the long bones, T... ORPHA:53697
Nemaline Myopathy 7
Nemaline bodies, Kyphoscoliosis, Lumbar hyperlordosis, Weakness of facial musculature, Minicore m... OMIM:610687
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Wide distal femoral me... OMIM:619598
Weismann-Netter Syndrome
Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... ORPHA:2114
Metatropic Dysplasia
Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularization, Clinodact... ORPHA:2635
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... ORPHA:970
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Kyphoscoliosis, Lower limb amyotrophy, Knee flexion contracture, Upper limb amyotrophy, Proximal ... ORPHA:496689
Acromesomelic Dysplasia 2A
Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru... OMIM:200700
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Congenital Muscular Dystrophy Without Intellectual Disability
Facial diplegia, Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, EMG: myopathic abnormal... ORPHA:370980
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Roussy-Lévy Syndrome
Kyphoscoliosis, Intrinsic hand muscle atrophy, Scoliosis, Lower limb muscle weakness, Distal amyo... ORPHA:3115
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Flexion c... OMIM:601560
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing of the long bones OMIM:168400
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Congenital muscular dystrophy, Kyphoscoliosis, Increased endomysial connective tissue, Flexion co... OMIM:607855
Ck Syndrome
Slender build, Kyphosis, Micrognathia, Scoliosis, Hyperlordosis, Abnormal digit morphology, Joint... OMIM:300831
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Action tremor, Upper limb postural tremor, Distal amyotrophy OMIM:180800
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short neck, Platyspondyly, Upper limb undergrowth, Genu valgum, Sm... ORPHA:94068
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Kyphoscoliosis, Upper limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:605588
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... ORPHA:50811
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Short neck, Biconcave vertebral bodies, Arthralgia ... ORPHA:93284
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... OMIM:600175
Ataxia-Oculomotor Apraxia Type 4
Kyphoscoliosis, Progressive distal muscular atrophy, Muscular dystrophy, Distal lower limb muscle... ORPHA:459033
Acromesomelic Dysplasia, Maroteaux Type
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral... ORPHA:40
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Arthrogryposis multiplex congenita OMIM:212540
Winchester Syndrome
Broad metacarpals, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized os... OMIM:277950
Ullrich Congenital Muscular Dystrophy 2
Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter, Congenital m... OMIM:616470
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... OMIM:619795
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... OMIM:300718
Charcot-Marie-Tooth Disease, Type 4K
Kyphoscoliosis, Skeletal muscle atrophy, Dystonia OMIM:616684
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Increased anterior vertebral height, Co... OMIM:183849
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Increased endomysial connective tissue, ... OMIM:618484
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl... OMIM:132400
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Platyspondyly ORPHA:93304
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Pes ... OMIM:619638
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral... OMIM:617719
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Kyphoscoliosis, Skeletal muscle atrophy ORPHA:101081
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Kyphoscoliosis, Vertebral wedging, Skeletal muscle hypertrophy OMIM:255710
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Kyphoscoliosis, Flexion contracture OMIM:617977
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l... OMIM:602080
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Micrognathia, Short neck, Abnormal form of the... ORPHA:1486
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Nemaline bodies, Central core regions in muscle fibe... ORPHA:597
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... ORPHA:166277
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Myopathy, Generalized amyotrophy OMIM:618323
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Decreased body weight, Delayed ossification of carpal bones, Small for gestational age,... OMIM:618392
Diastrophic Dysplasia
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Short long bone, Smal... OMIM:222600
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Kyphoscoliosis, Distal amyotrophy OMIM:607831
Charcot-Marie-Tooth Disease Type 4D
Kyphoscoliosis, Lower limb amyotrophy, Upper limb amyotrophy, Postural tremor, Distal lower limb ... ORPHA:99950
Spondyloepiphyseal Dysplasia, Stanescu Type
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly OMIM:616583
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Premature osteoarthritis, Limb joint contr... ORPHA:93314
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormal cortical bone morphology, Abnormality of limb bone morphology, Increas... ORPHA:2204
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Atlantoaxial abnormality, Decreased muscle mass ORPHA:3433
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Maternal Uniparental Disomy Of Chromosome 9
Abnormal vertebral morphology, Kyphoscoliosis, Short neck, Hamstring contractures ORPHA:96183
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture OMIM:612079
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture OMIM:174810
Richieri Costa-Da Silva Syndrome
Beaking of vertebral bodies, Distal lower limb muscle weakness, Kyphoscoliosis, Skeletal muscle h... ORPHA:3101
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis, Tremor, Distal upper limb amyotrophy, Distal lower limb amyotrophy ORPHA:101075
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Calvaria... ORPHA:1310
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Flexion contracture, Short femur, Adducted thumb, Osteopenia, Flared ... OMIM:616897
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral n... ORPHA:85184
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:118220
Brachyolmia Type 1, Toledo Type
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Back pain, Short neck, ... OMIM:271630
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... ORPHA:1988
Myopathic Ehlers-Danlos Syndrome
Kyphosis, Kyphoscoliosis, Multiple joint contractures, Joint contracture of the hand, Flexion con... ORPHA:536516
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Kyphoscoliosis, Skeletal muscle atrophy, Myopathy ORPHA:300179
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... OMIM:108720
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Weakness of facial musculature... ORPHA:1145
Cranio-Osteoarthropathy
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... ORPHA:1525
Bruck Syndrome 1
Hip contracture, Kyphosis, Coxa vara, Talipes equinovarus, Platyspondyly, Scoliosis, Osteoporosis... OMIM:259450
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Overlapping toe, Clinodactyly of the 5th finger, Camptodactyly, Short thumb OMIM:618453
Bethlem Myopathy 2
Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scoliosis, Scapula... OMIM:616471
Thanatophoric Dysplasia Type 1
Kyphosis, Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia,... ORPHA:1860
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Micrognathia, Biconcave vertebral bodies, Thin bony cortex, ... OMIM:617952
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Hump-shaped mound of bone in central and posterior portions of vertebral endplat... ORPHA:99642
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Atelosteogenesis Type Ii
Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel... ORPHA:56304
Atelosteogenesis Type I
Talipes equinovarus, Abnormal ossification involving the femoral head and neck, Short femur, Micr... ORPHA:1190
Brown-Vialetto-Van Laere Syndrome 2
Kyphoscoliosis, Scoliosis, Limb muscle weakness, Facial palsy, Generalized amyotrophy OMIM:614707
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Kyphoscoliosis, Thoracolumbar kyphosis OMIM:236660
Gorham-Stout Disease
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... ORPHA:73
Developmental And Epileptic Encephalopathy 41
Kyphoscoliosis, Flexion contracture OMIM:617105
Hyperekplexia 4
Distal arthrogryposis, Kyphoscoliosis, Flexion contracture, Camptodactyly OMIM:618011
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Decreased skull ossification, Bowing of the long ... ORPHA:2097
Weismann-Netter Syndrome
Kyphosis, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bowing, Lateral femoral b... OMIM:112350
King-Denborough Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Muscle fiber atrophy, Weakness of facial musculature, Minic... OMIM:619542
Intellectual Developmental Disorder, X-Linked 19
Kyphoscoliosis, Scoliosis OMIM:300844
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Limb muscle weakness, Foot dorsiflexor weakness, Distal amyotrophy OMIM:118200
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ... OMIM:156500
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Short neck, Platyspondyly, Monkey wrenc... OMIM:251450
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin... ORPHA:1159
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Thin... OMIM:176920
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Platyspondyly, Broad femoral neck... OMIM:609324
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Foot dorsiflexor weakness, Distal amyotrophy OMIM:604563
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the... OMIM:609813
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Progressive Pseudorheumatoid Dysplasia
Joint stiffness, Kyphoscoliosis, Coxa vara, Joint contracture of the hand, Enlarged metacarpophal... OMIM:208230
Dysspondyloenchondromatosis
Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo... ORPHA:85198
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Talipes equinovarus, Flat capital femoral epiphysis, Scoliosis, Brachydacty... OMIM:226900
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Intrinsic hand muscle atrophy, Scoliosis, Foot dorsiflexor weakness, Tremor, Cent... OMIM:619574
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Myopathy, Scapulohumeroperoneal
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... OMIM:616852
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Sclerosis of skull base, Kyphosis, Hyperextensibility of the finger joints, Plat... OMIM:313420
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... OMIM:277300
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... OMIM:114000
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis, Tremor, Skeletal muscle atrophy ORPHA:101078
Leukodystrophy, Hypomyelinating, 3
Kyphoscoliosis, Progressive flexion contractures, Arthrogryposis multiplex congenita OMIM:260600
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Failure to thrive, Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly... ORPHA:157965
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hall-Riggs Mental Retardation Syndrome
Irregular vertebral endplates, Kyphosis, Metaphyseal dysplasia, Failure to thrive, Platyspondyly,... OMIM:234250
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space... ORPHA:166011
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Kyphoscoliosis, Platyspondyly, Lumbar scoliosis OMIM:612847
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Skeletal muscle atrophy... OMIM:230650
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Ollier Disease
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Abnormal m... ORPHA:296
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Femoral bowing, Scoliosis, Increased susceptibility to fractures OMIM:615066
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Scoliosis, Osteoporosis OMIM:618234
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Kyphosis, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint laxity, Increased su... OMIM:130060
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Flexion contracture, Lower limb muscle weakness, Camptodactyly, Distal amyotrophy OMIM:275900
Leukodystrophy, Hypomyelinating, 17
Kyphoscoliosis, Flexion contracture OMIM:618006
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Broad femoral neck, Genu va... OMIM:609325
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Kyphosis, Decreased calvarial ossification, Platyspondyly, Scoliosis, Short ... OMIM:259440
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Spondylolisthesis, Rimmed vacuoles, Ragged-red muscle fibers, M... ORPHA:270
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Facial Abnormalities, Kyphoscoliosis, And Mental Retardation
Kyphoscoliosis, Macroglossia OMIM:227250
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Pear-shap... ORPHA:93356
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin bony cortex, C1-C2 subluxation, Thin metacarpal cortices, Osteolysis involving t... OMIM:259600
Urban-Rogers-Meyer Syndrome
Recurrent fractures, Kyphosis, Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of fin... ORPHA:3409
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Kyphosis, Beaking of vertebral bodies, Metaphyseal irregu... OMIM:607326
Mental Retardation, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Abnormal hip bone morphology, Osteomalacia, Scoliosis, Abnormal f... ORPHA:93160
Myopathy, Congenital, Bailey-Bloch
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture OMIM:255995
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Talipes equinovarus, Platyspondyly, Scoliosis, Os... ORPHA:2771
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Metaphyseal irregularity, Lumbar hyperlordosis, Coxa vara, Narro... OMIM:602557
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sand... OMIM:256050
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Wide anterior fontanel, Kyphosis, Tibial bowing, Micrognathia, Decreased cal... OMIM:259420
Pelviscapular Dysplasia
Mesomelic leg shortening, Short femur, Hypoplastic ilia, Congenital hip dislocation, Short neck, ... ORPHA:93333
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Platyspondyly, Scoliosis OMIM:614856
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Beaking of vertebral bodies, Hypoplastic vertebral bodies, Failure to thrive, Pl... OMIM:230600
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Short neck, Camptodactyly, Shoulder flexion contracture, Elbow flexion contractur... OMIM:277720
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Diastrophic Dysplasia
Joint stiffness, Kyphosis, Increased bone mineral density, Micrognathia, Camptodactyly of finger,... ORPHA:628
You-Hoover-Fong Syndrome
Kyphoscoliosis OMIM:616954
Orofaciodigital Syndrome Xi
Kyphoscoliosis, Hypoplasia of the odontoid process OMIM:612913
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... OMIM:608940
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Recurrent fractures, Cortical sclerosis, Osteomyelitis, ... ORPHA:210110
Osteogenesis Imperfecta, Type Viii
Recurrent fractures, Wide anterior fontanel, Type 1 collagen overmodification, Kyphosis, Tibial b... OMIM:610915
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Pes cavus, Scoliosis OMIM:617087
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Beaking of vertebral bodies, Kyphoscoliosis, Dislocated radial head, Talipes equinovarus, Failure... ORPHA:93359
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Scoliosis, Foot dorsiflexor weakness, Distal amyotrophy, Distal lower limb muscle... OMIM:145900
Hypophosphatemic Rickets, X-Linked Dominant
Spinal canal stenosis, Metaphyseal irregularity, Hypophosphatemic rickets, Tibial bowing, Bowing ... OMIM:307800
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Kyphosis, Talipes equinovarus, Flexion contracture, Micrognathia, Congenital hip dislocation, Sco... OMIM:618291
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Delayed ossificati... OMIM:184252
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short metacarpal, Short femur, Femoral bowing,... OMIM:211350
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Fetal Akinesia Deformation Sequence 4
Kyphosis, Flexion contracture, Micrognathia, Short neck, Camptodactyly, Arthrogryposis multiplex ... OMIM:618393
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radiu... OMIM:607143
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Kyphosis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, ... ORPHA:75840
Episodic Ataxia Type 1
Calf muscle hypertrophy, Kyphoscoliosis, Choreoathetosis, Scoliosis ORPHA:37612
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Spinal canal stenosis, Ti... ORPHA:289176
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Micrognathia, Short neck, Abnor... ORPHA:3098
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Flexion contracture, Resting tremor, Short neck, Scoliosis, Wrist flexion contrac... OMIM:300055
Joubert Syndrome 18
Kyphoscoliosis, Camptodactyly OMIM:614815
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Scoliosis, Abnormal form of the ve... ORPHA:2769
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density, Scoliosis, Slender long bone, Hyperlordosis ORPHA:262
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Mitochondrial Complex I Deficiency, Nuclear Type 8
Kyphoscoliosis, Dystonia OMIM:618230
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Arthralgia of the hip, Abnormal hand morphology, Upper limb undergrowth, Genu v... ORPHA:93307
Calvarial Doughnut Lesions With Bone Fragility
Recurrent fractures, Osteopenia, Femoral bowing, Platyspondyly, Scoliosis, Osteoporosis OMIM:126550
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Abnormality of the vertebral column, Generalized osteosclerosis, Calvarial osteosc... OMIM:607634
Arthrogryposis, Distal, Type 4
Kyphosis, Talipes equinovarus, 2-5 finger cutaneous syndactyly, Osteopenia, Camptodactyly of 2nd-... OMIM:609128
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh... OMIM:223800
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Choreoathetosis, Dystonia, Flexion contracture OMIM:617664
Rhizomelic Chondrodysplasia Punctata, Type 1
Kyphoscoliosis, Flexion contracture, Severe failure to thrive, Micrognathia, Flared metaphysis, R... OMIM:215100
Charcot-Marie-Tooth Disease, Type 4A
Kyphoscoliosis, Distal amyotrophy OMIM:214400
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Foot oligodactyly, Amelia, Short femur OMIM:601357
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Subperiosteal bone resorption, Tibial bo... ORPHA:289157
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumb... OMIM:313400
Primary Dystonia, Dyt4 Type
Torticollis, Kyphoscoliosis, Blepharospasm, Laryngeal dystonia, Upper limb postural tremor, Gener... ORPHA:98805
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Spastic Paraplegia 18, Autosomal Recessive
Kyphosis, Pes cavus, Scoliosis OMIM:611225
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Flexion contracture, Short neck, Cervic... OMIM:617396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, C... OMIM:618138
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation, Small for gestational age ORPHA:85288
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Fibrous Dysplasia Of Bone
Abnormality of femur morphology, Abnormality of the humerus, Thin bony cortex, Abnormal bone stru... ORPHA:249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... OMIM:606612
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... OMIM:184100
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi... ORPHA:93316
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation OMIM:300434
Camptodactyly Syndrome, Guadalajara, Type Ii
Talipes equinovarus, Osteopenia, Camptodactyly of finger, Short neck, Brachydactyly, Micrognathia... OMIM:211920
Ruvalcaba Syndrome
Kyphosis, Small hand, Scoliosis, Micromelia, Limited elbow extension, Short phalanx of finger, Sh... OMIM:180870
Congenital Arthrogryposis With Anterior Horn Cell Disease
Kyphosis, Talipes equinovarus, Areflexia of lower limbs, Micrognathia, Hip dysplasia, Short neck,... OMIM:611890
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Femoral bowing, Metaphyseal widening, Micrognathia, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Short toe, Widely spaced toes, Shortening of all distal phalanges of the fingers, Cervi... OMIM:301900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Kyphosis, Talipes equinovarus, Pes cavus, Hyporeflexia of lower limbs, Scoliosis... OMIM:615290
Kniest Dysplasia
Hip contracture, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Tracheomalacia, Splay... OMIM:156550
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Kyphoscoliosis, Lumbar hyperlordosis, Flexion contracture of digit, Lumbar kyphosis in infancy, H... ORPHA:3041
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Skeletal mu... OMIM:255800
Bruck Syndrome 2
Talipes equinovarus, Flexion contracture, Osteopenia, Femoral bowing, Platyspondyly, Elbow flexio... OMIM:609220
Scapuloperoneal Spinal Muscular Atrophy
Torticollis, Kyphosis, Amyoplasia, Scapular muscle atrophy, Peroneal muscle weakness, Progressive... OMIM:181405
Achondroplasia
Rhizomelia, Short long bone, Spinal canal stenosis, Narrow greater sciatic notch, Hip joint hyper... ORPHA:15
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Scoliosis, Congenital foot contractures, Distal amyotrophy ORPHA:3454
Stüve-Wiedemann Syndrome
Recurrent fractures, Flexion contracture of finger, Talipes equinovarus, Flexion contracture, Ost... ORPHA:3206
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Short neck, Platyspondyly, Micromelia, 11 pairs of ribs, Long foot, Absent knee e... OMIM:210710
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Joint stiffness, Tibial bowing, Flexion contracture, Absent ossification of capital femoral epiph... OMIM:245160
Heart Defects-Limb Shortening Syndrome
Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodies, Death in i... ORPHA:1354
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph... OMIM:612350
Shashi-Pena Syndrome
Kyphosis, Scoliosis, Osteoporosis OMIM:617190
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Kyphosis, Reduced bone mineral density, Biconcave flattened vertebrae, Femor... OMIM:166220
Zimmermann-Laband Syndrome 3
Short distal phalanx of finger, Kyphosis, Long hallux, Flexion contracture, Absent distal phalanx... OMIM:618658
Parkinson-Dementia Syndrome
Tremor, Kyphoscoliosis OMIM:260540
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis, Tremor, Skeletal muscle hypertrophy ORPHA:99014
Pachydermoperiostosis
Osteomyelitis, Small hand, Scoliosis, Osteoporosis, Genu varum, Arthritis, Osteolysis, Abnormal e... ORPHA:2796
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Lumbar hyperlordosis, Camptodactyly of toe, Camptodactyly of finger, Short neck, ... OMIM:114300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Kyphoscoliosis, Massively thickened long bone cortices, Brachydactyly, Micromelia, Limb undergrowth OMIM:122900
Foxg1 Syndrome
Kyphoscoliosis, Choreoathetosis, Scoliosis, Dystonia ORPHA:561854
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Craniosynostosis, Osteopenia, Femoral bowing, Platyspondyly, Short neck, Short f... OMIM:616723
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Osteogenesis Imperfecta, Type Xi
Coxa vara, Kyphoscoliosis, Osteopenia, Scoliosis, Biconcave vertebral bodies, Protrusio acetabuli... OMIM:610968
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis ORPHA:1548
Frank-Ter Haar Syndrome
Kyphosis, Joint stiffness, Beaking of vertebral bodies, Clinodactyly of the 5th finger, Genu recu... ORPHA:137834
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Short neck, Scoliosis ORPHA:2744
Disorder Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Reduced bone mineral density, Short neck, Spina bifida occulta, Genu valgum ORPHA:2983
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Micrognathia, Camptodactyly of finger, Scoliosis, Osteoporosis, Abnormality of the cerv... ORPHA:48431
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Adducted thumb, Micrognathia, Camp... OMIM:610758
Mucopolysaccharidosis, Type Ivb
Kyphosis, Pointed proximal second through fifth metacarpals, Constricted iliac wing, Metaphyseal ... OMIM:253010
Allan-Herndon-Dudley Syndrome
Kyphoscoliosis, Flexion contracture, Limb hypertonia, Choreoathetosis, Skeletal muscle atrophy, D... ORPHA:59
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Idiopathic Juvenile Osteoporosis
Recurrent fractures, Kyphosis, Osteoporosis, Vertebral compression fracture ORPHA:85193
Mucopolysaccharidosis, Type Iva
Kyphosis, Pointed proximal second through fifth metacarpals, Coxa valga, Constricted iliac wing, ... OMIM:253000
Kniest Dysplasia
Flexion contracture of finger, Short neck, Platyspondyly, Abnormal bone structure, Dumbbell-shape... ORPHA:485
Ck Syndrome
Kyphoscoliosis, Lumbar hyperlordosis ORPHA:251383
Mucopolysaccharidosis Type 4
Spinal canal stenosis, Kyphosis, Reduced bone mineral density, Platyspondyly, Short neck, Scolios... ORPHA:582
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Mucolipidosis Iii Gamma
Kyphosis, Joint stiffness, Flat capital femoral epiphysis, Flared iliac wing, Short neck, Scolios... OMIM:252605
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Scoliosis, Tapered finger, Large hands, Obesity ORPHA:276630
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... ORPHA:93352
Clark-Baraitser syndrome
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm OMIM:300602
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Slender long bone, Spina bifida occulta, Hypoplastic pelvis, Sacrococcygeal pilonidal abnormality... ORPHA:2840
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Neonatal death, Flexion contracture OMIM:618237
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Hip dislocation, Obesity OMIM:616756
Geroderma Osteodysplasticum
Irregular vertebral endplates, Recurrent fractures, Beaking of vertebral bodies, Kyphoscoliosis, ... OMIM:231070
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Wide anterior fontanel, Metaphyseal cupping, Femoral bowing, Trident... OMIM:618853
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Limb muscle weakness OMIM:109500
X-Linked Hypophosphatemia
Bowing of the legs, Trapezoidal distal femoral condyles, Flared iliac wing, Craniosynostosis, Red... ORPHA:89936
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Flexion contracture, Scoliosis, Abnormal form of the vertebral bodies, Interverte... ORPHA:263463
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis OMIM:122860
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Coxa vara, Coxa valga, Osteopenia, Micrognathia, Osteomalacia, Osteoporosis, Sco... ORPHA:1901
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Coxa vara, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... OMIM:183900
Hypophosphatemic Bone Disease
Bowing of the legs, Osteomalacia, Rickets OMIM:146350
Widow'S Peak Syndrome
Kyphosis, Recurrent patellar dislocation, High iliac wing, Arthralgia of the hip, Hip osteoarthri... OMIM:314570
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Alpha-Mannosidosis
Kyphosis, Short neck, Scoliosis, Synostosis of joints, Arthritis, Hypoplastic inferior ilia, Bowi... ORPHA:61
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Kyphoscoliosis, Epiphyseal dysplasia, T... OMIM:615349
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Atkin-Flaitz Syndrome
Kyphosis, Genu recurvatum, Scoliosis, Tapered finger, Genu valgum, Joint laxity, Obesity, Short palm OMIM:300431
Lenz-Majewski Hyperostotic Dwarfism
Short palm, Kyphosis, Limitation of joint mobility, Abnormality of finger, Increased bone mineral... ORPHA:2658
Microcephalic Primordial Dwarfism, Montreal Type
Vertebral segmentation defect, Kyphosis, Reduced bone mineral density, Micrognathia, Scoliosis ORPHA:2617
Osteogenesis Imperfecta
Abnormality of femur morphology, Osteopenia, Femoral bowing, Biconcave vertebral bodies, Micromel... ORPHA:666
Dystonia, Juvenile-Onset
Leg dystonia, Kyphoscoliosis, Oculogyric crisis, Generalized dystonia OMIM:607371
Congenital Disorder Of Glycosylation, Type Iik
Kyphoscoliosis OMIM:614727
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Failure to thrive, Hip dysplasia OMIM:620007
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Kyphoscoliosis, Acute rhabdomyolysis OMIM:604168
Frank-Ter Haar Syndrome
Kyphosis, Wide anterior fontanel, Kyphoscoliosis, Talipes equinovarus, Short long bone, Bilateral... OMIM:249420
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98855
Carpenter Syndrome
Kyphoscoliosis, Talipes equinovarus, Craniosynostosis, Brachydactyly, Polydactyly, Syndactyly, Po... ORPHA:65759
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Increased vertebral height, Kyphoscoliosis, Hyperlordosis, Kinetic tremor, Abnormal vertebral mor... OMIM:616817
Czech Dysplasia
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Short metaca... OMIM:609162
Coffin-Siris Syndrome 6
Kyphoscoliosis, Diaphragmatic eventration OMIM:617808
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Kyphoscoliosis, Resting tremor ORPHA:3077
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Kyphosis, Failure to thrive, Increased bone mineral density, Osteopenia, Sho... OMIM:239000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Masa Syndrome
Kyphosis, Talipes equinovarus, Adducted thumb, Pes cavus, Hyperlordosis OMIM:303350
Cerebrooculofacioskeletal Syndrome 1
Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Camptodactyly, Elbow flexion ... OMIM:214150
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture ORPHA:75496
Rahman Syndrome
Kyphoscoliosis, Camptodactyly OMIM:617537
Mcdonough Syndrome
Diastasis recti, Kyphoscoliosis OMIM:248950
Anauxetic Dysplasia 1
Hip contracture, Short toe, Lumbar hyperlordosis, Delayed ossification of carpal bones, Atlantoax... OMIM:607095
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Kyphosis, Flexion contracture, Short neck, Scoliosis, Clinodactyly, Arthrogryposis multiplex cong... ORPHA:178148
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Recurrent fractures, Kyphosis, Small abnormally formed scapul... ORPHA:140
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Intention tremor, Lower limb amyotrophy, Dystonia, Paroxysmal dystonia ORPHA:466722
Autosomal Recessive Spastic Paraplegia Type 9B
Kyphoscoliosis, Skeletal muscle atrophy, Postural tremor ORPHA:447760
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Osteopenia, Talipes equino... ORPHA:536471
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Joint hyperflexibility ORPHA:319199
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynostosis, Osteopen... ORPHA:536467
Scholte Syndrome
Kyphoscoliosis OMIM:300977
Charcot-Marie-Tooth Disease Type 4B2
Kyphoscoliosis, Hand muscle weakness, Proximal muscle weakness in lower limbs, Weakness of facial... ORPHA:99956
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Kyphoscoliosis, Long hallux, Talipes equinovarus, Hyperextensibility of the ... OMIM:309583
Faciocardiomelic Syndrome
Osteopenia, Micrognathia, Polydactyly, Slender long bone, Thin bony cortex, Large for gestational... OMIM:612731
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis OMIM:300886
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Failure to thrive, Osteopenia, Camptodactyly of finger, Sho... ORPHA:2176
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Small hand, Scoliosis, Brachydactyly, Tapered finger, Camptodactyl... OMIM:615547
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital hip dislocation, Ru... OMIM:304120
Oculodentodigital Dysplasia
Clinodactyly of the 5th finger, Finger syndactyly, Micrognathia, Camptodactyly of finger, Brachyd... ORPHA:2710
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Abnormal foot morphology, Increased susce... OMIM:146300
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Kyphosis, Joint laxity OMIM:248760
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Kyphosis, Multiple joint contractures, Oromandibular dystonia, Blepharospasm, Scolio... OMIM:128100
Acromesomelic Dysplasia 1
Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o... OMIM:602875
Three M Syndrome 3
Increased vertebral height, Clinodactyly of the 5th finger, Decreased body weight, Small for gest... OMIM:614205
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98863
Multiple Osteochondromas
Abnormality of femur morphology, Limitation of knee mobility, Abnormal bone structure, Abnormal h... ORPHA:321
Flynn-Aird Syndrome
Kyphosis, Joint stiffness, Bone cyst, Cachexia, Scoliosis ORPHA:2047
Warburg Micro Syndrome 1
Kyphoscoliosis OMIM:600118
Dysostosis, Stanescu Type
Kyphosis, Increased bone mineral density, Massively thickened long bone cortices, Short neck, Sco... ORPHA:1798
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility ORPHA:1875
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Adducted thumb, Arachnodactyly, Scoliosis, Shoulder dislocation, Joint hyperflexibility ORPHA:2181
Contractural Arachnodactyly, Congenital
Hip contracture, Kyphoscoliosis, Short neck, Scoliosis, Wrist flexion contracture, Congenital fin... OMIM:121050
Crisponi Syndrome
Kyphosis, Flexion contracture, Micrognathia, Camptodactyly of finger, Scoliosis, Death in infancy... ORPHA:1545
Congenital Contractural Arachnodactyly
Flexion contracture, Camptodactyly of finger, Scoliosis, Arthrogryposis multiplex congenita, Cong... ORPHA:115
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Joint stiffness, Broad metacarpals, Lumbar hyperlordosis, Broad phalanges ... OMIM:277600
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Exaggerated startle response, Flexion contracture, Scoliosis, Distal amyotrophy OMIM:609541
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Hip d... ORPHA:1858
Marshall-Smith Syndrome
Failure to thrive, Reduced bone mineral density, Craniosynostosis, Scoliosis, Slender long bone, ... ORPHA:561
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Small for gestational age, Micrognathia, Scoliosis, Join... ORPHA:352490
Holt-Oram Syndrome
Kyphosis, Joint stiffness, Absent thumb, Down-sloping shoulders, Scoliosis, Abnormality of the hu... ORPHA:392
Fountain Syndrome
Short distal phalanx of finger, Kyphosis, Metaphyseal dysplasia, Scoliosis, Abnormal form of the ... ORPHA:3219
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, Pelvic girdle muscle weakness... OMIM:607155
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Bac... ORPHA:98853
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Clinodactyly of the 5th finger, Small for gestational age, Micrognathia, Scoliosis, Art... OMIM:615834
Crisponi/Cold-Induced Sweating Syndrome 1
Kyphoscoliosis, Opisthotonus, Short neck, Camptodactyly, Elbow flexion contracture, Facial palsy OMIM:272430
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Camptodactyly of toe, Pes cavus, Congenital hip dislocat... OMIM:300280
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia, Camptodactyly of finger, Micrognathia, Slender long bone, Osteolysis, Carpal osteolysis... ORPHA:2774
Congenital Myasthenic Syndrome
Kyphoscoliosis, Muscle fiber atrophy, Spinal rigidity, EMG: myopathic abnormalities, Limb-girdle ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Muscle fiber atrophy, Spinal rigidity, EMG: myopathic abnormalities, Limb-girdle ... ORPHA:98914
Lethal Kniest-Like Dysplasia
Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal cartilage mat... ORPHA:2347
Patterson Pseudoleprechaunism Syndrome
Kyphoscoliosis, Cervical platyspondyly, Ovoid thoracolumbar vertebrae, Irregular sclerotic endpla... OMIM:169170
Arthrogryposis, Distal, Type 2A
Hip contracture, Kyphoscoliosis, Flexion contracture of finger, Joint contracture of the hand, Sh... OMIM:193700
Myofibrillar Myopathy 10
Kyphosis, Flexion contracture of finger, Sandal gap, Elbow flexion contracture, Knee flexion cont... OMIM:619040
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cervical spondylosis, Back pain, Kyphoscoliosis ORPHA:199354
Marinesco-Sjogren Syndrome
Kyphosis, Failure to thrive, Flexion contracture, Scoliosis, Pes planus, Short metatarsal, Coxa v... OMIM:248800
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Kyphoscoliosis OMIM:600991
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Genu valgum, Slender build, Cortical... ORPHA:1328
Pycnodysostosis
Rhizomelia, Spondylolisthesis, Increased bone mineral density, Micrognathia, Scoliosis, Hyperlord... ORPHA:763
Otopalatodigital Syndrome, Type I
Short 3rd metacarpal, Broad hallux, Sandal gap, Broad distal phalanx of the thumb, Absent frontal... OMIM:311300
Brachyolmia Type 3
Kyphosis, Short neck, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Proximal femora... OMIM:113500
Ullrich Congenital Muscular Dystrophy 1
Slender build, Kyphosis, Failure to thrive, Talipes equinovarus, Spinal rigidity, Increased laxit... OMIM:254090
Three M Syndrome 1
Increased vertebral height, Clinodactyly of the 5th finger, Small for gestational age, Short ribs... OMIM:273750
Sialidosis Type 2
Kyphosis, Pedal edema, Osteoporosis, Flexion contracture ORPHA:87876
Cerebrooculofacioskeletal Syndrome 2
Kyphoscoliosis, Camptodactyly of finger OMIM:610756
Stuve-Wiedemann Syndrome 1
Femoral bowing, Short neck, Ulnar deviation of finger, Contracture of the proximal interphalangea... OMIM:601559
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, Platyspondyly, 11 pairs of ribs, Ge... OMIM:271640
Cdkl5-Deficiency Disorder
Kyphosis, Hallux valgus, Scoliosis, Broad proximal phalanges of the hand ORPHA:505652
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Abnormal bone ossification, Triangular shaped distal phalanges of... ORPHA:73230
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhi... OMIM:143095
Thanatophoric Dysplasia
Kyphosis, Joint stiffness, Hip dysplasia, Platyspondyly, Micromelia, Brachydactyly, Abnormal iliu... ORPHA:2655
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Areflexia of lower limbs, Pes cavus, Scoliosis, Split hand, Obesity OMIM:618124
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... ORPHA:1652
Peroxisome Biogenesis Disorder 12A (Zellweger)
Decreased body weight, Wide anterior fontanel, Abnormal cortical bone morphology OMIM:614886
Joint Laxity, Short Stature, And Myopia
Kyphoscoliosis, Short neck OMIM:617662
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Ankle clonus, Scoliosis, Short foot OMIM:617435
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Short neck, Scoliosis, Cong... ORPHA:2616
Mucopolysaccharidosis Type 6
Joint stiffness, Kyphosis, Epiphyseal dysplasia, Failure to thrive, Short neck, Genu valgum, Ovoi... ORPHA:583
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Kyphosis, Platyspondyly, Metaphyseal widening OMIM:618476
Stickler Syndrome, Type I
Joint stiffness, Kyphosis, Beaking of vertebral bodies, Spondylolisthesis, Arachnodactyly, Microg... OMIM:108300
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Reduced bone mineral density, Slender long bone, Spina bifida occulta, Joint hyp... ORPHA:1185
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Blepharospasm, Tremor by anatomical site, Tremor, Focal dystonia ORPHA:99750
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Bowing of the legs, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia, Patholo... ORPHA:157215
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Postaxial polydactyly, Micrognathia, Broad distal phalanx of finger, Scoliosis, Hyperlo... OMIM:615761
Warburg Micro Syndrome 3
Kyphoscoliosis, Decreased muscle mass, Flexion contracture OMIM:614222
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Pontocerebellar Hypoplasia, Type 10
Kyphoscoliosis OMIM:615803
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Joint stiffness, Broad metacarpals, Lumbar hyperlordosis, Broad phalanges ... OMIM:608328
Premature Aging Syndrome, Penttinen Type
Osteopenia, Micrognathia, Brachydactyly, Scoliosis, Slender long bone, Osteolytic defects of the ... OMIM:601812
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Cole-Carpenter Syndrome
Kyphosis, Recurrent fractures, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Cr... ORPHA:2050
Hyperparathyroidism, Transient Neonatal
Osteopenia, Femoral bowing, Short ribs OMIM:618188
Ane Syndrome
Multiple joint contractures, Kyphoscoliosis, Generalized amyotrophy ORPHA:157954
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Abdominal obesity, Kyphosis, Small hand, Pes cavus, Brachydactyly, Pes planus, Sandal gap, Joint ... OMIM:300354
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Metaphyseal irregularity, Kyphoscoliosis, Lumbar hyperlordosis, Delayed os... OMIM:271510
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Abnormality of the lower limb, Rickets OMIM:193100
Hypomelanosis Of Ito
Kyphosis, Scoliosis, Syndactyly, Radial deviation of finger, Clinodactyly, Hand polydactyly OMIM:300337
Ruvalcaba Syndrome
Kyphosis, Clinodactyly of the 5th finger, Small hand, Cone-shaped epiphysis, Synostosis of carpal... ORPHA:3121
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Dislocation of the femoral head, Kyphosis, Hyperextensibility of the finger joints, Congenital hi... OMIM:619797
Occipital Horn Syndrome
Osteopenia, Down-sloping shoulders, Platyspondyly, Abnormality of the pubic bone, Humerus varus, ... ORPHA:198
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Metaphyseal dysplasia, Increased intervertebral space, Platyspondyly, Br... OMIM:619727
Monosomy 18P
Kyphoscoliosis, Short neck, Generalized dystonia ORPHA:1598
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum, Joint hypermobility OMIM:617798
Bethlem Myopathy
Multiple joint contractures, Quadriceps muscle weakness, Achilles tendon contracture, Flexion con... ORPHA:610
Cole-Carpenter Syndrome 2
Kyphosis, Microretrognathia, Coronal craniosynostosis, Osteopenia, Platyspondyly, Narrow iliac wi... OMIM:616294
15Q24 Microdeletion Syndrome
Kyphosis, Failure to thrive, Abnormality of toe, Small for gestational age, Small hand, Scoliosis... ORPHA:94065
Fanconi Renotubular Syndrome 3
Bowing of the legs, Rickets OMIM:615605
Autosomal Dominant Hypophosphatemic Rickets
Bowing of the legs, Osteomalacia, Rickets ORPHA:89937
Cleidocranial Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Absent frontal sinuses, Spondylolisthesis, In... OMIM:119600
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Death in childhood, Death in adolescence, Osteoporosis, Rickets OMIM:560000
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Kyphoscoliosis, Flexion contracture of finger, Hypoplasia of the musculature, Fl... ORPHA:2020
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat... OMIM:249700
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Pelvis-Shoulder Dysplasia
Dislocated radial head, Lumbar hyperlordosis, Talipes equinovarus, Aplasia/Hypoplasia of the clav... ORPHA:2839
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Osteogenesis Imperfecta, Type I
Recurrent fractures, Biconcave flattened vertebrae, Osteopenia, Femoral bowing, Increased suscept... OMIM:166200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Brachydactyly, Hyperlordosis, Broad foot, Obesity ORPHA:3085
Spinal Arteriovenous Metameric Syndrome
Kyphoscoliosis, Abnormality of the vertebral column ORPHA:53721
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Short neck, Broad... OMIM:300990
Thanatophoric Dysplasia Type 2
Kyphosis, Limitation of joint mobility, Platyspondyly, Micromelia, Brachydactyly, Abnormal metaph... ORPHA:93274
X-Linked Dominant Chondrodysplasia Punctata
Kyphoscoliosis, Flexion contracture, Abnormally ossified vertebrae, Neuropathic spinal arthropath... ORPHA:35173
Myopathy, Centronuclear, 2
Kyphosis, Talipes equinovarus, Flexion contracture, Pes cavus, Scoliosis, Hyperlordosis OMIM:255200
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Micrognathia, Broad hall... ORPHA:3082
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Hemivertebrae, Scoliosis,... ORPHA:2916
Emanuel Syndrome
Multiple joint contractures, Kyphoscoliosis, Congenital diaphragmatic hernia, Scoliosis, Sacral d... ORPHA:96170
Baralle-Macken Syndrome
Kyphosis, Pes planus, Obesity, Tapered finger OMIM:619255
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Osteopenia, Micrognathia, Scoliosis, Genu varum, Tapered finger, Metatarsus valgus, Joi... ORPHA:2479
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Talipes equinovarus, Hyperextensibility of the finger joints, Scoliosis, Hyperlordosis,... OMIM:617821
Camptodactyly Syndrome, Guadalajara Type 3
Distal shortening of limbs, Small hand, Osteopenia, Short neck, Broad femoral neck, Spina bifida ... ORPHA:488434
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Clinodactyly of the 5th finger, Small hand, Cachexia, Camptodactyly of finger, Short ne... ORPHA:85293
Thanatophoric Dysplasia, Type I
Metaphyseal irregularity, Small abnormally formed scapulae, Short ribs, Femoral bowing, Hypoplast... OMIM:187600
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Dystonia, Choreoathetosis, Lumbar kyphoscoliosis OMIM:619422
Sponastrime Dysplasia
Platyspondyly, Biconcave vertebral bodies, Genu valgum, Rhizomelia, Hip subluxation, Small epiphy... ORPHA:93357
Acrootoocular Syndrome
Small thenar eminence, Kyphoscoliosis, Small hypothenar eminence, Abnormality of facial musculature ORPHA:2980
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplasia of proximal radius, Metaphyseal dyspl... OMIM:184253
Mucopolysaccharidosis, Type Vii
Joint stiffness, Kyphosis, Proximal tapering of metacarpals, Talipes equinovarus, Flexion contrac... OMIM:253220
Typical Nemaline Myopathy
Kyphosis, Spinal rigidity, Flexion contracture, Micrognathia, Short neck, Scoliosis, Genu varum, ... ORPHA:171436
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Short neck, Scoliosis ORPHA:391408
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis, Truncal obesity ORPHA:2429
Arthrogryposis And Ectodermal Dysplasia
Kyphoscoliosis, Joint contracture of the hand, Camptodactyly, Arthrogryposis multiplex congenita,... OMIM:601701
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Macroglossia, Camptodactyly ORPHA:397709
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Scoliosis ORPHA:391307
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Flexion contracture, Micrognathia, Scoliosis, Osteoporosis OMIM:615381
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Kyphoscoliosis, Contractures of the large joints ORPHA:324410
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Micrognathia, Short neck, Synostosis of carpal bones, Scoliosis, Obesity ORPHA:3191
Musculocontractural Ehlers-Danlos Syndrome
Kyphoscoliosis, Decreased muscle mass, Atlantoaxial dislocation, Scoliosis, Abnormality of the ce... ORPHA:2953
Cono-Spondylar Dysplasia
Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Failure to th... ORPHA:420794
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Arachnodactyly, Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger ORPHA:1883
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowin... OMIM:114290
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Craniosynostosis, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna, Talipes equinovar... OMIM:609945
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Flexion contracture OMIM:608149
Aspartylglucosaminuria
Joint stiffness, Beaking of vertebral bodies, Abnormal morphology of ulna, Anterior beaking of lu... ORPHA:93
Becker Nevus Syndrome
Kyphosis, Scoliosis, Micromelia, Abnormality of tibia morphology, Spina bifida occulta, Lower lim... ORPHA:64755
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Abnormal hip bone morphology, Micrognathia, Short neck, Hyperlordosis, Fused cervical v... ORPHA:2522
Poland Syndrome
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Vertebral segmentat... ORPHA:2911
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Kyphosis, Talipes equinovarus, Microretrognathia, Flexion contracture, Short nec... OMIM:301041
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Craniosynostosis, Severe platyspondyly, Sacral dimple, Increased intervertebral space, Narrow gre... ORPHA:508533
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fusion OMIM:263540
4Q21 Microdeletion Syndrome
Kyphosis, Small hand, Short neck, Scoliosis, Micromelia, Short foot, Short palm, Toe syndactyly ORPHA:238750
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar vertebrae OMIM:252930
Harrod Syndrome
Kyphosis, Failure to thrive, Arachnodactyly, Scoliosis, Abnormal shoulder morphology, Abnormal pe... ORPHA:2115
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short distal phalanx of finger, Talipes equinovarus, Abnormal cartilage matrix, Abnormal bone str... ORPHA:86822
Sjögren-Larsson Syndrome
Kyphosis, Joint stiffness, Scoliosis ORPHA:816
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
19P13.12 Microdeletion Syndrome
Kyphosis, Clinodactyly of the 5th finger, Toe clinodactyly, Deep plantar creases, Craniosynostosi... ORPHA:254346
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Flexion contracture, Hand tremor, Short neck, Scoliosis, Camptodactyly, Elbow fle... OMIM:618947
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Pes cavus, Scoliosis OMIM:610743
Hurler Syndrome
Joint stiffness, Kyphosis, Short clavicles, Coxa valga, Flexion contracture, Calvarial hyperostos... OMIM:607014
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Vertebral segmentation defect, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Synosto... ORPHA:1005
Martsolf Syndrome 1
Short toe, Thoracic scoliosis, Lumbar hyperlordosis, Talipes equinovarus, Slender ulna, Tracheoma... OMIM:212720
Coffin-Lowry Syndrome
Short distal phalanx of finger, Kyphosis, Short metacarpal, Scoliosis, Abnormal form of the verte... ORPHA:192
Wieacker-Wolff Syndrome
Kyphosis, Talipes equinovarus, Congenital foot contractures, Micrognathia, Short neck, Scoliosis,... OMIM:314580
Pelger-Huet Anomaly
Kyphosis, Failure to thrive, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metacarpal... OMIM:169400
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Biconcave vertebral bodies, Scoliosis OMIM:236200
Gm1 Gangliosidosis
Kyphosis, Joint stiffness, Failure to thrive, Camptodactyly of finger, Platyspondyly, Scoliosis, ... ORPHA:354
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Hemivertebrae, Decreased calvarial ossification, Short... OMIM:276820
Tessadori-Van Haaften Neurodevelopmental Syndrome 4