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Gene: Col12a1 MGI:88448

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
collagen, type 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.

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
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... OMIM:620386
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... OMIM:616668
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive OMIM:600121
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... OMIM:610687
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... OMIM:619598
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... OMIM:265900
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... ORPHA:970
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu val... ORPHA:3115
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Congenital Muscular Dystrophy Without Intellectual Disability
Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Kyphoscoliosis, Hammertoe, Distal amyotrophy, Action tremor OMIM:180800
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Ck Syndrome
Slender build, Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morpholog... OMIM:300831
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis ORPHA:93304
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Upper limb muscle weakness, Distal amyotrophy, Kyphoscoliosis, Foot dorsiflexor weakness OMIM:605588
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Abnorm... ORPHA:94068
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... OMIM:618392
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... OMIM:255710
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... ORPHA:50811
Pseudoachondroplasia
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... ORPHA:750
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... OMIM:277950
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Myopathy, Talipes equinovarus, Type 1 muscle fiber p... ORPHA:597
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Spondyloepiphyseal Dysplasia, Stanescu Type
Kyphoscoliosis, Coxa valga, Vertebral wedging, Platyspondyly, Internal tibial torsion, Beaking of... OMIM:616583
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Kyphoscoliosis, Dystonia OMIM:616684
Spondylometaphyseal Dysplasia, Pagnamenta Type
Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, S... OMIM:619638
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... OMIM:602080
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Split hand, Talipes equinovarus, Kyphoscoliosis OMIM:607831
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... OMIM:132400
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Kyphoscoliosis, Abnormal toe morphology, Muscular dystrophy,... ORPHA:459033
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... OMIM:617719
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:101081
Charcot-Marie-Tooth Disease Type 4D
Postural tremor, Kyphoscoliosis, Split hand, Upper limb amyotrophy, Hammertoe, Distal lower limb ... ORPHA:99950
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal form of the... ORPHA:1486
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Broad hallux, Kyphoscoliosis, Atlantoaxial abnormality, Broad thumb ORPHA:3433
Brachyolmia Type 1, Toledo Type
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... OMIM:271630
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Ulnar claw, Limb muscle weakness, Foot ... OMIM:118220
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Spondylometaphyseal Dysplasia, Corner Fracture Type
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... OMIM:184255
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... ORPHA:2204
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... OMIM:612847
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Parkinson-Dementia Syndrome
Tremor, Kyphoscoliosis OMIM:260540
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... OMIM:600384
Charcot-Marie-Tooth Disease, Type 4B2
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Talipes equinovarus, Ulnar claw, Foot d... OMIM:604563
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Ulnar claw, Limb muscle weakness, Foot ... OMIM:118200
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ... OMIM:613848
Maternal Uniparental Disomy Of Chromosome 9
Short neck, Abnormal vertebral morphology, Kyphoscoliosis, Hamstring contractures ORPHA:96183
Pseudoachondroplasia
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... OMIM:177170
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... OMIM:616897
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... ORPHA:1310
Achondroplasia
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... OMIM:100800
Femoral-Facial Syndrome
Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Coxa vara, Abnormal fibula... ORPHA:1988
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis ORPHA:101075
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, A... OMIM:618011
Atelosteogenesis, Type I
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... OMIM:108720
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... OMIM:609223
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:600081
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... 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, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors... OMIM:617087
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, V... OMIM:617952
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Cranio-Osteoarthropathy
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... ORPHA:1525
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Genu valgum, Vertebral segmentation defect, Platyspon... ORPHA:85198
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Kyphoscoliosis, Split hand, Generalized amyotrophy, Scoliosis, Limb muscle weakness OMIM:614707
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Pes cavus OMIM:611225
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Micrognathia, Hip dislocation, O... ORPHA:2484
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Small for gestational age, Genu valgum, Slender long bones with na... OMIM:608154
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... OMIM:147891
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Abnormality of the knee, Lumbar hyperlordosis, Abnormal intervertebral disk morp... ORPHA:99642
Atelosteogenesis Type Ii
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ... ORPHA:56304
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Short neck, Tho... OMIM:619542
Intellectual Developmental Disorder, X-Linked 19
Scoliosis, Kyphoscoliosis OMIM:300844
Gorham-Stout Disease
Osteopenia, Abnormal pelvis bone morphology, Osteomyelitis, Osteolysis involving bones of the upp... ORPHA:73
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Kyphoscoliosis OMIM:236660
Grant Syndrome
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... ORPHA:2097
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... OMIM:619574
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Proteus Syndrome
Kyphoscoliosis, Mandibular hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Cal... OMIM:176920
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Metatarsus adductus, Vertebra... ORPHA:3101
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... OMIM:251450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... ORPHA:93360
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Irregularity of vertebral bodies, Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal f... OMIM:609324
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Skeletal muscle atrophy, Kyphosis, Scoliosis ORPHA:101078
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Postaxial polydactyly, Kyphoscoliosis OMIM:612913
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... OMIM:234250
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... OMIM:208230
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Joint contracture, Kyphoscoliosis OMIM:617977
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... OMIM:241530
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... ORPHA:157965
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Prenata... OMIM:618393
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, F... ORPHA:75840
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis OMIM:615066
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300554
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Enlarged epiphyses, Coxa vara, Abnormal shoulder morphology, Ir... ORPHA:1159
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Hypertrophic Neuropathy Of Dejerine-Sottas
Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Scoliosis, Ulnar claw, Distal lower lim... OMIM:145900
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,... ORPHA:3409
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... OMIM:277720
Leukodystrophy, Hypomyelinating, 17
Flexion contracture, Kyphoscoliosis OMIM:618006
Intellectual Developmental Disorder, X-Linked 111
Kyphoscoliosis, Dystonia OMIM:301107
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... OMIM:259600
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... OMIM:609325
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Cervical kyphosis, Micromelia, Short neck, Bowing of the legs, Quadricep... OMIM:255800
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... OMIM:607326
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Pr... ORPHA:628
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Microretrognathia, Hip contracture, Pes planus, Kyphoscoliosis, Hyperlordosis, Coxa valga, Microg... OMIM:618363
Episodic Ataxia Type 1
Kyphoscoliosis, Choreoathetosis, Calf muscle hypertrophy, Scoliosis, Hand clenching ORPHA:37612
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:264700
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb... ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... OMIM:277440
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Overlapping toe, Camptodactyly of finger, Thoracolum... OMIM:114300
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Atelosteogenesis, Type Ii
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in... OMIM:256050
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Charcot-Marie-Tooth Disease, Type 4A
Ulnar claw, Distal amyotrophy, Hammertoe, Kyphoscoliosis OMIM:214400
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... ORPHA:93333
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Ulnar deviation of the hand, Limb joint contracture, Kyphoscoliosis OMIM:612079
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... ORPHA:3041
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c... OMIM:307800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Metaphyseal widening, Coxa... OMIM:608940
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... OMIM:184252
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli... OMIM:230600
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kypho... ORPHA:3098
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle atrophy, Tapered finger,... OMIM:612350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Ob... OMIM:618395
Zimmermann-Laband Syndrome 3
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan... OMIM:618658
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... OMIM:602111
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2769
Multiple Epiphyseal Dysplasia Type 4
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... ORPHA:93307
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis OMIM:126550
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Facial hypotonia, Kyphoscoliosis, Short neck, Tremor, Flexion contracture, Small ... OMIM:300055
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Camptodactyly of 2n... OMIM:609128
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Kyphoscoliosis, Dystonia OMIM:618230
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... ORPHA:249
Rhizomelic Chondrodysplasia Punctata, Type 1
Rhizomelia, Kyphoscoliosis, Flexion contracture, Flared metaphysis, Coronal cleft vertebrae OMIM:215100
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar... OMIM:230650
Primary Dystonia, Dyt4 Type
Torticollis, Generalized dystonia, Upper limb postural tremor, Kyphoscoliosis, Blepharospasm, Lar... ORPHA:98805
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... OMIM:301900
Spastic Paraplegia 20, Autosomal Recessive
Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Short foot, Distal amyotrophy, ... OMIM:275900
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Hip dysplasia, Areflexia ... OMIM:611890
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Hypocalcemic Vitamin D-Dependent Rickets
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... ORPHA:289157
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension, Short metatarsal... OMIM:180870
Anauxetic Dysplasia 2
Metaphyseal dysplasia, Hypoplasia of the femoral head, Ovoid vertebral bodies, Thoracolumbar kyph... OMIM:617396
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le... OMIM:608728
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinodactyly of the 5th finger ORPHA:3454
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Foot oligodactyly, Scoliosis OMIM:601357
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertroph... OMIM:300280
Dent Disease 1
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... OMIM:300009
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... OMIM:607634
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Leukodystrophy, Hypomyelinating, 3
Joint contracture, Lower limb amyotrophy, Kyphoscoliosis OMIM:260600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Lumbar hyperlordosis, Micromelia, Short neck, Delayed epiphyseal ossification, Genu... OMIM:602557
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Scholte Syndrome
Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot OMIM:300977
Kniest Dysplasia
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Short neck, Abnormal cartilage collagen, ... OMIM:156550
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Achilles tendon contracture, Decreased pate... OMIM:615290
Achondroplasia
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Bruck Syndrome 2
Osteopenia, Flexion contracture, Elbow flexion contracture, Femoral bowing, Increased susceptibil... OMIM:609220
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Tremor, Choreoathetosis, Dystonia, Joint contracture OMIM:617664
Chst3-Related Skeletal Dysplasia
Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormal form of the vertebral... ORPHA:263463
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral ... ORPHA:1354
Ck Syndrome
Long toe, Long fingers, Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Cryptorchidism, Hy... OMIM:607143
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol... OMIM:614856
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Flexion contracture of finger, Bowing of the long bones, Camptodactyly... ORPHA:3206
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology ORPHA:1548
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis, Brachydactyly, Aplasia/hypoplasia of the e... OMIM:146000
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... OMIM:606612
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphys... OMIM:300232
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Kyphoscoliosis, Flexion contracture, Choreoathetosis, Dystonia, Limb hyp... ORPHA:59
X-Linked Charcot-Marie-Tooth Disease Type 5
Skeletal muscle hypertrophy, Kyphosis, Tremor, Scoliosis ORPHA:99014
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Kyphoscoliosis OMIM:615541
Pachydermoperiostosis
Osteomyelitis, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, Clubbing of to... ORPHA:2796
Foxg1 Syndrome
Choreoathetosis, Kyphoscoliosis, Scoliosis, Dystonia ORPHA:561854
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Failure to thrive, Osteoporosis, Scoliosis OMIM:618234
Congenital Disorder Of Glycosylation, Type Iik
Diaphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis OMIM:614727
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... OMIM:122860
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Subperiosteal bo... OMIM:618188
Spinocerebellar Ataxia, Autosomal Recessive 20
Kyphoscoliosis, Macroglossia, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, Brachy... OMIM:616354
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Charcot-Marie-Tooth Disease, Type 4D
Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe, Distal amyotrophy OMIM:601455
Frank-Ter Haar Syndrome
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... ORPHA:137834
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... ORPHA:178148
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cerv... ORPHA:48431
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta ORPHA:2983
Clark-Baraitser syndrome
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short p... OMIM:300602
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Kyphosis, Failure to thrive, Flexion contracture OMIM:618237
Dystonia-Deafness Syndrome 1
Generalized dystonia, Oculogyric crisis, Femoral retroversion, Kyphoscoliosis, Leg dystonia OMIM:607371
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... OMIM:618019
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed... OMIM:610968
Joubert Syndrome 18
Bowing of the long bones, Postaxial polydactyly, Kyphoscoliosis, Talipes equinovarus, Camptodactyly OMIM:614815
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ... OMIM:616723
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Contractural Arachnodactyly, Congenital
Hip contracture, Bowing of the long bones, Congenital kyphoscoliosis, Arachnodactyly, Kyphoscolio... OMIM:121050
Spondyloepimetaphyseal Dysplasia, Shohat Type
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... ORPHA:93352
Flynn-Aird Syndrome
Kyphoscoliosis OMIM:136300
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis ORPHA:276630
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffness, Genu valgum... OMIM:252605
Rahman Syndrome
Talipes equinovarus, Kyphoscoliosis, Camptodactyly OMIM:617537
Coffin-Siris Syndrome 6
Diaphragmatic eventration, Clinodactyly, Kyphoscoliosis, Brachydactyly OMIM:617808
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Rocker bottom foot, Kyphoscoliosis, Camptodactyly of finger, Microg... OMIM:610758
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Talipes equinovarus, Split hand, Acute rhabdomyolysis, Kyphoscoliosis OMIM:604168
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Obesity, Talipes equinovarus, Scoliosis OMIM:616756
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... OMIM:210710
Crisponi/Cold-Induced Sweating Syndrome 1
Short palm, Facial palsy, Kyphoscoliosis, Short neck, Tapered finger, Elbow flexion contracture, ... OMIM:272430
Mucopolysaccharidosis, Type Iva
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Geroderma Osteodysplasticum
Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Recurrent fract... OMIM:231070
Kniest Dysplasia
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla... ORPHA:485
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Mucopolysaccharidosis Type 4
Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal canal stenosis,... ORPHA:582
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Limitation of joint mobility, Sacrococcygeal pilonidal abnormality, Hip dislocation, Slender long... ORPHA:2840
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Anauxetic Dysplasia 3
Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobility, Metaphyseal cupping, Hip sub... OMIM:618853
Carpenter Syndrome
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... ORPHA:65759
Microcephalic Primordial Dwarfism, Montreal Type
Micrognathia, Cryptorchidism, Kyphosis, Reduced bone mineral density, Vertebral segmentation defe... ORPHA:2617
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Joint ... ORPHA:1901
Cerebrooculofacioskeletal Syndrome 1
Rocker bottom foot, Kyphoscoliosis, Coxa valga, Flexion contracture, Elbow flexion contracture, K... OMIM:214150
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... ORPHA:2658
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Failure to thrive OMIM:620007
Joint Laxity, Short Stature, And Myopia
Talipes equinovarus, Cervical kyphosis, Kyphoscoliosis OMIM:617662
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ... OMIM:618291
Basilar Impression, Primary
Limb muscle weakness, Kyphoscoliosis, Short neck OMIM:109500
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Bowing of the legs OMIM:146350
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Flexion contracture ORPHA:75496
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M... OMIM:249420
Alpha-Mannosidosis
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplas... ORPHA:61
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... ORPHA:89936
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Failure to thrive, Joint hyperflexibility ORPHA:319199
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... ORPHA:536471
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Long fi... OMIM:309583
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Oste... ORPHA:536467
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... ORPHA:666
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Abnormal vertebral mor... OMIM:616817
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Hyp... OMIM:253010
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly ORPHA:412035
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:98855
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Spinal rigidi... OMIM:254090
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Warburg Micro Syndrome 1
Overlapping toe, Kyphoscoliosis OMIM:600118
Spondyloocular Syndrome
Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Unilateral cry... OMIM:605822
Paternal Uniparental Disomy Of Chromosome 5
Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis ORPHA:96190
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Tremor, Resting tremor, Kyphoscoliosis ORPHA:3077
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... OMIM:609162
Masa Syndrome
Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb OMIM:303350
Schaaf-Yang Syndrome
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexi... OMIM:615547
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... OMIM:615349
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Lower limb amyotrophy, Intention tremor ORPHA:466722
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Proximal m... ORPHA:99956
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... OMIM:146300
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Decreased testicular size, Joint hyperflexibility ORPHA:1875
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Kyphoscoliosis, Sho... OMIM:193700
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... ORPHA:140
Developmental And Epileptic Encephalopathy 41
Flexion contracture, Kyphoscoliosis OMIM:617105
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis ORPHA:447760
Infantile Systemic Hyalinosis
Osteopenia, Osteomalacia, Micromelia, Short neck, Camptodactyly of finger, Recurrent fractures, J... ORPHA:2176
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... OMIM:620076
Faciocardiomelic Syndrome
Osteopenia, Large for gestational age, Micrognathia, Cuboid-shaped vertebral bodies, Slender long... OMIM:612731
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Cryptorchidism, Metaphyseal widening, Hip d... OMIM:620083
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis OMIM:300886
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... OMIM:311300
Flynn-Aird Syndrome
Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis ORPHA:2047
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis OMIM:609541
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Acromesomelic Dysplasia 1
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... OMIM:602875
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, ... ORPHA:98863
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Flexion contracture, Congenit... ORPHA:115
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Bowed humerus, Kyphoscoliosis, Platyspondyly, Vertebral compression fractu... OMIM:616507
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb ORPHA:2181
Three M Syndrome 3
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Slender long bo... OMIM:614205
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, ... ORPHA:1798
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o... OMIM:184253
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Catel-Manzke Syndrome
Joint laxity, Short humerus, Short metacarpal, Short femur, Short neck, Micrognathia, Cryptorchid... OMIM:616145
Autism Spectrum Disorder Due To Auts2 Deficiency
Small for gestational age, Micrognathia, Kyphosis, Cryptorchidism, Abnormal foot morphology, Cong... ORPHA:352490
Cdkl5-Deficiency Disorder
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis ORPHA:505652
Acrootoocular Syndrome
Small hypothenar eminence, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Kyphosco... ORPHA:2980
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Scoliosis, Broad ... OMIM:277600
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Osteoporosis, Knee osteoarthritis, Coxa... ORPHA:2848
Cerebrooculofacioskeletal Syndrome 2
Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis OMIM:610756
Marshall-Smith Syndrome
Bowing of the long bones, Craniosynostosis, Reduced bone mineral density, Increased susceptibilit... ORPHA:561
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... ORPHA:1858
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Three M Syndrome 1
Pes planus, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Hip... OMIM:273750
Crisponi Syndrome
Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... ORPHA:1545
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... OMIM:271510
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Kyphosis, Abnormal foot morpholo... ORPHA:3219
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... ORPHA:98853
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... ORPHA:392
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Spondylometaphyseal Dysplasia, Schmidt Type
Metaphyseal dysplasia, Abnormality of the epiphysis of the femoral head, Kyphoscoliosis, Coxa var... ORPHA:93316
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteolysis, Slende... ORPHA:2774
Sialidosis Type 2
Kyphosis, Flexion contracture, Osteoporosis, Pedal edema ORPHA:87876
Intellectual Developmental Disorder, Autosomal Dominant 26
Small for gestational age, Micrognathia, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Art... OMIM:615834
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Back pain, Cervical spondylosis, Kyphoscoliosis ORPHA:199354
Pycnodysostosis
Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi... ORPHA:763
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... ORPHA:98914
Marinesco-Sjogren Syndrome
Pes planus, Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scolio... OMIM:248800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Micrognathia, Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped dist... ORPHA:73230
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Metaphyseal widening,... OMIM:271640
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Cryptorchidism, Sc... OMIM:619797
Stuve-Wiedemann Syndrome 1
Short neck, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, S... OMIM:601559
Ane Syndrome
Multiple joint contractures, Generalized amyotrophy, Kyphoscoliosis, Ulnar deviation of the hand ORPHA:157954
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Kyphosis, Tapered finger OMIM:618512
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Short neck, ... ORPHA:2347
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Pes planus, Sandal gap, Kyphosis, Cryptorchidism, Small hand, Short foot, Abdominal... OMIM:300354
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology, Decreased body weight OMIM:614886
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractur... ORPHA:1652
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular... OMIM:143095
15Q24 Microdeletion Syndrome
Joint laxity, Small for gestational age, Proximal placement of thumb, Abnormal thumb morphology, ... ORPHA:94065
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Rhizomelia, Kyphoscoliosis, Short neck, Broad femoral neck, Small hand, Hypop... OMIM:611209
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Tremor, Focal dystonia, Blepharospasm, Tremor by anatomical site ORPHA:99750
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Split hand, Obesity, Areflexia of lower limbs, Scoliosis, Pes cavus OMIM:618124
Monosomy 18P
Brachydactyly, Generalized dystonia, Kyphoscoliosis, Short neck ORPHA:1598
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... ORPHA:2655
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Cryptorchidis... ORPHA:3121
Sandhoff Disease
Kyphosis, Failure to thrive ORPHA:796
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hyperlordosis... ORPHA:2616
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Lower li... OMIM:615761
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Kyphoscoliosis, Cox... OMIM:617425
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... ORPHA:157215
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... OMIM:259770
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor... ORPHA:2050
Stickler Syndrome, Type I
Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, Osteoarthri... OMIM:108300
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Short metatarsal, Spin... OMIM:608328
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Short toe, Cryptorchidism, Obesity, Broad foot, Decreased testicular siz... ORPHA:3085
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly OMIM:300337
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Kyphoscoliosis, Deviation of the 5th toe, Short neck, Slender toe, Scoliosis, Clinodactyly, Slend... ORPHA:391408
Hypercholanemia, Familial 1
Failure to thrive, Rickets OMIM:607748
Spinocerebellar Ataxia-Dysmorphism Syndrome
Genu recurvatum, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Spina b... ORPHA:1185
Intellectual Developmental Disorder, Autosomal Dominant 53
Cryptorchidism, Short femur, Joint hypermobility, Genu valgum OMIM:617798
Cole-Carpenter Syndrome 2
Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosyn... OMIM:616294
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, 2-3 toe syndactyly, Scoliosis ORPHA:391307
Osteogenesis Imperfecta, Type I
Osteopenia, Biconcave flattened vertebrae, Recurrent fractures, Femoral bowing, Increased suscept... OMIM:166200
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... ORPHA:583
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia OMIM:193100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... OMIM:618476
Arthrogryposis, Distal, Type 5
Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Distal arthrogryposi... OMIM:108145
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... OMIM:619727
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Limb undergrowth OMIM:608149
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia, Clinodactyly of the 5th finger OMIM:619422
Tetrasomy 15Q26
Arachnodactyly, Kyphoscoliosis, Camptodactyly OMIM:614846
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Larsen-Like Syndrome
Kyphoscoliosis, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5th ... OMIM:608545
Warburg Micro Syndrome 3
Clinodactyly of the 5th finger, Decreased muscle mass, Flexion contracture, Kyphoscoliosis OMIM:614222
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Macroglossia, Talipes equinovarus, Camptodactyly,... ORPHA:397709
Arthrogryposis Multiplex Congenita 5
Dystonia, Rocker bottom foot, Kyphoscoliosis, Short neck, Flexion contracture, Elbow flexion cont... OMIM:618947
Fanconi Renotubular Syndrome 3
Rickets, Bowing of the legs OMIM:615605
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Bowing of the legs ORPHA:89937
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Hypoplasia of the musculature, Ankle flexion contracture, Hyperlordosis, Kyphosc... ORPHA:2020
Myopathy, Centronuclear, 2
Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, Pes cavus OMIM:255200
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets, Death in adolescence, Death in childhood, Failure to thrive OMIM:560000
Cardiac-Valvular Ehlers-Danlos Syndrome
Hallux valgus, Sandal gap, Thoracolumbar scoliosis, Kyphoscoliosis, Long fingers, Calcaneovalgus ... ORPHA:230851
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Lumbar hyperlordosis, Aplasia/Hypoplasia of the clavi... ORPHA:2839
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... ORPHA:35173
8Q24.3 Microdeletion Syndrome
Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Finger clinodactyly, Clin... ORPHA:508488
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Kyphoscoliosis, Congenital diaphragmatic hernia, Split ha... OMIM:200980
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Cachexia... ORPHA:85293
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi... OMIM:249700
Lopes-Maciel-Rodan Syndrome
Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis OMIM:617435
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur... OMIM:255995
Baralle-Macken Syndrome
Pes planus, Kyphosis, Obesity, Tapered finger OMIM:619255
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... ORPHA:93274
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Cervical kyphosis, Kyphoscoliosis, Tapered finger, Myopathy, Scoliosis, Ar... ORPHA:2953
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Kyphoscoliosis, Short neck, Postaxial polydactyly, Punctate vertebral calcifications,... OMIM:302960
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... OMIM:119600
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis ORPHA:324410
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Joint hypermobility, Micr... OMIM:619951
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Kyphoscoliosis ORPHA:53721
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Talipes, Spinal rigidity, Micrognathia, Kyphosis, Achilles t... OMIM:620351
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... OMIM:609945
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... OMIM:187600
Harrod Syndrome
Arachnodactyly, Kyphosis, Cryptorchidism, Abnormal shoulder morphology, Joint hyperflexibility, A... ORPHA:2115
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Arachnodactyly, Biconcave vertebral bodies, Kyphoscoliosis, Scoliosis OMIM:236200
Aspartylglucosaminuria
Pes planus, Abnormal morphology of ulna, Joint stiffness, Arthritis, Scoliosis, Anterior beaking ... ORPHA:93
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Congenital diaphragmatic hernia, Kyphoscoliosis, Scol... ORPHA:96170
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus... ORPHA:2479
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Truncal obesity, Scoliosis ORPHA:2429
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Micrognathia, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Joint contracture OMIM:615381
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... ORPHA:2911
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip dislocation, Micro... ORPHA:171436
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Cryptorc... ORPHA:254346
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Decreased bo... OMIM:618265
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Short neck, Micrognathia, Talipes equinovarus, Broad distal pha... OMIM:300990
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... OMIM:617821
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... ORPHA:2916
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar... ORPHA:508533
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Sponastrime Dysplasia
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... ORPHA:93357
Subaortic Stenosis-Short Stature Syndrome
Short neck, Micrognathia, Kyphosis, Obesity, Scoliosis, Synostosis of carpal bones ORPHA:3191
Martsolf Syndrome 1
Joint laxity, Pes planus, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Micrognathi... OMIM:212720
Wieacker-Wolff Syndrome, Female-Restricted
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck,... OMIM:301041
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
19P13.3 Microduplication Syndrome
Long fingers, Clinodactyly, Kyphoscoliosis ORPHA:447980
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo... ORPHA:488434
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Rickets OMIM:602722
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Thoracic scoliosis, Kyphoscoliosis, Metatarsus adductus, Small hand, Genu valgum, Sh... ORPHA:300570
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... OMIM:601701
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Abnormal mitochondrial shape, Flexion contracture, Polydactyly, Failu... ORPHA:17
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida oc... ORPHA:64755
Mucopolysaccharidosis, Type Iiic
Beaking of vertebral bodies, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Campomelic Dysplasia
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal o... OMIM:114290
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Micrognathia, Fused cervical vertebrae, Abnormal hip bone mo... ORPHA:2522
Schwartz-Jampel Syndrome
Micromelia, Short neck, Micrognathia, Coxa vara, Wrist flexion contracture, Death in infancy, Abn... ORPHA:800
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm ORPHA:238750
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Hemivertebrae, Macroglossia, Talipes equino... OMIM:301040
Sjögren-Larsson Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:816
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry... ORPHA:86822
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... OMIM:276820
Chromosome 2P16.1-P15 Deletion Syndrome
Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Joi... OMIM:612513
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... ORPHA:2636
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, D... ORPHA:192
Pelger-Huet Anomaly
Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Pes cavus, Failure to thrive... OMIM:169400
Hurler Syndrome
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... OMIM:607014
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... ORPHA:2502
Wieacker-Wolff Syndrome
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ... OMIM:314580
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Kyphoscoliosis, Partial duplication of thumb phalanx, Clinodactyly OMIM:618348
Mcdonough Syndrome
Cachexia, Micrognathia, Kyphosis, Cryptorchidism, Scoliosis ORPHA:2471
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Hip dislocation, Vertebral segmentat... ORPHA:1005
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Brachydactyly, Kyphoscoliosis, Partial duplication of thumb phalanx, Partial dupli... OMIM:616331
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Abnormal form of the vertebral... ORPHA:354
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... ORPHA:2311
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Short neck, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of t... OMIM:271665
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Talipes, Short neck, Micrognathia, Kyphosis, Preaxial... ORPHA:261318
Autosomal Recessive Spastic Paraplegia Type 23
Kyphoscoliosis ORPHA:101003
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Bilateral cryptorchidism, Kyphosis, Bo... ORPHA:3042
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu... OMIM:265000
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli... ORPHA:79107
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Macroorchidism, Osteomalacia, Recurrent fractures, Fibrous dyspl... ORPHA:562
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Scoliosis, Micrognathia ORPHA:2598
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Micrognathia, Large for gestational age, Kyphosis, Wide anterior fontanel OMIM:618272
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Clinodactyly of the 5th finger, Kyphoscoliosis OMIM:620075
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Spondyloenchondrodysplasia With Immune Dysregulation
Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Meta... OMIM:607944
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:219080
Marden-Walker Syndrome
Arachnodactyly, Short neck, Micrognathia, Kyphosis, Wide anterior fontanel, Cryptorchidism, Radio... OMIM:248700
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:610475
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... OMIM:304120
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Arachnodactyly, Kyphoscoliosis, Cervical spine instabili... OMIM:615582
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Failure to thrive, Rickets OMIM:211600
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Flat glenoid fossa, Hemivertebrae, Flexion contracture, Cutaneous ... OMIM:224690
Gracile Bone Dysplasia
Death in infancy, Failure to thrive, Flared metaphysis, Slender long bone, Decreased skull ossifi... OMIM:602361
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Abnormality of the musculature of the lower limbs, Structural foot deformity, Kyphosis, Hip dislo... ORPHA:464282
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Long toe, Short humerus, Short femur, Irregular sclerotic endplates, Kyphoscoliosis, ... ORPHA:3455
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphosc... ORPHA:536532
2Q31.1 Microdeletion Syndrome
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... ORPHA:251014
Pontocerebellar Hypoplasia, Type 10
Tapered finger, Short neck, Kyphoscoliosis, Limb hypertonia OMIM:615803
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... OMIM:253220
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Kyphoscoliosis, Atlantoaxial instability, Myopathy, Talipes equinovarus,... OMIM:614557
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Pedal edema, Pa... ORPHA:77259
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Micrognathia, Kyphos... ORPHA:958
Cartilage-Hair Hypoplasia
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Me... OMIM:250250
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Small for gestational age, Long foot, Short neck, Hypoplast... OMIM:264090
Momo Syndrome
Short neck, Large for gestational age, Obesity, Femoral bowing, Large hands, Short sternum, Abnor... ORPHA:2563
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Failure to thrive, Rickets OMIM:611590
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Palmoplantar cutis laxa, Tibi... OMIM:616482
Prader-Willi Syndrome
Osteopenia, Syndactyly, Failure to thrive in infancy, Kyphosis, Acromicria, Cryptorchidism, Osteo... OMIM:176270
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Obesity, Genu valgum,... OMIM:618443
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Scoliosis OMIM:609008
Melnick-Needles Syndrome
Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos... OMIM:309350
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Limb undergrowth, Joint contracture, Kyphoscoliosis OMIM:618005
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Bicoronal syn... OMIM:619718
Hajdu-Cheney Syndrome
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Decreased skull ossification, Parti... ORPHA:955
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Hip contracture, Overlapping toe, Rocker bottom foot, Kyphoscoliosis, Tapered finger, 4-5 toe syn... ORPHA:488642
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Talipes, Kyphoscoliosis, Severe generalized osteoporosis, Micrognathia, Hypoplas... OMIM:210730
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Long foot, Slender build, Scoliosis OMIM:300676
Fanconi Renotubular Syndrome 2
Osteopenia, Recurrent fractures, Rickets, Osteomalacia OMIM:613388
Fanconi-Bickel Syndrome
Osteopenia, Bowing of the long bones, Failure to thrive, Rickets ORPHA:2088
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compres... OMIM:219090
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis ORPHA:79327
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... OMIM:602535
De Barsy Syndrome
Decreased muscle mass, Kyphoscoliosis, Coxa vara, Athetosis, Talipes equinovarus, Adducted thumb ORPHA:2962
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Decreased testicular size, Proximal placement of thumb, Cryptorchidism OMIM:615433
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis... OMIM:207410
Tatton-Brown-Rahman Syndrome
Widely spaced toes, Short toe, Kyphoscoliosis ORPHA:404443
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Tapered finger, Micr... ORPHA:193
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... ORPHA:2976
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis ORPHA:702
Atypical Rett Syndrome
Short foot, Kyphosis, Small hand, Scoliosis ORPHA:3095
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Large for gestational age, Micrognathia, Kyphosis, Flexion cont... ORPHA:314588
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Micrognathia, Abn... ORPHA:2789
Neu-Laxova Syndrome
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L... ORPHA:2671
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Pes cavus, Scoliosis OMIM:610743
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral ... OMIM:109400
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... ORPHA:3472
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... ORPHA:83
Hemifacial Atrophy, Progressive
Kyphosis, Short mandibular rami OMIM:141300
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Osteomalacia, Camptodactyly of finger, Kyphosis, Cryptorchidism, Rickets, Hip ... OMIM:309000
Renal Tubular Acidosis, Distal, 1
Pathologic fracture, Osteomalacia OMIM:179800
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Rickets, Reduced bone mineral density, Scoli... OMIM:613658
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Kyphosis, Cryptorchidism, Flexion contracture, Osteoporosis, Small hand, Increased bo... ORPHA:398069
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... OMIM:600920
3Q27.3 Microdeletion Syndrome
Arachnodactyly, Kyphoscoliosis ORPHA:397695
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis, Truncal obesity OMIM:610489
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Sclerosteosis 1
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... OMIM:269500
Intellectual Developmental Disorder, Autosomal Dominant 57
Pes planus, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the ... OMIM:618050
Jaberi-Elahi Syndrome
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive, Joi... OMIM:617988
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormal toe morphology, Abnormal finger morphology, Kyphoscoliosis OMIM:163200
Intellectual Developmental Disorder, Autosomal Recessive 78
Clinodactyly of the 5th finger, Kyphoscoliosis, Brachydactyly OMIM:620237
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Short foot, Hip dysplasia,... ORPHA:500055
Spastic Paraplegia 46, Autosomal Recessive
Ankle clonus, Kyphosis, Pes cavus, Scoliosis OMIM:614409
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Tali... ORPHA:573278
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Congenital Heart Defects And Skeletal Malformations Syndrome
Pes planus, Arachnodactyly, Sandal gap, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyly, Clino... OMIM:617602
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital kyphoscoliosis, Arachnodactyly, Kyphoscoliosis, Atlantoaxial ... ORPHA:536545
Mulibrey Nanism
Absent frontal sinuses, Hypoplastic frontal sinuses, Thickened cortex of long bones OMIM:253250
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scoliosis,... OMIM:230500
Monosomy 18Q
Arachnodactyly, Kyphoscoliosis, Tapered finger, Choreoathetosis, Talipes equinovarus, Atlantoaxia... ORPHA:1600
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Hip dislocation, Short neck OMIM:608776
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ... OMIM:134780
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Pes planus, Genu recurvatum, Kyphosis, Cryptorchidism, Scoliosis, Slender build ORPHA:364028
Kagami-Ogata Syndrome
Coxa valga, Diastasis recti, Kyphoscoliosis, Short neck ORPHA:254519
You-Hoover-Fong Syndrome
Clinodactyly, Kyphoscoliosis, Brachydactyly OMIM:616954
Hajdu-Cheney Syndrome
Kyphoscoliosis, Short neck, Tall lumbar vertebral bodies, Foot acroosteolysis, Osteolytic defects... OMIM:102500
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Finger joint hypermob... OMIM:618493
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Osteogenesis Imperfecta, Type Xx
Vertebral compression fracture, Kyphoscoliosis OMIM:618644
Myhre Syndrome
Vertebral fusion, Overlapping toe, Small for gestational age, Short neck, Joint stiffness, Crypto... OMIM:139210
Occipital Horn Syndrome
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Kyphosis, Capitate-ha... OMIM:304150
Classic Homocystinuria
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis ORPHA:394
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Rickets OMIM:607765
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Flexion contracture, Femoral bowing, Abnormal vertebral morphology, Elbow ankylosis, Short metaca... ORPHA:95699
Wrinkly Skin Syndrome
Osteopenia, Pes planus, Congenital hip dislocation, Kyphoscoliosis, Cryptorchidism, Generalized j... ORPHA:2834
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... OMIM:203500
Hurler-Scheie Syndrome
Camptodactyly of finger, Joint stiffness, Micrognathia, Kyphosis, Contracture of the distal inter... OMIM:607015
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Arachnodactyly, Kyphoscoliosis, Kyphosis, Slender toe, Camptodac... ORPHA:3063
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... ORPHA:2215
Cystinosis
Failure to thrive, Rickets ORPHA:213
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Pes planus, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Microg... ORPHA:476126
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Sclerosis of skull base, Sc... OMIM:130720
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, Cryptorchidism, 2-3 toe synd... ORPHA:404440
Emanuel Syndrome
Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphosis, Cryptorchidism, Scoliosis, Joi... OMIM:609029
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly, Obesity ORPHA:261222
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis, Micrognathia ORPHA:77300
3C Syndrome
Finger syndactyly, Death in infancy, Short neck, Micrognathia, Kyphosis, Missing ribs, Hemiverteb... ORPHA:7
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Short ribs, Co... OMIM:603116
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Cryptorchidism, Hip disloca... OMIM:610443
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Microretrognathia, Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Pr... OMIM:300966
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Stiff neck, Short neck, Micrognathia, Femoral bowing, Short long bone, Talipe... OMIM:617022
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Microgn... ORPHA:521426
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Scoliosis, Pes cavus, Proxim... OMIM:162300
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Micrognathia, Kyphosis, Sho... ORPHA:280
Myasthenic Syndrome, Congenital, 20, Presynaptic
Pes planus, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:617143
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Mgat2-Cdg
Osteopenia, Kyphosis, Scoliosis, Failure to thrive, Brachydactyly ORPHA:79329
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Kyphoscoliosis, Tremor, Kyphosis, Left ventricular noncompaction, Scoliosis, Synos... OMIM:300967
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Small proximal tibial epiphyses, S... ORPHA:96334
Rett Syndrome
Short foot, Kyphosis, Cachexia, Scoliosis OMIM:312750
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Lumbar hyperlordosis, Non-obstructive azoospermia, Kyphosis, Cryptorchidism, Osteopor... ORPHA:2232
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cryptorchidism, Abnormal sho... ORPHA:568
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Decreased mitochondrial number, Spinal rigidity ORPHA:352447
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Arthritis, Platyspondyly, ... ORPHA:1855
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Wrinkly Skin Syndrome
Osteopenia, Microretrognathia, Pes planus, Congenital hip dislocation, Kyphosis, Wide anterior fo... OMIM:278250
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Cryptorchidism, Hip dislocation, Joint hyperflexibili... ORPHA:96169
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Abnorm... OMIM:127000
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Kyphosis, Osteoarthritis, Hip disloc... ORPHA:828
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Rickets ORPHA:79303
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Sandal gap, Tapered finger, Micrognathia, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly o... OMIM:617061
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... OMIM:269150
Distal Deletion 12Q
Broad hallux, Overlapping toe, Kyphoscoliosis, Short neck, Elbow flexion contracture, 2-3 toe syn... ORPHA:96149
2P15P16.1 Microdeletion Syndrome
Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, P... ORPHA:261349
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Spinal canal st... ORPHA:1724
Mevalonic Aciduria
Kyphoscoliosis OMIM:610377
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Kyphosis, Contractures of ... OMIM:617527
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Abetalipoproteinemia
Myopathy, Distal lower limb muscle weakness, Talipes equinovarus, Kyphoscoliosis ORPHA:14
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Pes planus, Arachnodactyly, Craniosynostosis, Long finge... OMIM:616914
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Abnormal pelvic girdle bone morphology, Ect... ORPHA:3378
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Kyphosis ORPHA:457359
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis OMIM:106300
Cardiofacioneurodevelopmental Syndrome
Micrognathia, Kyphosis, Cryptorchidism, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Autosomal Recessive Robinow Syndrome
Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the 5th finger, Synostos... ORPHA:1507
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets, Large for gestational age OMIM:616026
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Aplastic clavicle, Micrognathia, Kyphosis, Wide anterior fontanel, Coronal cra... ORPHA:85199
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Scoliosis, Mesomel... OMIM:616894
Celiac Disease, Susceptibility To, 1
Weight loss, Failure to thrive, Osteoporosis, Rickets OMIM:212750
Mucolipidosis Type Ii
Hip contracture, Craniosynostosis, Limited wrist movement, Kyphosis, Limitation of joint mobility... ORPHA:576
Marfan Syndrome
Decreased muscle mass, Arachnodactyly, Kyphoscoliosis, Equinus calcaneus, Metatarsus adductus, Fl... OMIM:154700
Cog1-Cdg
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Short neck, Coxa valga, Vertebral s... ORPHA:263508
Leopard Syndrome 1
Scapular winging, Spina bifida occulta, Kyphoscoliosis, Short neck OMIM:151100
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Death in infancy, Kyphosis, Flexion contracture, Death in childhood, Failure to thrive OMIM:212065
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Osteomalacia, Recurrent fractures, Joint stiffness, Micrognathia, Kyphosis, Cry... ORPHA:534
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Prominent crus of helix,... OMIM:619194
Noonan Syndrome 14
Pes planus, Short neck, Cryptorchidism, Kyphosis, Pes valgus, Clinodactyly, Limited elbow extension OMIM:619745
Marfan Syndrome
Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ... ORPHA:558
Alkaptonuria
Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ... ORPHA:56
Genitopalatocardiac Syndrome
Micrognathia, Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly ORPHA:2075
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Arachnodactyly, Kyphoscoliosis, Platyspondyly, Talipes equinovarus, Progressive congenital scoliosis OMIM:225400
Multiple Endocrine Neoplasia Type 2
Hyperlordosis, Kyphoscoliosis, Proximal amyotrophy ORPHA:653
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Lar... OMIM:617011
Wolf-Hirschhorn Syndrome
Micrognathia, Abnormal form of the vertebral bodies, Vertebral fusion, Pseudoepiphyses of the met... OMIM:194190
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Kyphosis, Deviation of the 2nd finger, 2-3 toe syndactyly, Sc... ORPHA:464738
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Overlapping toe, Kyphoscoliosis, Short neck, Tibial bowing, Macroglossia... ORPHA:798
Alexander Disease
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Failure to thrive ORPHA:58
Alstrom Syndrome
Pes planus, Kyphosis, Truncal obesity, Hyperostosis frontalis interna, Scoliosis OMIM:203800
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Scoliosis, Cryptorchidism ORPHA:90322
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fingers, Wide anterior... ORPHA:401973
Rothmund-Thomson Syndrome, Type 2
Kyphoscoliosis, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm OMIM:268400
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Split hand, Flexion contracture, Tracheobronchomalacia, Pes cavus OMIM:309900
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Talipes, Joint stiffness, Metatarsus adductus, Kyphosis,... ORPHA:2461
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum OMIM:258850
Cutis Laxa, Autosomal Recessive, Type Iid
Joint contracture, Talipes equinovarus, Kyphoscoliosis, Camptodactyly OMIM:617403
Micro Syndrome
Micrognathia, Joint stiffness, Cryptorchidism, Kyphosis, Scoliosis ORPHA:2510
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Small for gestational... ORPHA:464306
Cockayne Syndrome B
Small for gestational age, Kyphosis, Cryptorchidism, Limitation of joint mobility, Osteoporosis, ... OMIM:133540
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss, Osteoporosis, Osteomalacia, Rickets ORPHA:309031
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Cachexia, Kyphosis, Scoliosis, Genu varum ORPHA:1969
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Kyphosis... ORPHA:464311
Sialidosis Type 1
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Micrognathia, Kyphosis, Cryptorchidism, Increased femoral anteversion, Death in childhood, Scolio... OMIM:619005
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma ORPHA:324737
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... OMIM:216340
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Fanconi-Bickel Syndrome
Failure to thrive, Rickets, Osteomalacia OMIM:227810
Incontinentia Pigmenti
Hemivertebrae, Kyphoscoliosis OMIM:308300
Monosomy 9Q22.3
Short neck, Large for gestational age, Kyphosis, Plantar pits, Joint hyperflexibility, Abnormalit... ORPHA:77301
Distal Renal Tubular Acidosis
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... ORPHA:18
Koolen-De Vries Syndrome Due To A Point Mutation
Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads, Joint laxity, Arac... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads, Joint laxity, Arac... ORPHA:363958
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Hallux valgus, Kyphoscoliosis, Synostosis involving the 1st metacarpal, Clinodactyly of the 5th f... ORPHA:466791
Mend Syndrome
Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fin... OMIM:300960
Cutis Laxa, Autosomal Recessive, Type Iic
Overlapping toe, Kyphoscoliosis, Knee flexion contracture, Talipes equinovarus, Camptodactyly, Ha... OMIM:617402
Primrose Syndrome
Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Metatarsus adduct... OMIM:259050
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, Hip dysplasia, Scoliosis ORPHA:261250
Brown-Vialetto-Van Laere Syndrome 1
Ankle clonus, Kyphosis, Scoliosis, Death in childhood OMIM:211530
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Short 5th metacarpal, Hypermo... ORPHA:99413
Mosaic Monosomy X
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Short 5th metacarpal, Hypermo... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Short 5th metacarpal, Hypermo... ORPHA:99226
Turner Syndrome
Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Short 5th metacarpal, Hypermo... ORPHA:881
Cerebrocostomandibular Syndrome
Death in infancy, Tracheomalacia, Micrognathia, Kyphosis, Clinodactyly of the 5th finger ORPHA:1393
Neurofibroma
Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Short foot, Scoliosis... OMIM:617140
Floating-Harbor Syndrome
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Kyphoscoliosis, Short neck, S... OMIM:136140
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Micrognathia, Kyphosis, Knee flexion contracture, Bilateral talipes equinovarus, Overlapping fingers OMIM:619708
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, 2-3 toe syndactyly, Scoliosis OMIM:616449
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Short neck, Tapered finger, Genu valgum, Macroglossia, Lower limb hypertonia, Tal... OMIM:309580
Proteus Syndrome
Hallux valgus, Finger syndactyly, Macroorchidism, Macrodactyly, Craniosynostosis, Metatarsus valg... ORPHA:744
Fucosidosis
Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae ORPHA:349
Cowden Syndrome
Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Failure to thrive, Brachydactyly ORPHA:201
Autosomal Recessive Ataxia, Beauce Type
Ankle clonus, Kyphosis, Pes cavus, Scoliosis ORPHA:88644
Pontocerebellar Hypoplasia, Type 17
Microretrognathia, Kyphosis OMIM:619909
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Clinodactyly, Radial deviation of finger, Micrognathia OMIM:609944
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Tapered fin... OMIM:303600
Restrictive Dermopathy 1
Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Flexion contracture, Osteolytic defec... OMIM:275210
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Cowden Syndrome 5
Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Scoliosis OMIM:615108
Cystinosis, Nephropathic
Failure to thrive in infancy, Metaphyseal widening, Rickets, Genu valgum, Weight loss, Hypophosph... OMIM:219800
Infantile Nephropathic Cystinosis
Failure to thrive, Rickets ORPHA:411629
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... ORPHA:97685
Cockayne Syndrome A
Hip contracture, Kyphosis, Cryptorchidism, Limitation of joint mobility, Ivory epiphyses of the p... OMIM:216400
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly, Kyphoscoliosis OMIM:618820
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Genu valgum, Large hands, Scoliosis ORPHA:363700
Cowden Syndrome 6
Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Scoliosis OMIM:615109
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Kyphosis, Cryptorchidism, Genu valgum, Slender long bone, A... ORPHA:636
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Cryptorchidism, Kyphosis,... ORPHA:818
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis ORPHA:2396
Floating-Harbor Syndrome
Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis of the capital fe... ORPHA:2044
Wilson Disease
Osteomalacia, Osteoarthritis, Osteoporosis, Pedal edema, Joint hypermobility OMIM:277900
Triosephosphate Isomerase Deficiency
Kyphosis, Failure to thrive, Death in adolescence, Death in infancy OMIM:615512
Williams Syndrome
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... ORPHA:904
Aspartylglucosaminuria
Joint laxity, Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Mac... OMIM:208400
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of... OMIM:135900
Rett Syndrome, Congenital Variant
Pes planus, Kyphosis, Talipes equinovarus, Scoliosis OMIM:613454
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Crypt... ORPHA:1606
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ... ORPHA:51608
Cowden Syndrome 1
Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Scoliosis OMIM:158350
Noonan Syndrome 1
Kyphoscoliosis, Short neck, Radial deviation of finger, Clinodactyly, Brachydactyly OMIM:163950
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Hemivertebrae ORPHA:500150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Cryptorchidism OMIM:619244
Atelis Syndrome 2
Pes planus, Sacral dimple, Micrognathia, Kyphosis, Clinodactyly OMIM:620185
Ramon Syndrome
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Decreased body weight OMIM:266270
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Tapered fi... ORPHA:268261
Acromegaly
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... ORPHA:963
Somatomammotropinoma
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... ORPHA:314769
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Joint laxity, Osteomyelitis, Overweight, Kyphosis, Obesity, Abnormal curvature of the ... OMIM:619475
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Williams-Beuren Syndrome
Hallux valgus, Kyphoscoliosis, Flexion contracture, Radioulnar synostosis, Clinodactyly of the 5t... OMIM:194050
Pallister-Killian Syndrome
Sacral dimple, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Kyphoscoliosis, Mesomelic... OMIM:601803
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Cryptorchidism, Platyspondyly... ORPHA:2273
Microphthalmia, Syndromic 1
Syndactyly, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Prominent fingertip p... OMIM:309800
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Cockayne Syndrome
Cachexia, Kyphosis, Cryptorchidism, Contractures of the large joints, Congenital contracture, Abn... ORPHA:191
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Immunodeficiency 82 With Systemic Inflammation
Arthritis, Osteomyelitis, Osteomalacia, Weight loss OMIM:619381
Viss Syndrome
Long toe, Joint laxity, Microretrognathia, Pes planus, Arachnodactyly, Rocker bottom foot, Joint ... OMIM:619472
Sotos Syndrome
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Pes planus, Craniosynostosis, Ankle flexi... ORPHA:821
Cockayne Syndrome Type 3
Kyphosis, Flexion contracture, Scoliosis ORPHA:90324
Lymphedema-Distichiasis Syndrome
Kyphosis, Micrognathia OMIM:153400
Autosomal Recessive Spastic Paraplegia Type 35
Ankle clonus, Kyphosis, Positional foot deformity ORPHA:171629
Branchiooculofacial Syndrome
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... OMIM:113620
Ring Chromosome 7 Syndrome
Small hand, Genu valgum, Lumbar kyphoscoliosis, Short 5th finger, Clinodactyly of the 5th finger,... ORPHA:1449
Pmm2-Cdg
Long fingers, Platyspondyly, Multiple joint contractures, Kyphoscoliosis ORPHA:79318
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis OMIM:619482
Alström Syndrome
Pes planus, Thoracic scoliosis, Testicular fibrosis, Kyphosis, Short toe, Hypoplasia of the Leydi... 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) Col12a1tm2a(KOMP)Wtsi PMC9597098

Order Mouse and ES Cells

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
Col12a1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col12a1tm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Col12a1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Col12a1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Col12a1tm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells

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