Spinal Muscular Atrophy, Ryukyuan Type |
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Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy |
OMIM:271200 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
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Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Osteomesopyknosis |
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Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Osteochondrosis Of The Metatarsal Bone |
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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 |
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Tremor, Distal amyotrophy, Kyphoscoliosis |
OMIM:619099 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
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Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... |
OMIM:616668 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Congenital Myopathy 23 |
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Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
Brachyolmia Type 1, Hobaek Type |
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Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Gnathodiaphyseal Dysplasia |
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Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... |
ORPHA:53697 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Nemaline Myopathy 7 |
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Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... |
OMIM:610687 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Eiken Syndrome |
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Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Metatropic Dysplasia |
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Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... |
ORPHA:2635 |
Pyle Disease |
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Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
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Abnormality of the knee, Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
Roussy-Lévy Syndrome |
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Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu val... |
ORPHA:3115 |
Hyperostosis Corticalis Generalisata |
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Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Melorheostosis With Osteopoikilosis |
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Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Sclerosteosis |
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Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Congenital Muscular Dystrophy Without Intellectual Disability |
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Reduced muscle fiber alpha dystroglycan, Kyphoscoliosis, Fatty replacement of skeletal muscle, Ac... |
ORPHA:370980 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Upper limb postural tremor, Kyphoscoliosis, Hammertoe, Distal amyotrophy, Action tremor |
OMIM:180800 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Metaphyseal Chondrodysplasia, Schmid Type |
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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 |
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Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Ck Syndrome |
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Slender build, Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morpholog... |
OMIM:300831 |
Autosomal Dominant Brachyolmia |
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Increased vertebral height, Platyspondyly, Abnormal metaphysis morphology, Kyphoscoliosis |
ORPHA:93304 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
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Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... |
ORPHA:496689 |
Parastremmatic Dwarfism |
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Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
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Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... |
OMIM:618484 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
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Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... |
OMIM:607855 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Upper limb muscle weakness, Distal amyotrophy, Kyphoscoliosis, Foot dorsiflexor weakness |
OMIM:605588 |
Spondyloepiphyseal Dysplasia Congenita |
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Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Abnorm... |
ORPHA:94068 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal... |
OMIM:618392 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
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Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Skeletal muscle hype... |
OMIM:255710 |
Fibular Hemimelia |
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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 |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
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Osteopenia, Dense metaphyseal bands, Small for gestational age, Slender long bones with narrow di... |
ORPHA:50811 |
Pseudoachondroplasia |
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Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Winchester Syndrome |
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Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Central Core Disease |
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Multiple joint contractures, Kyphoscoliosis, Myopathy, Talipes equinovarus, Type 1 muscle fiber p... |
ORPHA:597 |
Ullrich Congenital Muscular Dystrophy 2 |
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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 |
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Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Kyphoscoliosis, Coxa valga, Vertebral wedging, Platyspondyly, Internal tibial torsion, Beaking of... |
OMIM:616583 |
Charcot-Marie-Tooth Disease, Type 4K |
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Skeletal muscle atrophy, Kyphoscoliosis, Dystonia |
OMIM:616684 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, S... |
OMIM:619638 |
Paget Disease Of Bone 2, Early-Onset |
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Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
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Distal amyotrophy, Split hand, Talipes equinovarus, Kyphoscoliosis |
OMIM:607831 |
Epiphyseal Dysplasia, Multiple, 1 |
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Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
Metatropic Dysplasia |
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Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Ataxia-Oculomotor Apraxia Type 4 |
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Progressive distal muscular atrophy, Kyphoscoliosis, Abnormal toe morphology, Muscular dystrophy,... |
ORPHA:459033 |
Epiphyseal Dysplasia, Multiple, 7 |
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Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Vertebra... |
OMIM:617719 |
Charcot-Marie-Tooth Disease Type 1A |
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Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis |
ORPHA:101081 |
Charcot-Marie-Tooth Disease Type 4D |
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Postural tremor, Kyphoscoliosis, Split hand, Upper limb amyotrophy, Hammertoe, Distal lower limb ... |
ORPHA:99950 |
Lethal Congenital Contracture Syndrome Type 1 |
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Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal form of the... |
ORPHA:1486 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
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Decreased muscle mass, Broad hallux, Kyphoscoliosis, Atlantoaxial abnormality, Broad thumb |
ORPHA:3433 |
Brachyolmia Type 1, Toledo Type |
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Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Sq... |
OMIM:271630 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
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Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Ulnar claw, Limb muscle weakness, Foot ... |
OMIM:118220 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Spondyloepiphyseal Dysplasia Tarda |
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Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex vertebral body... |
OMIM:184255 |
Diastrophic Dysplasia |
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Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
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Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Parkinson-Dementia Syndrome |
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Tremor, Kyphoscoliosis |
OMIM:260540 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
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Syndactyly, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Talipes equinovarus, Ulnar claw, Foot d... |
OMIM:604563 |
Familial Expansile Osteolysis |
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Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
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Kyphoscoliosis, Split hand, Distal amyotrophy, Hammertoe, Ulnar claw, Limb muscle weakness, Foot ... |
OMIM:118200 |
Myopathic Ehlers-Danlos Syndrome |
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Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Osteogenesis Imperfecta, Type X |
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Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ... |
OMIM:613848 |
Maternal Uniparental Disomy Of Chromosome 9 |
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Short neck, Abnormal vertebral morphology, Kyphoscoliosis, Hamstring contractures |
ORPHA:96183 |
Pseudoachondroplasia |
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Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,... |
OMIM:616897 |
Caffey Disease |
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Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Scoliosi... |
ORPHA:1310 |
Achondroplasia |
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Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Femoral-Facial Syndrome |
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Short femur, Micrognathia, Cryptorchidism, Abnormal sacrum morphology, Coxa vara, Abnormal fibula... |
ORPHA:1988 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Distal lower limb amyotrophy, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Hyperekplexia 4 |
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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 |
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Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Genu valgum, Irreg... |
OMIM:609223 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Bruck Syndrome 1 |
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Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Bethlem Myopathy 2 |
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Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... |
OMIM:616471 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
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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 |
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Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, V... |
OMIM:617952 |
Thanatophoric Dysplasia Type 1 |
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Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Cranio-Osteoarthropathy |
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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 |
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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 |
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Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Tibial Aplasia-Ectrodactyly Syndrome |
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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 |
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Rocker bottom foot, Kyphoscoliosis, Coxa valga, Flexion contracture, Elbow flexion contracture, K... |
OMIM:214150 |
Lenz-Majewski Hyperostotic Dwarfism |
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Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... |
ORPHA:2658 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
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Kyphosis, Hip dysplasia, Failure to thrive |
OMIM:620007 |
Joint Laxity, Short Stature, And Myopia |
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Talipes equinovarus, Cervical kyphosis, Kyphoscoliosis |
OMIM:617662 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
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Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ... |
OMIM:618291 |
Basilar Impression, Primary |
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Limb muscle weakness, Kyphoscoliosis, Short neck |
OMIM:109500 |
Hypophosphatemic Bone Disease |
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Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Long toe, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Flexion contracture |
ORPHA:75496 |
Spondyloepiphyseal Dysplasia Congenita |
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Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Frank-Ter Haar Syndrome |
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Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M... |
OMIM:249420 |
Alpha-Mannosidosis |
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Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Arthritis, Hip dysplas... |
ORPHA:61 |
X-Linked Hypophosphatemia |
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Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Autosomal Recessive Spastic Paraplegia Type 53 |
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Kyphosis, Failure to thrive, Joint hyperflexibility |
ORPHA:319199 |
Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Generalized joint la... |
ORPHA:536471 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Long fi... |
OMIM:309583 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Arachnodactyly, Oste... |
ORPHA:536467 |
Osteogenesis Imperfecta |
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Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contr... |
ORPHA:666 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
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Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Abnormal vertebral mor... |
OMIM:616817 |
Mucopolysaccharidosis, Type Ivb |
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Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Hyp... |
OMIM:253010 |
13Q12.3 Microdeletion Syndrome |
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Kyphoscoliosis, Hemihypotrophy of lower limb, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... |
ORPHA:98855 |
Ullrich Congenital Muscular Dystrophy 1 |
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Torticollis, Reduced muscle collagen VI, Facial palsy, Increased laxity of fingers, Spinal rigidi... |
OMIM:254090 |
Seckel Syndrome 8 |
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Kyphoscoliosis |
OMIM:615807 |
Warburg Micro Syndrome 1 |
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Overlapping toe, Kyphoscoliosis |
OMIM:600118 |
Spondyloocular Syndrome |
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Osteopenia, Long toe, Pes planus, Arachnodactyly, Femur fracture, Overlapping toe, Unilateral cry... |
OMIM:605822 |
Paternal Uniparental Disomy Of Chromosome 5 |
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Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis |
ORPHA:96190 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Tremor, Resting tremor, Kyphoscoliosis |
ORPHA:3077 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Czech Dysplasia |
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Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Masa Syndrome |
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Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb |
OMIM:303350 |
Schaaf-Yang Syndrome |
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Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexi... |
OMIM:615547 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Autosomal Recessive Spastic Paraplegia Type 77 |
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Paroxysmal dystonia, Kyphoscoliosis, Dystonia, Lower limb amyotrophy, Intention tremor |
ORPHA:466722 |
Oculodentodigital Dysplasia |
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Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Proximal m... |
ORPHA:99956 |
Hypophosphatasia, Adult |
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Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... |
OMIM:146300 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Kyphosis, Decreased testicular size, Joint hyperflexibility |
ORPHA:1875 |
Arthrogryposis, Distal, Type 2A |
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Hip contracture, Flexion contracture of finger, Shoulder flexion contracture, Kyphoscoliosis, Sho... |
OMIM:193700 |
Campomelic Dysplasia |
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Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Developmental And Epileptic Encephalopathy 41 |
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Flexion contracture, Kyphoscoliosis |
OMIM:617105 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... |
OMIM:128100 |
Autosomal Recessive Spastic Paraplegia Type 9B |
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Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis |
ORPHA:447760 |
Infantile Systemic Hyalinosis |
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Osteopenia, Osteomalacia, Micromelia, Short neck, Camptodactyly of finger, Recurrent fractures, J... |
ORPHA:2176 |
Bent Bone Dysplasia Syndrome 2 |
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Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,... |
OMIM:620076 |
Faciocardiomelic Syndrome |
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Osteopenia, Large for gestational age, Micrognathia, Cuboid-shaped vertebral bodies, Slender long... |
OMIM:612731 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
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Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Cryptorchidism, Metaphyseal widening, Hip d... |
OMIM:620083 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Kyphoscoliosis |
OMIM:300886 |
Otopalatodigital Syndrome, Type I |
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Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Flynn-Aird Syndrome |
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Cachexia, Joint stiffness, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Exaggerated startle response, Kyphosis, Flexion contracture, Distal amyotrophy, Scoliosis |
OMIM:609541 |
Multiple Osteochondromas |
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Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Acromesomelic Dysplasia 1 |
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Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Short neck, Hyperlordosis, ... |
ORPHA:98863 |
Congenital Contractural Arachnodactyly |
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Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Flexion contracture, Congenit... |
ORPHA:115 |
Osteogenesis Imperfecta, Type Xvii |
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Decreased muscle mass, Bowed humerus, Kyphoscoliosis, Platyspondyly, Vertebral compression fractu... |
OMIM:616507 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
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Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb |
ORPHA:2181 |
Three M Syndrome 3 |
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Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Slender long bo... |
OMIM:614205 |
Dysostosis, Stanescu Type |
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Increased bone mineral density, Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, ... |
ORPHA:1798 |
Spondylometaphyseal Dysplasia, Algerian Type |
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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 |
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Joint laxity, Short humerus, Short metacarpal, Short femur, Short neck, Micrognathia, Cryptorchid... |
OMIM:616145 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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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 |
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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 |
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Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Osteoporosis, Knee osteoarthritis, Coxa... |
ORPHA:2848 |
Cerebrooculofacioskeletal Syndrome 2 |
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Rocker bottom foot, Camptodactyly of finger, Kyphoscoliosis |
OMIM:610756 |
Marshall-Smith Syndrome |
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Bowing of the long bones, Craniosynostosis, Reduced bone mineral density, Increased susceptibilit... |
ORPHA:561 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
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Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
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Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Three M Syndrome 1 |
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Pes planus, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Hip... |
OMIM:273750 |
Crisponi Syndrome |
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Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... |
ORPHA:1545 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
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Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, ... |
OMIM:271510 |
Fountain Syndrome |
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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 |
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Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Hyperlordosis, Spinal rigid... |
ORPHA:98853 |
Holt-Oram Syndrome |
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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 |
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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 |
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Kyphosis, 2-3 toe syndactyly, Scoliosis |
OMIM:616449 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Kyphoscoliosis, Short neck, Tapered finger, Genu valgum, Macroglossia, Lower limb hypertonia, Tal... |
OMIM:309580 |
Proteus Syndrome |
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Hallux valgus, Finger syndactyly, Macroorchidism, Macrodactyly, Craniosynostosis, Metatarsus valg... |
ORPHA:744 |
Fucosidosis |
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Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Cowden Syndrome |
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Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Failure to thrive, Brachydactyly |
ORPHA:201 |
Autosomal Recessive Ataxia, Beauce Type |
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Ankle clonus, Kyphosis, Pes cavus, Scoliosis |
ORPHA:88644 |
Pontocerebellar Hypoplasia, Type 17 |
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Microretrognathia, Kyphosis |
OMIM:619909 |
15Q14 Microdeletion Syndrome |
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Kyphosis, Scoliosis |
ORPHA:261190 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
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Kyphosis, Clinodactyly, Radial deviation of finger, Micrognathia |
OMIM:609944 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... |
OMIM:618223 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
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Kyphosis, Scoliosis |
ORPHA:261144 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Tapered fin... |
OMIM:303600 |
Restrictive Dermopathy 1 |
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Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Flexion contracture, Osteolytic defec... |
OMIM:275210 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Osteomalacia |
OMIM:600740 |
Cowden Syndrome 5 |
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Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Scoliosis |
OMIM:615108 |
Cystinosis, Nephropathic |
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Failure to thrive in infancy, Metaphyseal widening, Rickets, Genu valgum, Weight loss, Hypophosph... |
OMIM:219800 |
Infantile Nephropathic Cystinosis |
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Failure to thrive, Rickets |
ORPHA:411629 |
17Q11 Microdeletion Syndrome |
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Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... |
ORPHA:97685 |
Cockayne Syndrome A |
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Hip contracture, Kyphosis, Cryptorchidism, Limitation of joint mobility, Ivory epiphyses of the p... |
OMIM:216400 |
Genitourinary And/Or Brain Malformation Syndrome |
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Syndactyly, Kyphoscoliosis |
OMIM:618820 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Kyphoscoliosis, Hyperlordosis, Abnormal tibia morphology, Genu valgum, Large hands, Scoliosis |
ORPHA:363700 |
Cowden Syndrome 6 |
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Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Scoliosis |
OMIM:615109 |
Neurofibromatosis Type 1 |
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Recurrent fractures, Joint stiffness, Kyphosis, Cryptorchidism, Genu valgum, Slender long bone, A... |
ORPHA:636 |
Smith-Lemli-Opitz Syndrome |
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Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Cryptorchidism, Kyphosis,... |
ORPHA:818 |
Primary Fanconi Renotubular Syndrome |
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Hypophosphatemic rickets, Weight loss, Osteomalacia, Increased susceptibility to fractures |
ORPHA:3337 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
Floating-Harbor Syndrome |
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Short metacarpal, Brachydactyly, Kyphoscoliosis, Short neck, Avascular necrosis of the capital fe... |
ORPHA:2044 |
Wilson Disease |
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Osteomalacia, Osteoarthritis, Osteoporosis, Pedal edema, Joint hypermobility |
OMIM:277900 |
Triosephosphate Isomerase Deficiency |
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Kyphosis, Failure to thrive, Death in adolescence, Death in infancy |
OMIM:615512 |
Williams Syndrome |
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Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Aspartylglucosaminuria |
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Joint laxity, Kyphosis, Hypoplastic frontal sinuses, Platyspondyly, Spondylolysis, Scoliosis, Mac... |
OMIM:208400 |
Postencephalitic Parkinsonism |
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Kyphosis, Camptocormia |
ORPHA:97349 |
Coffin-Siris Syndrome 1 |
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Joint laxity, Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of... |
OMIM:135900 |
Rett Syndrome, Congenital Variant |
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Pes planus, Kyphosis, Talipes equinovarus, Scoliosis |
OMIM:613454 |
1P36 Deletion Syndrome |
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11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Kyphosis, Crypt... |
ORPHA:1606 |
Generalized Arterial Calcification Of Infancy |
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Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ... |
ORPHA:51608 |
Cowden Syndrome 1 |
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Micrognathia, Kyphosis, Palmoplantar hyperkeratosis, Hydrocele testis, Scoliosis |
OMIM:158350 |
Noonan Syndrome 1 |
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Kyphoscoliosis, Short neck, Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:163950 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Absent thumb, Hemivertebrae |
ORPHA:500150 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
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Kyphosis, Cryptorchidism |
OMIM:619244 |
Atelis Syndrome 2 |
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Pes planus, Sacral dimple, Micrognathia, Kyphosis, Clinodactyly |
OMIM:620185 |
Ramon Syndrome |
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Kyphosis, Juvenile rheumatoid arthritis, Scoliosis, Decreased body weight |
OMIM:266270 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Tapered fi... |
ORPHA:268261 |
Acromegaly |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... |
ORPHA:963 |
Somatomammotropinoma |
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Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas... |
ORPHA:314769 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Back pain, Joint laxity, Osteomyelitis, Overweight, Kyphosis, Obesity, Abnormal curvature of the ... |
OMIM:619475 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis |
OMIM:300942 |
Williams-Beuren Syndrome |
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Hallux valgus, Kyphoscoliosis, Flexion contracture, Radioulnar synostosis, Clinodactyly of the 5t... |
OMIM:194050 |
Pallister-Killian Syndrome |
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Sacral dimple, Rhizomelia, Congenital diaphragmatic hernia, Short neck, Kyphoscoliosis, Mesomelic... |
OMIM:601803 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Abnormal pelvis bone morphology, Camptodactyly of finger, Kyphosis, Cryptorchidism, Platyspondyly... |
ORPHA:2273 |
Microphthalmia, Syndromic 1 |
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Syndactyly, Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Prominent fingertip p... |
OMIM:309800 |
Shprintzen Omphalocele Syndrome |
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Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Cockayne Syndrome |
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Cachexia, Kyphosis, Cryptorchidism, Contractures of the large joints, Congenital contracture, Abn... |
ORPHA:191 |
Familial Hypocalciuric Hypercalcemia |
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Osteomalacia |
ORPHA:405 |
Immunodeficiency 82 With Systemic Inflammation |
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Arthritis, Osteomyelitis, Osteomalacia, Weight loss |
OMIM:619381 |
Viss Syndrome |
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Long toe, Joint laxity, Microretrognathia, Pes planus, Arachnodactyly, Rocker bottom foot, Joint ... |
OMIM:619472 |
Sotos Syndrome |
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Joint laxity, Sacrococcygeal teratoma, Hip contracture, Pes planus, Craniosynostosis, Ankle flexi... |
ORPHA:821 |
Cockayne Syndrome Type 3 |
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Kyphosis, Flexion contracture, Scoliosis |
ORPHA:90324 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Micrognathia |
OMIM:153400 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Ankle clonus, Kyphosis, Positional foot deformity |
ORPHA:171629 |
Branchiooculofacial Syndrome |
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Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... |
OMIM:113620 |
Ring Chromosome 7 Syndrome |
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Small hand, Genu valgum, Lumbar kyphoscoliosis, Short 5th finger, Clinodactyly of the 5th finger,... |
ORPHA:1449 |
Pmm2-Cdg |
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Long fingers, Platyspondyly, Multiple joint contractures, Kyphoscoliosis |
ORPHA:79318 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Alström Syndrome |
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Pes planus, Thoracic scoliosis, Testicular fibrosis, Kyphosis, Short toe, Hypoplasia of the Leydi... |
ORPHA:64 |