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Results 1 - 10 of 35 for Contractures of the large joints
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  1. Larsen syndrome 
    ... people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (contractures) that restrict movement. People with Larsen syndrome can ...
    https://medlineplus.gov/genetics/condition/larsen-syndrome - Genetics
  2. Mucopolysaccharidosis type VI 
    ... features that are described as "coarse," and a large tongue (macroglossia). Other skeletal features include short stature, joint deformities (contractures) that affect mobility, and dysostosis multiplex, which refers ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  3. X-linked myotubular myopathy 
    ... an abnormal curvature of the spine (scoliosis), and joint deformities (contractures) of the hips and knees. People with X-linked myotubular myopathy may have a large head with a narrow and elongated face and ...
    https://medlineplus.gov/.../condition/x-linked-myotubular-myopathy - Genetics
  4. Weaver syndrome 
    ... include a broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a dimpled chin, and a small lower jaw (micrognathia).People with Weaver syndrome can also have joint deformities called contractures that restrict the movement of affected joints. The ...
    https://medlineplus.gov/genetics/condition/weaver-syndrome - Genetics
  5. Camurati-Engelmann disease 
    ... waddling or unsteady walk. Additional limb abnormalities include joint ... abnormally large head (macrocephaly) and lower jaw (mandible), a prominent ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
  6. UNC80 deficiency 
    ... abnormal curvature of the spine (scoliosis), permanently bent joints (contractures), and inward- and ... gene. This gene provides instructions for making a large protein that is part of the NALCN sodium ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  7. Kuskokwim syndrome 
    ... collagen matrix are involved in the development of joint contractures and other abnormalities in people with Kuskokwim syndrome. ...
    https://medlineplus.gov/genetics/condition/kuskokwim-syndrome - Genetics
  8. Distal arthrogryposis type 1 
    ... arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. ... distal arthrogryposis type 1. However, researchers speculate that contractures ... the movement of joints before birth.In some cases, the genetic cause ...
    https://medlineplus.gov/.../condition/distal-arthrogryposis-type-1 - Genetics
  9. PSMB8 gene 
    ... of Nakajo-Nishimura syndrome (described above): one called joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy ( ...
    https://medlineplus.gov/genetics/gene/psmb8 -
  10. LAMA2-related muscular dystrophy 
    ... time, they may develop rigidity of the back, joint contractures, scoliosis, and breathing problems. However, most affected individuals ...
    https://medlineplus.gov/.../lama2-related-muscular-dystrophy - Genetics
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