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Results 1 - 10 of 113 for Skeleton
  1. Campomelic dysplasia 
    ... a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. ... those that are important for development of the skeleton and reproductive organs.Most cases of campomelic dysplasia ...
    https://medlineplus.gov/genetics/condition/campomelic-dysplasia - Genetics
  2. Multiple sulfatase deficiency 
    ... condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase ... of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and ...
    https://medlineplus.gov/.../condition/multiple-sulfatase-deficiency - Genetics
  3. Robinow syndrome 
    ... of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished ... a critical role in the formation of the skeleton, heart, and genitals. Mutations in the ROR2 gene ...
    https://medlineplus.gov/genetics/condition/robinow-syndrome - Genetics
  4. Fibrodysplasia ossificans progressiva 
    ... replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that limits movement. ... ossificans progressiva: a druggable target for the second skeleton. Expert Opin Biol Ther. 2007 May;7(5): ...
    https://medlineplus.gov/.../fibrodysplasia-ossificans-progressiva - Genetics
  5. Focal dermal hypoplasia 
    ... a genetic disorder that primarily affects the skin, skeleton, eyes, and face. About 90 percent of affected ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
  6. Mucopolysaccharidosis type IV 
    ... is a progressive condition that mainly affects the skeleton. The rate at which symptoms worsen varies among ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iv - Genetics
  7. SADDAN 
    ... Severe achondroplasia with developmental delay and acanthosis nigricans Skeleton-skin-brain syndrome SSB syndrome Genetic Testing Registry: ...
    https://medlineplus.gov/genetics/condition/saddan - Genetics
  8. Progressive osseous heteroplasia 
    ... and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In progressive ... preventing bony tissue from being produced outside the skeleton.The GNAS gene mutations that cause progressive osseous ...
    https://medlineplus.gov/.../progressive-osseous-heteroplasia - Genetics
  9. FGFR3 gene 
    ... flexible tissue that makes up much of the skeleton during early development. The process of converting cartilage ... results in abnormal formation of the ears, the skeleton, and the glands in the eyes and mouth ...
    https://medlineplus.gov/genetics/gene/fgfr3 - Genetics
  10. Camurati-Engelmann disease 
    ... particularly abundant in tissues that make up the skeleton, where it helps regulate the formation and growth ... flexible tissue that makes up much of the skeleton during early development. TGFβ-1 is involved in ...
    https://medlineplus.gov/.../condition/camurati-engelmann-disease - Genetics
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