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Results 1 - 10 of 77 for Abnormality of the skeletal system
  1. RMRP gene 
    ... cells. Impaired RNase MRP enzyme complex causes dwarfism, skeletal abnormalities, abnormal immune system function (immune deficiency), elevated cancer risk, sparse hair ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  2. Congenital contractural arachnodactyly 
    ... congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form ...
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly - Genetics
  3. Jacobsen syndrome 
    ... short stature; frequent ear and sinus infections; and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  4. Cartilage-hair hypoplasia 
    ... growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  5. Alpha thalassemia X-linked intellectual disability syndrome 
    ... unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  6. Spondyloenchondrodysplasia with immune dysregulation 
    ... with SPENCDI, increased bone remodeling contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders and ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
  7. Mucopolysaccharidosis type VI 
    ... The features of MPS VI affect many bodily systems, including skeletal, cardiac, and respiratory.MPS VI causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-vi - Genetics
  8. Simpson-Golabi-Behmel syndrome 
    ... kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this ...
    https://medlineplus.gov/.../condition/simpson-golabi-behmel-syndrome - Genetics
  9. ACP5 gene 
    ... with SPENCDI, increased bone breakdown contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders, which ...
    https://medlineplus.gov/genetics/gene/acp5 - Genetics
  10. TRPV4 gene 
    ... TRPV4 channel activity result in the particular skeletal abnormalities associated with ... skeletal disorders associated with TRPV4 gene mutations include autosomal ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
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