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Results 41 - 50 of 129 for Bone development disease
  1. Rothmund-Thomson syndrome 
    ... or osteoporosis). Some of these abnormalities affect the development of bones in the forearms and the thumbs, and are ...
    https://medlineplus.gov/genetics/condition/rothmund-thomson-syndrome - Genetics
  2. Holt-Oram syndrome 
    ... to play a critical role in regulating the development of bones in the arm and hand. Mutations in this gene probably disrupt the development of the heart and upper limbs, leading to ...
    https://medlineplus.gov/genetics/condition/holt-oram-syndrome - Genetics
  3. Ollier disease 
    ... in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature ... cancerous (malignant). In particular, affected individuals may develop bone ... People with Ollier disease also have an increased risk of other cancers, ...
    https://medlineplus.gov/genetics/condition/ollier-disease - Genetics
  4. Beare-Stevenson cutis gyrata syndrome 
    ... Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. ...
    https://medlineplus.gov/.../beare-stevenson-cutis-gyrata-syndrome - Genetics
  5. 5q minus syndrome 
    ... worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the ...
    https://medlineplus.gov/genetics/condition/5q-minus-syndrome - Genetics
  6. Crouzon syndrome 
    ... functions, this protein signals immature cells to become bone cells during embryonic development. Mutations in the FGFR2 gene are thought to result in production of an FGFR2 protein with overactive signaling, which causes the bones of the skull to fuse prematurely. FGFR2 This ...
    https://medlineplus.gov/genetics/condition/crouzon-syndrome - Genetics
  7. Apert syndrome 
    ... Deng CX. Roles of FGF signaling in skeletal development and human genetic diseases. Front Biosci. 2005 May 1;10:1961-76. ...
    https://medlineplus.gov/genetics/condition/apert-syndrome - Genetics
  8. Arterial tortuosity syndrome 
    ... TGF-β signaling pathway is also involved in bone and blood vessel development and the formation of the extracellular matrix, an ...
    https://medlineplus.gov/.../condition/arterial-tortuosity-syndrome - Genetics
  9. Cartilage-hair hypoplasia 
    ... arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. Most people with cartilage-hair hypoplasia are ...
    https://medlineplus.gov/genetics/condition/cartilage-hair-hypoplasia - Genetics
  10. Schwartz-Jampel syndrome 
    ... or function of this protein disrupts the normal development of cartilage and bone tissue, which underlies chondrodysplasia in affected individuals. A ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
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