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Results 91 - 100 of 129 for Bone development disease
  1. SATB2-associated syndrome 
    ... palate, teeth anomalies, behavioral issues with or without bone or brain ... or absent. Development of motor skills, such as rolling over, sitting, ...
    https://medlineplus.gov/genetics/condition/satb2-associated-syndrome - Genetics
  2. Tuberous sclerosis complex 
    ... or TSC2 gene that occurs very early in development. As a result, some of the body's cells have a normal version of the ... sclerosis ...
    https://medlineplus.gov/.../condition/tuberous-sclerosis-complex - Genetics
  3. Swyer syndrome 
    ... improved genetic diagnosis of human differences of sex development. Nat Rev Genet. 2021 Sep;22(9):588-602. doi: 10.1038/s41576-021-00365-5. Epub 2021 Jun 3. Citation on PubMed El-Khairi R, Achermann JC. Steroidogenic factor-1 and human disease. Semin Reprod Med. 2012 Oct;30(5):374- ...
    https://medlineplus.gov/genetics/condition/swyer-syndrome - Genetics
  4. 48,XXYY syndrome 
    ... pes planus), elbow abnormalities, abnormal fusion of certain bones in the ... vascular disease. Peripheral vascular disease can cause skin ulcers to ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  5. Familial isolated pituitary adenoma 
    ... still growing. In adults, growth of the long bones has stopped, but the tumors ... disease), thyrotropinomas, and gonadotropinomas. In a family with the ...
    https://medlineplus.gov/.../familial-isolated-pituitary-adenoma - Genetics
  6. Hereditary sensory and autonomic neuropathy type V 
    ... a condition called Charcot joints, in which the bones and tissue surrounding joints are destroyed. ... (NGFβ) that is important in the development and survival of nerve cells (neurons), including sensory ...
    https://medlineplus.gov/...y-sensory-and-autonomic-neuropathy-type-v - Genetics
  7. Neuroblastoma 
    ... familial neuroblastoma, indicating it is involved in neuroblastoma development ... with the severity of the disease but not thought to cause it. About 25 ...
    https://medlineplus.gov/genetics/condition/neuroblastoma - Genetics
  8. Mabry syndrome 
    ... Another common feature of Mabry syndrome is shortened bones at the ends of fingers ... disease, a disorder that causes severe constipation or blockage ...
    https://medlineplus.gov/genetics/condition/mabry-syndrome - Genetics
  9. Langerhans cell histiocytosis 
    ... infections and environmental toxins, may also influence the development of this complex disorder. ... granulomatosis LCH Genetic Testing ...
    https://medlineplus.gov/.../condition/langerhans-cell-histiocytosis - Genetics
  10. Prolidase deficiency 
    ... Some individuals with prolidase deficiency have chronic lung ... delayed development, and about 75 percent of people with prolidase ...
    https://medlineplus.gov/genetics/condition/prolidase-deficiency - Genetics
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