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Results 51 - 60 of 129 for Bone development disease
  1. Alpha-N-acetylgalactosaminidase deficiency 
    Alpha-N-acetylgalactosaminidase deficiency, also known as Schindler disease, is an inherited disorder that can affect the development of the nervous system. People with alpha-N- ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  2. Mainzer-Saldino syndrome 
    ... vision. Cilia also play a role in the development of the bones, although the mechanism is not well understood.The ... impairing the assembly of IFT-A and the development or maintenance of cilia. As ... bone abnormalities are called skeletal ciliopathies.While IFT140 gene ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Progressive pseudorheumatoid dysplasia 
    ... also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage ...
    https://medlineplus.gov/.../progressive-pseudorheumatoid-dysplasia - Genetics
  4. Yuan-Harel-Lupski syndrome 
    ... body processes, including the sleep-wake cycle and development of the brain and bones in the head and face (craniofacial bones). Research suggests that duplications involving this gene lead to higher-than-normal ... craniofacial development and the sleep-wake cycle. Excess RAI1 protein ...
    https://medlineplus.gov/.../condition/yuan-harel-lupski-syndrome - Genetics
  5. Cushing disease 
    ... producing (endocrine) system in the body that regulates development, metabolism, mood, and many other processes.Cushing disease occurs when a noncancerous (benign) tumor called an ...
    https://medlineplus.gov/genetics/condition/cushing-disease - Genetics
  6. Klippel-Trenaunay syndrome 
    ... Trenaunay syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red ...
    https://medlineplus.gov/.../condition/klippel-trenaunay-syndrome - Genetics
  7. Pseudoachondroplasia 
    ... makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  8. Metatropic dysplasia 
    ... that it plays a role in the normal development of cartilage and bone. This role would help explain why TRPV4 gene ...
    https://medlineplus.gov/genetics/condition/metatropic-dysplasia - Genetics
  9. Sandhoff disease 
    ... have distinctive facial features, enlarged organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood.The juvenile ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  10. Celiac disease 
    ... and changes in other genes, also influence the development of this complex disorder. HLA-DQA1 HLA-DQB1 Celiac disease tends to cluster in families. Parents, siblings, or ...
    https://medlineplus.gov/genetics/condition/celiac-disease - Genetics
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