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Disorder of bone
- ... identified in people with fibrochondrogenesis type 1, a disorder of bone growth characterized by severe skeletal abnormalities, hearing loss, ... collagen weakens connective tissues, impairing the formation of bones ... separate disorder. Most of the mutations associated with Marshall syndrome ...
- ... and the gastrointestinal tract.In people with this disorder, the bones of the lower spine (vertebrae) are misshapen or ... buttocks tend to be flat and dimpled. The bones of the legs are typically ... of this complex disorder.Some researchers believe that a disruption of fetal ...
- Buschke-Ollendorff syndrome is a hereditary disorder that primarily affects the skin and bones. Specifically, the condition is characterized by skin growths called connective tissue nevi and bone abnormalities, most commonly a pattern of increased bone ...
- ... mutations have been identified in people with a bone disorder called gnathodiaphyseal dysplasia, which leads to fragile bones, jaw problems, and other skeletal abnormalities. The ANO5 ...
- Lateral meningocele syndrome is a disorder that affects the nervous system, the bones and muscles, and other body systems. The condition is characterized by abnormalities known as lateral meningoceles. Lateral meningoceles are protrusions of ...
- Crouzon syndrome with acanthosis nigricans is a disorder characterized by the premature joining of certain bones of the skull (craniosynostosis) during development and a skin condition called acanthosis nigricans.The signs and symptoms of Crouzon syndrome with acanthosis nigricans ...
- ... mutations have been found in individuals with a bone disorder called Pyle disease. This condition is characterized by a bone abnormality in which the ends (metaphyses) of the ...
- ... throughout the body (called germline mutations) cause a bone disorder called osteopathia striata with cranial sclerosis. This condition ... almost exclusively in females because males with the disorder usually die ... bone growth (hyperostosis), which leads to multiple skeletal abnormalities ...
- ... this wide variety of signs and symptoms.Another bone disorder, known as familial digital arthropathy-brachydactyly, has also ...
- ... Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011 Mar 6;43(4):303-5. doi: 10.1038/ng.779. Citation on PubMed Zhao W, Petit E, Gafni RI, ... or Free article on PubMed Central
