|
?:definition
|
-
An autosomal dominant condition caused by mutation(s) in the COL1A1 gene encoding the collagen alpha-1(I) chain. This disease is an acute inflammatory condition of infancy that causes soft tissue swelling (mostly of chin/cheeks), bone thickening/widening (particularly of the mandible/clavicles/long bones), pain, and irritability. This disease generally resolves by the 3rd year of life, although some bony deformity may persist.
|
![[This page as RDF]](https://research.tib.eu/covid-19/static/rdf-icon.gif){kind=icon}