From Wikipedia, the free encyclopedia
Weissenbacher-Zweymuller syndrome is a genetic disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α2 strand of collagen type XI. It is a collagenopathy, types II and XI disorder.
Presentation It causes facial abnormalities, skeletal malformation and occasionally neural tube defects; the skeletal disfigurements resolve to a degree in the course of development. Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).
Eponym It was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.
This article is based on an article from Wikipedia, the free encyclopedia and is available under the terms of GNU Free Documentation License.
In the Wikipedia there is a list with all authors of this article available.