Weissenbacher-Zweymüller syndrome
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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 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). It is a collagenopathy, types II and XI disorder.
[edit] References
- Weissenbacher G, Zweymuller E. Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie. Mschr Kinderheilk 1964;112:315-7. PMID 14234962.
[edit] External link
- Mendelian Inheritance in Man (OMIM) 277610 and Mendelian Inheritance in Man (OMIM) 120290
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