Weissenbacher-Zweymüller syndrome
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(Redirected from Weissenbacher Zweymuller syndrome)
| Weissenbacher-Zweymüller syndrome Classification and external resources | |
| OMIM | 277610 |
|---|---|
| DiseasesDB | 31966 |
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. [1][1]
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.[1][1]
References
