Weissenbacher-Zweymüller syndrome
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| Weissenbacher-Zweymüller syndrome Classification and external resources |
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| Autosomal recessive inheritance | |
| OMIM | 277610 |
| DiseasesDB | 31966 |
Weissenbacher-Zweymuller syndrome is an autosomal recessive 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][2]
It is a collagenopathy, types II and XI disorder.
[edit] 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).
[edit] Eponym
It was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.[3][4]
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 120290
- ^ Pihlajamaa T, Prockop DJ, Faber J, et al (1998). "Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)". Am. J. Med. Genet. 80 (2): 115–20. doi:. PMID 9805126.
- ^ synd/1776 at Who Named It
- ^ Weissenbacher G, Zweymuller E (1964). "[Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.]" (in German). Monatsschrift für Kinderheilkunde 112: 315-7. PMID 14234962.
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