Weissenbacher–Zweymüller syndrome
| Weissenbacher–Zweymüller syndrome | |
|---|---|
| Classification and external resources | |
 Autosomal recessive inheritance |
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| OMIM | 277610 |
| DiseasesDB | 31966 |
Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia,[1] is an autosomal recessive[2] congenital 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.
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[edit] Characteristics
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
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 120290
- ^ a b 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:10.1002/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O. 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.
[edit] External links
- Pierre Robin syndrome with fetal chondrodysplasia; Weissenbacher-Zweymüller syndrome at NIH's Office of Rare Diseases
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