Weissenbacher-Zweymüller syndrome
| Weissenbacher-Zweymüller syndrome | |
| File:Autorecessive.svg | |
|---|---|
| Autosomal recessive inheritance | |
| OMIM | 277610 |
| DiseasesDB | 31966 |
Overview
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.
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.[3][4]
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:10.1002/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O. PMID 9805126.
- ↑ Template:WhoNamedIt
- ↑ Weissenbacher G, Zweymuller E (1964). "[Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.]". Monatsschrift für Kinderheilkunde (in German). 112: 315–7. PMID 14234962.