Weissenbacher-Zweymüller syndrome

Infobox_Disease
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Caption = Autosomal recessive inheritance
DiseasesDB = 31966
ICD10 =
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OMIM = 277610
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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. [OMIM|120290] cite journal |author=Pihlajamaa T, Prockop DJ, Faber J, "et al" |title=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) |journal=Am. J. Med. Genet. |volume=80 |issue=2 |pages=115–20 |year=1998 |pmid=9805126|doi=10.1002/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O]

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. [WhoNamedIt|synd|1776] [cite journal |author=Weissenbacher G, Zweymuller E |title= [Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.] |language=German |journal=Monatsschrift für Kinderheilkunde |volume=112 |issue= |pages=315–7 |year=1964 |pmid=14234962 |doi=]

References

External Links

*RareDiseases|4351|Pierre Robin syndrome with fetal chondrodysplasia; Weissenbacher-Zweymüller syndrome