Weissenbacher–Zweymüller syndrome
| Weissenbacher–Zweymüller syndrome | |
|---|---|
Autosomal recessive inheritance
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 277610 |
| DiseasesDB | 31966 |
| Patient UK | Weissenbacher–Zweymüller syndrome |
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.
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).
Eponym
It was first characterized in 1964 by G. Weissenbacher and Ernst Zweymüller.[3][4]
References
- ↑ 1.0 1.1 Online 'Mendelian Inheritance in Man' (OMIM) 120290
- ↑ 2.0 2.1 Lua error in package.lua at line 80: module 'strict' not found.
- ↑ synd/1776 at Who Named It?
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
External links
- Pierre Robin syndrome with fetal chondrodysplasia; Weissenbacher-Zweymüller syndrome at NIH's Office of Rare Diseases
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