Weissenbacher Zweymuller syndrome - Definition and Overview

Weissenbacher-Zweymuller syndrome is a 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. 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 Strickler syndrome type III (eye problems: myopia, retinal detachment and skeletal abnormalities).

Refernces

• Weissenbacher G, Zweymuller E. Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie. Mschr Kinderheilk 1964;112:315-7. PMID 14234962.

External link

• OMIM 277610 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=277610) and OMIM 120290 (http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=120290)