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.

[citation needed] Mutations in different parts of the gene may lead to deafness or Stickler syndrome type III (myopia, retinal detachment and skeletal abnormalities).

[6] Most cases are caused by a de novo (new) mutation in the gene that occurs during the formation of the egg or sperm.

The COL11A2 gene is responsible for providing instructions on making one component of the type XI collagen.

[5] Type XI collagen is a complex molecule that helps give structure and strength to the connective tissues.

[7] Weissenbacher-Zweymüller syndrome is diagnosed upon a thorough clinical evaluation, detailed patient history, identification of characteristic symptom and a variety of specialized tests which includes x-rays.