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Weissenbacher-Zweymüller Syndrome

Weissenbacher-Zweymüller syndrome OMIM information

Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. Some of its characteristics are distinctive facial features, hearing loss, and skeletal abnormalities. Otospondylomegaepiphyseal dysplasia (OSMED) is another condition that has similar features. Infants with Weissenbacher-Zweyüller are shorter than average children, their thigh and upper arm bones are shaped like dumbbells and their vertebrae could also be abnormally shaped. Features in the skeleton tend to decrease as infants affected by this syndrome grow. When children with Weissenbacher-Zweymüller reach adulthood, their height isn't unusually short but the other features are still present.

The original name for this syndrome was Pierre Robin Syndrome with fetal chondrodysplasia. This syndrome has more skeletal effects compared to Stickler’s syndrome. It also lacks the joint and eye problems and is recessive, rather than dominant.

Genes

A mutation in the COL11A2 gene is what causes Weissenbacher-Zweymüller syndrome to be present. This gene is responsible for the production of XI collagen, which is very important for normal development of bones and connective tissues that form the body’s supportive framework.

COL11A2 Gene

PBB GE COL11A2 213870 at fs

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6.

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.