Weissenbacher-Zweymuller syndrome

Weissenbacher-Zweymüller syndrome is a genetic disorder affecting bone growth.

Other Names

• WZS
• Pierre Robin Syndrome with Fetal Chondrodysplasia
• heterozygous otospondylomegaepiphyseal dysplasia (OSMED)

Causes

Mutations in the COL11A2 gene cause Weissenbacher-Zweymuller syndrome.

The COL11A2 gene is one of several genes that encode for type XI collagen. This type of collagen is important in the development of bones and types of connective tissue.

Signs and Symptoms

Weissenbacher-Zweymüller syndrome is characterized by:

• skeletal abnormalities (short dumbbell-shaped bones in infants' arms and legs; spinal issues)
• high-tone hearing loss
• distinctive facial features (wide-set, protruding eyes; a small, upturned nose with a flat bridge; and a small lower jaw; cleft palate in some cases)

Treatment

There is no cure nor standard treatment for Weissenbacher-Zweymüller syndrome.

Expected Outcome

The skeletal features of Weissenbacher-Zweymüller syndrome diminish during childhood. One of the striking features is "catch-up" growth that results in near-normal stature in adults with the condition.

History

The syndrome was originally described as "Pierre Robin syndrome with fetal chondrodysplasia" in 1964.^[1] The syndrome was established as a unique disease entity, with features that distinguish it from several related conditions, in 1992.^[2]

References

1. ↑ WEISSENBACHER G, ZWEYMUELLER E. [SIMULTANEOUS OCCURRANCE OF THE PIERRE ROBIN SYNDROME AND FETAL CHONDRODYSPLASIA.] Monatsschr Kinderheilkd. 1964 Jun;112:315-7. Abstract
2. ↑ Chemke J, Carmi R, Galil A, Bar-Ziv Y, Ben-Ytzhak I, Zurkowski L. Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia. Am J Med Genet. 1992 Aug 1;43(6):989-95.Abstract

External Links

• Genetics Home Reference
• Wrongdiagnosis.com
• OMIM @ Johns Hopkins