Weissenbacher-Zweymüller syndrome

Reviewed July 2008

What is Weissenbacher-Zweymüller syndrome?

Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. This condition has features that are similar to those of another skeletal disorder, otospondylomegaepiphyseal dysplasia (OSMED).

Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are shaped like dumbbells, and the bones of the spine (vertebrae) may also be abnormally shaped. High-tone hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small, upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate).

The skeletal features of Weissenbacher-Zweymüller syndrome tend to diminish during childhood. Most adults with this condition are not unusually short, but do still retain the other features of Weissenbacher-Zweymüller syndrome.

How common is Weissenbacher-Zweymüller syndrome?

Weissenbacher-Zweymüller syndrome is very rare; only a few families with the disorder have been reported worldwide.

What genes are related to Weissenbacher-Zweymüller syndrome?

Mutations in the COL11A2 gene cause Weissenbacher-Zweymüller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. At least one mutation in the COL11A2 gene is known to cause Weissenbacher-Zweymüller syndrome. This mutation disrupts the assembly of type XI collagen molecules, resulting in delayed bone development and the other features of this disorder.

Related Gene(s)

Changes in this gene are associated with Weissenbacher-Zweymüller syndrome.

COL11A2

How do people inherit Weissenbacher-Zweymüller syndrome?

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.

Where can I find information about diagnosis or management of Weissenbacher-Zweymüller syndrome?

These resources address the diagnosis or management of Weissenbacher-Zweymüller syndrome and may include treatment providers.

Genetic Testing Registry: Weissenbacher-Zweymuller syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1848488)

You might also find information on the diagnosis or management of Weissenbacher-Zweymüller syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Weissenbacher-Zweymüller syndrome?

You may find the following resources about Weissenbacher-Zweymüller syndrome helpful. These materials are written for the general public.

MedlinePlus - Health information
- Health Topic: Bone Diseases (http://www.nlm.nih.gov/medlineplus/bonediseases.html)
- Health Topic: Connective Tissue Disorders (http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html)
- Health Topic: Hearing Disorders and Deafness (http://www.nlm.nih.gov/medlineplus/hearingdisordersanddeafness.html)
Additional NIH Resources - National Institutes of Health
National Institute of Arthritis and Musculoskeletal and Skin Diseases (http://www.niams.nih.gov/Health_Info/Connective_Tissue/default.asp)
Educational resources - Information pages
- Nemours Foundation: Skeletal Dysplasia (http://www.nemours.org/service/medical/skeletaldysplasia.html?tab=about)
- Orphanet (http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=3450)
Patient support - For patients and families
- Cleft Palate Foundation (http://www.cleftline.org/)
- Human Growth Foundation (http://www.hgfound.org/)
- International Skeletal Dysplasia Registry, Cedars-Sinai Medical Center (http://isdr.csmc.edu/)
- My Baby's Hearing, Boys Town National Research Hospital (http://www.babyhearing.org/index.asp)
- National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1175/viewAbstract)
- Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/connect.html)

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Weissenbacher-Zweymuller syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1848488)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((weissenbacher-zweym%C3%BCller%20syndrome)%20OR%20(heterozygous%20otospondylomegaepiphyseal%20dysplasia)%20OR%20(pierre%20robin%20syndrome%20with%20fetal%20chondrodysplasia)%20OR%20(wzs)%20OR%20(heterozygous%20osmed)%20OR%20(weissenbacher%20zweymuller%20syndrome))%20AND%20((Collagen%20Diseases%5BMAJR%5D)%20OR%20(Congenital,%20Hereditary,%20and%20Neonatal%20Diseases%20and%20Abnormalities%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/277610)

What other names do people use for Weissenbacher-Zweymüller syndrome?

Heterozygous OSMED
Heterozygous otospondylomegaepiphyseal dysplasia
Pierre Robin syndrome with fetal chondrodysplasia
WZS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Weissenbacher-Zweymüller syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Weissenbacher-Zweymüller syndrome?

autosomal ; autosomal dominant ; cell ; cleft palate ; collagen ; dysplasia ; gene ; heterozygous ; mutation ; palate ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

Galil A, Carmi R, Goldstein E, Porter B, Bar Ziv J, Chemke J. Weissenbacher-Zweymuller syndrome: long-term follow-up of growth and psychomotor development. Dev Med Child Neurol. 1991 Dec;33(12):1104-9. (http://www.ncbi.nlm.nih.gov/pubmed/1723388?dopt=Abstract)
Pihlajamaa T, Prockop DJ, Faber J, Winterpacht A, Zabel B, Giedion A, Wiesbauer P, Spranger J, Ala-Kokko L. Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). Am J Med Genet. 1998 Nov 2;80(2):115-20. (http://www.ncbi.nlm.nih.gov/pubmed/9805126?dopt=Abstract)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.



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