Majewski's polydactyly syndrome

From Wikipedia, the free encyclopedia

This article is orphaned as few or no other articles link to it. Please help introduce links in articles on related topics. (November 2006)

The introduction to this article provides insufficient context for those unfamiliar with the subject. Please help improve the article with a good introductory style.

Majewski's polydactyly syndrome, also known as polydactyly with neonatal chondrodystrophy type I, short rib-polydactyly syndrome type I, and short rib-polydactyly syndrome, is a lethal form of neonatal dwarfism characterized by osteochondrodysplasia (skeletal abnormalities in the development of bone and cartilage) with a narrow thorax, polysyndactyly, disproportionately short tibiae, thorax dysplasia, hypoplastic lungs and respiratory insufficiency. Associated anomalies include protruding abdomen, brachydactyly, peculiar faces, hypoplastic epiglottis, cardiovascular defects , renal cysts, and also genital anomalies. Death occurs before or at birth.

The disease is inherited in an autosomal recessive pattern.

[edit] References

This article does not cite any references or sources. (January 2007) Please help improve this article by adding citations to reliable sources. Unverifiable material may be challenged and removed.