Ask An Expert: Rare Genetic Disorder

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Ask An Expert: Rare Genetic Disorder

Question:

Can you give me any information on Weill-Marchesani Syndrome?

Answer:

Weill-Marchesani syndrome is a very rare genetic disorder. It was first described in the 1930s. It has several other names, including congenital mesodermal dysmorphodystrophy and spherophakia-brachymorphia syndrome. There are at least two genetically distinct types of the syndrome whose gene mutations have been identified.

People with Weill-Marchesani syndrome are short, with a broad head, short fingers, and very distinctive eye abnormalities. The musculoskeletal features may also include well-developed muscles with a barrel-shaped chest. There is usually limited motion of the hands, fingers and wrists.

The eye abnormalities are usually the most disabling part of the disease. These include changes in the lens that make a person susceptible to lens dislocations. People often have visual impairment because of the lens abnormalities. The lens changes may also be complicated by cataract formation and glaucoma.

People with this syndrome may live a normal lifespan, and most have normal intelligence.

Treatment of Weill-Marchesani syndrome is mainly aimed at the eye abnormalities. People may need surgeries to try to maintain vision and control the pressure in the eyes.

Diana Post, M.D., is an assistant professor of medicine at Harvard Medical School and a member of the Department of Medicine at Brigham and Women's Hospital.

Last updated:	June 16, 2007