From Surf Wiki (app.surf) — the open knowledge base

Weill–Marchesani syndrome

Rare generic disorder

Field	Value
name	Weill–Marchesani syndrome
synonyms	Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, GEMSS syndrome
image	Marchesani2.gif
alt	Image of a six-year-old female with Weill-Marchesani syndrome.
caption	A six-year-old girl with Weill-Marchesani syndrome, which has caused a dislocated lens.
field	Ophthalmology, rheumatology, medical genetics

Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head (brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers (brachydactyly); and distinctive eye (ocular) abnormalities. It was named after ophthalmologists Georges Weill (1866–1952) and Oswald Marchesani (1900–1952) who first described it in 1932 and 1939, respectively.

The eye manifestations typically include unusually small, round lenses of the eyes (microspherophakia), which may be prone to dislocating (ectopia lentis), as well as other ocular defects. Due to such abnormalities, affected individuals may have varying degrees of visual impairment, ranging from nearsightedness myopia to blindness. Weill–Marchesani syndrome may have autosomal recessive inheritance involving the ADAMTS10 gene, or autosomal dominant inheritance involving the FBN1 gene. In some cases there is no association with either of these genes.

Diagnosis

A lens dislocation caused by Weill-Marchesani syndrome

Diagnosis is made when several characteristic clinical signs are observed. There is no single test to confirm the presence of Weill–Marchesani syndrome. Exploring family history or examining other family members may prove helpful in confirming this diagnosis.

Treatment

Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.

Prognosis

However, long term medical management of glaucoma has not proven to be successful for patients with Weill–Marchesani syndrome. Physical therapy and orthopedic treatments are generally prescribed for problems stemming from mobility from this connective tissue disorder. However, this disorder has no cure, and generally, treatments are given to improve quality of life.

References

"Weill-Marchesani syndrome: MedlinePlus Genetics".
(2005). "Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome". J Pediatr Ophthalmol Strabismus.
Anderson, Charles. (2002). "NORD Guide to Rare Disorders". Lippincott Williams & Wilkins.

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

cytoskeletal-defects syndromes eye-diseases rare-syndromes

Want to explore this topic further?

Ask Mako anything about Weill–Marchesani syndrome — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report