Weill-Marchesani syndrome

Jump to navigation Jump to search

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Weill–Marchesani syndrome
Classification and external resources
A six-year-old female with Weill-Marchesani syndrome, which has caused a dislocated lens.
A lens dislocation caused by Weill-Marchesani syndrome

WikiDoc Resources for Weill-Marchesani syndrome

Articles

Most recent articles on Weill-Marchesani syndrome

Most cited articles on Weill-Marchesani syndrome

Review articles on Weill-Marchesani syndrome

Articles on Weill-Marchesani syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Weill-Marchesani syndrome

Images of Weill-Marchesani syndrome

Photos of Weill-Marchesani syndrome

Podcasts & MP3s on Weill-Marchesani syndrome

Videos on Weill-Marchesani syndrome

Evidence Based Medicine

Cochrane Collaboration on Weill-Marchesani syndrome

Bandolier on Weill-Marchesani syndrome

TRIP on Weill-Marchesani syndrome

Clinical Trials

Ongoing Trials on Weill-Marchesani syndrome at Clinical Trials.gov

Trial results on Weill-Marchesani syndrome

Clinical Trials on Weill-Marchesani syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Weill-Marchesani syndrome

NICE Guidance on Weill-Marchesani syndrome

NHS PRODIGY Guidance

FDA on Weill-Marchesani syndrome

CDC on Weill-Marchesani syndrome

Books

Books on Weill-Marchesani syndrome

News

Weill-Marchesani syndrome in the news

Be alerted to news on Weill-Marchesani syndrome

News trends on Weill-Marchesani syndrome

Commentary

Blogs on Weill-Marchesani syndrome

Definitions

Definitions of Weill-Marchesani syndrome

Patient Resources / Community

Patient resources on Weill-Marchesani syndrome

Discussion groups on Weill-Marchesani syndrome

Patient Handouts on Weill-Marchesani syndrome

Directions to Hospitals Treating Weill-Marchesani syndrome

Risk calculators and risk factors for Weill-Marchesani syndrome

Healthcare Provider Resources

Symptoms of Weill-Marchesani syndrome

Causes & Risk Factors for Weill-Marchesani syndrome

Diagnostic studies for Weill-Marchesani syndrome

Treatment of Weill-Marchesani syndrome

Continuing Medical Education (CME)

CME Programs on Weill-Marchesani syndrome

International

Weill-Marchesani syndrome en Espanol

Weill-Marchesani syndrome en Francais

Business

Weill-Marchesani syndrome in the Marketplace

Patents on Weill-Marchesani syndrome

Experimental / Informatics

List of terms related to Weill-Marchesani syndrome

Overview

Weill-Marchesani syndrome (also known as Spherophakia-brachymorphia syndrome, congenital mesodermal dystrophy, and GEMSS 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. These typically include unusually small, round lenses of the eyes (spherophakia) that 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. Researchers suggest that Weill-Marchesani syndrome may have autosomal recessive or autosomal dominant inheritance[3].

Diagnosis

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 and Prognosis

Eye surgery has been documented to help those with ocular diseases, such as some forms of glaucoma.[1]

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. [2]

See also

References

  1. Harasymowycz, P; Wilson, R (2005), "Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome", J Pediatr Ophthalmol Strabismus, 41 (5): 295–9, 15478742.
  2. Anderson, Charles (2002). NORD Guide to Rare Disorders. USA: Lippincott Williams & Wilkins. pp. 266–267. ISBN 0781730635. Unknown parameter |coauthors= ignored (help)

it:Sindrome di Weill-Marchesani

Template:WH Template:WS