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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Weill-Marchesani syndrome


Other Names for this Disease

  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Treatment

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How might Weill-Marchesani syndrome be treated?

There is no cure for Weill-Marchesani syndrome, and treatment focuses addressing the symptoms that develop. Individuals with this condition often need a team of medical specialists, including pediatricians, eye specialists (ophthalmologists and optometrists), orthopedists, and cardiologists.

Regular eye exams are important for early diagnosis of eye problems. Corrective glasses, visual aids, or eye surgery may be needed to improve vision. Increased pressure within the eye (glaucoma) may be treated with eye drops, laser therapy, surgical removal of the iris or lens. Contraction or dilation of the pupils can cause glaucoma in some people with Weill-Marchesani syndrome. Medications that contract the pupil must be avoided, and medications that dilate the pupils must be given with care.

Joint stiffness and bone abnormalities can cause complications if anesthesia is needed for a procedure. It is important to inform a physician of the diagnosis before receiving anesthesia, as it can impact airway management.[1]
Last updated: 10/3/2013

References
  1. Ekaterini Tsilou. Weill Marchesani syndrome. National Organization for Rare Disorders. 03/19/2012; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/893/viewAbstract. Accessed 10/3/2013.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.

Clinical Trials & Research for this Disease

  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter the disease name in the "Terms Search" box. Then click "Submit Query".
Other Names for this Disease
  • Mesodermal dysmorphodystrophy congenital
  • Spherophakia-brachymorphia syndrome
  • WM Syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.