Weill-Marchesani syndrome

Weill-Marchesani syndrome

Infobox_Disease
Name = PAGENAME | DiseasesDB = 29897
ICD10 =
ICD9 = ICD9|759.89
ICDO =
OMIM =
MedlinePlus =
eMedicineSubj =
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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 [http://children.webmd.com/weill-marchesani-syndrome] .

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. [Citation
last = Harasymowycz | first = P | last2 = Wilson | first2 = R | title = Surgical treatment of advanced chronic angle closure glaucoma in Weill-Marchesani syndrome | journal = J Pediatr Ophthalmol Strabismus | volume = 41 | issue = 5
pages = 295-9 | year = 2005 | url = http://www.ncbi.nlm.nih.gov/pubmed/15478742 | id = 15478742 .]

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. [cite book | last = Anderson | first = Charles | coauthors = Anderson, N | title = NORD Guide to Rare Disorders | publisher = Lippincott Williams & Wilkins | date = 2002 | location = USA | pages = 266-267 | isbn = 0781730635 ]

References


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  • Weill-Marchesani syndrome — a congenital disorder of connective tissue transmitted as an autosomal dominant or recessive trait, characterized by brachycephaly, brachydactyly, short stature with a broad chest and heavy musculature, reduced joint mobility, spherophakia,… …   Medical dictionary

  • Marchesani syndrome — Mar·che·sa·ni syndrome (mahr″kə sahґne) [Oswald Marchesani, German ophthalmologist, 1900–1952] Weill Marchesani syndrome …   Medical dictionary

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  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

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