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Weill-Marchesani Syndrome.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2007 Nov 01 [updated 2013 Feb 14].

Excerpt

CLINICAL CHARACTERISTICS:

Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, proportionate short stature, brachydactyly, and joint stiffness. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive and autosomal dominant WMS cannot be distinguished by clinical findings alone.

DIAGNOSIS/TESTING:

Diagnosis relies on clinical findings; molecular genetic testing can help confirm the diagnosis. Mutations in ADAMTS10 are known to cause autosomal recessive WMS. Recently a mutation in LTPBP2 has been reported one family with autosomal recessive inheritance. A mutation in FBN1 has been identified in one family with autosomal dominant WMS.

MANAGEMENT:

Treatment of manifestations: Early detection and removal of an ectopic lens to decrease the possibility of pupillary block and glaucoma. Surgical management of glaucoma can include peripheral iridectomy to prevent or relieve pupillary block and trabeculectomy in advanced chronic angle closure glaucoma; medical treatment of glaucoma is difficult because of paradoxical response to miotics and mydriatics. Prevention of secondary complications: Airway management during anesthesia can be difficult because of stiff joints, poorly aligned teeth, and maxillary hypoplasia. Surveillance: Periodic ophthalmic examinations for early detection and removal of an ectopic lens. Agents/circumstances to avoid: Ophthalmic miotics and mydriatics because they can induce pupillary block.

GENETIC COUNSELING:

FBN1-related WMS is inherited in an autosomal dominant manner. Most individuals diagnosed with autosomal dominant WMS have an affected parent. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with autosomal dominant WMS has a 50% chance of inheriting the mutation. ADAMTS10-related WMS and LTBP2-related WMS are inherited in an autosomal recessive manner. The parents of a child with autosomal recessive WMS are obligate heterozygotes and therefore carry one mutant allele. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Prenatal diagnosis is possible for pregnancies at increased risk for WMS if the disease-causing mutation(s) in the family are known.

Copyright © 1993-2015, University of Washington, Seattle. All rights reserved.

PMID:
20301293
[PubMed]
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