Weill-Marchesani Syndrome 2

Clinical Characteristics
Ocular Features: 

Glaucoma may have an infantile onset and pupillary block glaucoma is a lifelong risk.  The lenses dislocate inferiorly but may migrate into the anterior chamber.  Spherophakia occurs in 74% of patients.  Extreme myopia in the range of -13 D may be present.  There is an increased risk of retinal detachment.

Systemic Features: 

One patient had mitral valve insufficiency.  Midface hypoplasia with a protruding lower lip was found in two patients.  The elbow and perhaps other large joints have limited mobility and the interphalangeal joints are thickened with difficulty in full extension of the fingers.  Patients are short in stature and the digits are often short and stubby.  The skin is tanned and thickened in places.  Cardiac anomalies are present in 13% of patients.


This is an autosomal dominant disorder resulting from heterozygous mutations in FBN1 (15q21.1).  It is thus allelic to the Marfan syndrome (154700).  Weill-Marchesani syndrome 1 (277600) is a clinically similar syndrome but results from homozygous mutations in ADAMTS10. Homozygous mutations in ADAMTS17 cause the Weill-Marchesani-Like syndrome (613195).

Some individuals with isolated autosomal dominant ectopia lentis (129600) have mutations in FBN1.

Autosomal dominant
Treatment Options: 

Patients should be monitored for the occurrence of glaucoma and treated appropriately.  Frequent refractive checks are recommended.  Lens extraction may be indicated when the visual axis is obstructed by a displaced lens or when lens-induced glaucoma occurs.

Article Title: 

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

Faivre L, Dollfus H, Lyonnet S, Alembik Y, M?(c)garban?(c) A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. Review.

PubMed ID: 
Subscribe to RSS - GEMSS