Weill-Marchesani syndrome

Weill-Marchesani syndrome (WMS), also known as spherophakia-brachymorphia syndrome or congenital mesodermal dysmorphodystrophy, is a rare connective tissue disorder characterized by short stature, brachydactyly (short fingers and toes), joint stiffness, and distinctive eye abnormalities. The condition affects multiple body systems, primarily the skeletal system and the eyes. Affected individuals typically have a stocky, muscular build with proportionate short stature and broad hands with short fingers. Progressive joint limitation, particularly of the hands and wrists, is common. The hallmark ocular feature is microspherophakia — a small, spherical lens of the eye — which predisposes patients to ectopia lentis (lens subluxation or dislocation) and secondary glaucoma. Severe myopia (nearsightedness) is frequently present and may be progressive. Lens dislocation can cause acute pupillary block glaucoma, which is a medical emergency requiring prompt treatment. Cardiac abnormalities, including mitral valve prolapse and aortic valve disease, have been reported in some patients. Weill-Marchesani syndrome is caused by mutations in several genes involved in extracellular matrix biology, including FBN1 (fibrillin-1), ADAMTS10, ADAMTS17, and LTBP2. Both autosomal recessive and autosomal dominant forms exist. There is no cure for WMS, and management is multidisciplinary. Treatment focuses on regular ophthalmologic monitoring, surgical intervention for lens dislocation or glaucoma when necessary, and orthopedic management of joint stiffness. Miotics (pupil-constricting eye drops) should generally be avoided as they may worsen pupillary block. Genetic counseling is recommended for affected families.

Common questions about Weill-Marchesani syndrome