Weill-marchesani syndrome

Weill-Marchesani Syndrome (WMS) is a rare genetic disorder characterized by short stature, eye abnormalities, and joint stiffness.

Pronunciation

Weill-Marchesani Syndrome is pronounced as "vile-mar-keh-sah-nee syndrome".

Etymology

The syndrome is named after the French ophthalmologist Georges Weill and the Italian physician Ottavio Marchesani, who first described the condition in the 1930s.

Symptoms

The most common symptoms of Weill-Marchesani Syndrome include short stature, brachydactyly (short fingers and toes), stiff joints, and specific eye abnormalities such as microspherophakia (small and spherical lens), ectopia lentis (dislocation of the lens), and glaucoma.

Causes

Weill-Marchesani Syndrome is caused by mutations in the ADAMTS10, ADAMTS17, FBN1, or LTBP2 genes. It is inherited in an autosomal recessive or autosomal dominant manner.

Diagnosis

Diagnosis of Weill-Marchesani Syndrome is based on clinical examination, family history, and genetic testing. The presence of characteristic eye abnormalities, short stature, and joint stiffness can suggest the diagnosis.

Treatment

Treatment for Weill-Marchesani Syndrome is symptomatic and supportive. It may include physiotherapy for joint stiffness, eye surgery for lens dislocation and glaucoma, and regular monitoring for potential complications.

Related Terms

• Genetic disorder
• Short stature
• Brachydactyly
• Microspherophakia
• Ectopia lentis
• Glaucoma
• ADAMTS10
• ADAMTS17
• FBN1
• LTBP2
• Autosomal recessive
• Autosomal dominant
• Physiotherapy
• Eye surgery

External links

• Medical encyclopedia article on Weill-marchesani syndrome
• Wikipedia's article - Weill-marchesani syndrome

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