Weill-Marchesani syndrome
Weill-Marchesani Syndrome (pronounced: vy-ell mar-ke-sa-ni) is a rare genetic disorder that primarily affects the body's connective tissues.
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.
Definition
Weill-Marchesani Syndrome is characterized by short stature, brachydactyly (short fingers and toes), joint stiffness, and eye abnormalities including microspherophakia (small and spherical lens), ectopia lentis (dislocation of the lens), and glaucoma.
Genetics
The syndrome is caused by mutations in the ADAMTS10, ADAMTS17, FBN1, or LTBP2 genes. It can be inherited in an autosomal dominant or autosomal recessive manner.
Symptoms
The most common symptoms of Weill-Marchesani Syndrome include short stature, joint stiffness, heart abnormalities, and distinctive facial features. The eye abnormalities can lead to severe visual impairment.
Diagnosis
Diagnosis of Weill-Marchesani Syndrome is based on clinical examination, genetic testing, and imaging studies.
Treatment
Treatment for Weill-Marchesani Syndrome is symptomatic and supportive, focusing on managing the individual symptoms and complications. This may include physical therapy for joint stiffness and surgical interventions for eye abnormalities.
Prognosis
The prognosis for individuals with Weill-Marchesani Syndrome varies. With early diagnosis and appropriate management, most individuals can lead a normal life. However, complications such as glaucoma can lead to severe visual impairment.
See Also
External links
- Medical encyclopedia article on Weill-Marchesani syndrome
- Wikipedia's article - Weill-Marchesani syndrome
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