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Marfan’s syndrome is a disorder of the connective tissue in the body. It involves tissue in areas such as the eye, skeletal system and blood vessels. As your question implies, it’s an inherited disorder. Marfan’s is the result of a defective gene that controls the formation of a protein in connective tissue. The pattern of inheritance is called autosomal dominant, meaning that it can occur in either sex, and can be inherited from one parent who has the disorder. The disorder was first recognized by a French pediatrician, Antonin Marfan.

People with Marfan’s syndrome may have one or more of the following manifestations:

Unusual height and the span of the arms exceeding height

Long fingers and toes (arachnodactyly, or “spider digits”)

Deformity of the breastbone (sternum) and spine

Excessive flexibility of joints

Unusually high palate

Dislocation of the lens of the eye

Enlargement of the aorta near the heart

Leakage of the aortic valve of the heart

A diagnosis of Marfan’s is not based on any single feature, nor are there any that exclude it. Diagnosis also may be difficult in people who display only a few of the above manifestations. Knowledge of a family history for the disorder is of value in such instances, and genetic testing, while expensive, may identify some individuals with the disorder.

The main threats to health and longevity in Marfan’s syndrome relate to aortic involvement that can impair function of the aortic valve or lead to an aneurysm of the aorta. The availability of echocardiography to monitor for aortic widening and treatment, when needed, with beta-blocker drugs or surgery, has increased the average life span of people with Marfan’s syndrome from 32 years in 1972 to 61 years in 1996.

Anyone suspected of having Marfan’s syndrome who has hearing loss, degenerative arthritis or retinal detachment also should be evaluated for Stickler syndrome. Stickler syndrome also is an inherited disorder that affects sight, hearing, the joints, as well as other parts of the body.