Marfan Syndrome
Summary :
Table of Contents
- Introduction.
- Skeletal system.
- Cardiovascular system.
- Other characterstics.
- Genetic factors.
- Transition mode.
- Mapping.
- Identification of protein products.
- Disease alleles.
- Molecular biochemistry.
- Related disorders.
- Diagnosis.
- Treatment.
- Bibliography.
Abstract
marfan syndrome (MFS) is an autosomal dominant disorder characterized by deformities in the skeletal, cardiovascular, and ocular systems. MFS is caused by a defect in the fibrillin-1 gene (FBN1), located on chromosome 15 at 15q21. Discovery: marfan syndrome was first described in 1896 by Antoine marfan, a French pediatrician. Worldwide, it is estimated to affect 2-3 in 10,000 people, although this number has been disputed. This figure probably underestimates the true incidence because the disease cannot always be diagnosed with certainty. marfan syndrome patients have an increased height and disproportionately large arm spans. Many patients also display arachnodactyly (long digits) and/or anterior chest deformities resulting from overgrown ribs. Joint laxity and teeth crowding are also very common symptoms. Other characteristics can include scoliosis, flat feet, and craniofacial irregularities.
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