Marfanoid–progeroid–lipodystrophy

Marfanoid–progeroid–lipodystrophy syndrome is a rare genetic disorder characterized by features of Marfan syndrome, progeria, and lipodystrophy. The syndrome is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. Fibrillin-1 is an important component of the extracellular matrix, which provides strength and flexibility to connective tissue.

Symptoms and Signs

Patients with Marfanoid–progeroid–lipodystrophy syndrome exhibit a range of symptoms that overlap with those of Marfan syndrome, progeria, and lipodystrophy. These include:

• Tall stature and long limbs, similar to those seen in Marfan syndrome
• Early aging, as seen in progeria
• Loss of body fat, particularly in the face and limbs, as seen in lipodystrophy

Other symptoms may include intellectual disability, muscle weakness, and joint hypermobility.

Genetics

Marfanoid–progeroid–lipodystrophy syndrome is caused by mutations in the FBN1 gene. This gene encodes the protein fibrillin-1, which is an important component of the extracellular matrix. Mutations in the FBN1 gene disrupt the structure and function of fibrillin-1, leading to the symptoms of the syndrome.

Diagnosis

Diagnosis of Marfanoid–progeroid–lipodystrophy syndrome is based on clinical features and genetic testing. Genetic testing can identify mutations in the FBN1 gene that cause the syndrome.

Treatment

There is currently no cure for Marfanoid–progeroid–lipodystrophy syndrome. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy for muscle weakness and joint hypermobility, and nutritional support for lipodystrophy.

See also

• Marfan syndrome
• Progeria
• Lipodystrophy
• FBN1

Marfanoid–progeroid–lipodystrophy Resources
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