Marfanoid–progeroid–lipodystrophy syndrome

Marfanoid–progeroid–lipodystrophy syndrome (MPLS) is a rare genetic disorder characterized by features of Marfan syndrome, progeroid syndrome, and lipodystrophy.

Symptoms and Signs

The symptoms of MPLS can vary greatly from person to person. However, common symptoms include:

• Marfanoid habitus: Tall stature, long limbs, and thin body type, similar to those seen in Marfan syndrome.
• Progeroid features: Premature aging, including skin thinning and wrinkling, hair loss, and joint stiffness.
• Lipodystrophy: Loss of body fat, particularly in the face, arms, and legs.

Causes

MPLS is caused by mutations in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1, which is an important component of connective tissues. Mutations in the FBN1 gene disrupt the normal function of fibrillin-1, leading to the various symptoms of MPLS.

Diagnosis

Diagnosis of MPLS is based on the presence of characteristic symptoms and confirmed by genetic testing to identify mutations in the FBN1 gene.

Treatment

There is currently no cure for MPLS. Treatment is focused on managing symptoms and may include physical therapy for joint stiffness, medication for pain, and cosmetic procedures for lipodystrophy.

See Also

• Marfan syndrome
• Progeroid syndromes
• Lipodystrophy

References

Marfanoid–progeroid–lipodystrophy syndrome Resources
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