Marfanoid–progeroid–lipodystrophy syndrome
HUMAN DISEASE
Marfan lipodystrophy syndrome; Marfan-progeroid-lipodystrophy syndrome; Progeroid fibrillinopathy; Marfanoid-progeroid-lipodystrophy syndrome; Marfanoid-progeroid-lipodystrophy; Marfanoid–progeroid–lipodystrophy; Marfan–progeroid–lipodystrophy; Marfan–progeroid–lipodystrophy syndrome; Marfan-progeroid-lipodystrophy; Marfan-progeroid lipodystrophy; Marfanoid-progeroid lipodystrophy; Marfanoid–progeroid lipodystrophy; Marfan–progeroid lipodystrophy; MFLS; Marfanoid lipodystrophy syndrome; Marfanoid lipodystrophy; Marfan lipodystrophy
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy. It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.