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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 ...
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS in which Marfan symptoms are accompanied by features usually associated with neonatal progeroid syndrome (also referred to as Wiedemann–Rautenstrauch syndrome) in which the levels of white adipose tissue are ...
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch in the palate, arachnodactyly, and hyperlaxity.
Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete. [ 10 ] MFLS is caused by mutations near the 3'-terminus of FBN1 that cause a deficiency of the protein hormone asprosin and progeroid-like symptoms with reduced ...
Elizabeth Anne Velásquez (/ ˈ l ɪ z i v ə ˈ l æ s k ɛ z /; born March 13, 1989) is an American motivational speaker, activist, writer, and YouTuber.She was born with an extremely rare congenital disease called Marfanoid–progeroid–lipodystrophy syndrome that, among other symptoms, prevents her from accumulating body fat and gaining weight.
Stiff skin syndrome (also known as "Congenital fascial dystrophy" [1]) is a cutaneous condition characterized by ‘rock hard’ induration, thickening of the skin and subcutaneous tissues, limited joint mobility, and mild hypertrichosis in infancy or early childhood. Immunologic abnormalities or vascular hyperactivity are not present in ...
A tragic photo of a baby born with only one eye and no nose has been circulating the Internet. The baby is being referred to as "baby cyclops" due to the comparisons drawn with the mythical cyclops.
Hippocratic facies – eyes are sunken, temples collapsed, nose is pinched with crusts on the lips, and the forehead is clammy; Moon face (also known as "Cushingoid facies") – Cushing's syndrome; Elfin facies – Williams syndrome, Donohue syndrome; Potter facies – oligohydramnios; Mask like facies – parkinsonism