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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [ 6 ] [ 7 ] [ 1 ] Those with the condition tend to be tall and thin, with long arms, legs , fingers, and toes . [ 1 ]
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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The word pedigree is a corruption of the Anglo-Norman French pé de grue or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane [3] or because such a mark was used to denote succession in pedigree charts. [4] A pedigree ...
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
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 ...
Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15] Autosomal recessive Sickle cell anaemia: 1 in 625 [16] Cystic fibrosis: 1 in 2,000 Tay–Sachs disease: 1 in 3,000 Phenylketonuria: 1 in 12,000 Autosomal recessive polycystic kidney disease: 1 in 20,000 [17] Mucopolysaccharidoses: 1 in 25,000 Lysosomal acid lipase ...