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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 ]
Individuals with Marfan Syndrome usually have fingers that are longer than those that do not have the syndrome. The extremity of difference in finger length is a result of variable expressivity. Some common syndromes that involved phenotypic variability due to expressivity include: Marfan syndrome, Van der Woude Syndrome, and neurofibromatosis.
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.
Examples of this type of disorder are Huntington's disease, [21]: 58 neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), tuberous sclerosis, Von Willebrand disease, and acute intermittent porphyria. Birth ...
Statistical genetics analysis is used to detect these errors and to detect the possibility of the individual being linked to a specific disease linked to a single gene. Examples of such diseases in humans caused by single genes are Huntington's disease or Marfan syndrome. [2]
This page was last edited on 7 December 2024, at 09:29 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.
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 ...
Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome. [1]