Search results
Results from the WOW.Com Content Network
Marfan syndrome is inherited in an autosomal-dominant pattern. Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its autosomal dominant nature. Most individuals with MFS have another affected family member.
Marfan syndrome (MFS) is an autosomal dominant disorder that affects the connective tissues of bodily systems such as the eyes, cardiovascular system, skeletal system, skin, pulmonary system and the dura.
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 ...
Marfan syndrome - inherited as an autosomal dominant characteristic, due to mutations in the FBN1 gene that encodes fibrillin 1. [3] Homocystinuria - condition of methionine metabolism brought on by a cystathionine β-synthase deficit that causes a build-up of homocysteine and its metabolites in the urine and blood. [4]
Patient with Marfan Syndrome. Marfan syndrome (MFS) is an autosomal dominant disorder which affects 1 in 5–10,000 people. [34] MFS arises from a mutation in the FBN1 gene, which encodes for the glycoprotein fibrillin-1, a major constituent of extracellular microfibrils which form connective tissues. [34]
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome, people with CCA typically have an arm span that is greater than their height and very long fingers and toes. [2]