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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 ]
2200 14118 Ensembl ENSG00000166147 ENSMUSG00000027204 UniProt P35555 Q61554 RefSeq (mRNA) NM_000138 NM_007993 RefSeq (protein) NP_000129 NP_032019 Location (UCSC) Chr 15: 48.41 – 48.65 Mb Chr 2: 125.14 – 125.35 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular ...
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 ]
The Foundation provides information about Marfan syndrome and funds research for the purposes of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue disorder. The Foundation also lobbies Congress to fund Marfan syndrome research and engages in its own fundraising activities. [1]
Abnormalities in this system occur in relatively rare genetic diseases such as Long QT syndrome, Brugada syndrome, and Catecholaminergic polymorphic ventricular tachycardia, all associated with sudden death. Consequently, autopsy-negative sudden cardiac deaths (no physical abnormalities identified) may comprise a larger part of the ...
Joint hypermobility syndrome shares symptoms with other conditions such as Marfan syndrome, Ehlers-Danlos Syndrome, and osteogenesis imperfecta. Experts in connective tissue disorders formally agreed that severe forms of Hypermobility Syndrome and mild forms of Ehlers-Danlos Syndrome Hypermobility Type are the same disorder. [citation needed]
It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease. [6]
[24] [43] Marfan syndrome, Ehlers–Danlos syndrome, and autosomal dominant polycystic kidney disease are the three most common connective tissue disorders associated with sCSFLs. [24] Roughly 20% of patients with a sCSFL exhibit features of Marfan syndrome, including tall stature, hollowed chest ( pectus excavatum ), joint hypermobility and ...