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Marfan syndrome and marfan-like syndromes.

06:00 EST 1st February 2011 | BioPortfolio

Summary of "Marfan syndrome and marfan-like syndromes."

Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-β signalling. It is now known that the disease is caused by altered regulation of TGF-β. As a result, the definition of MFS- and MFS-related diseases as the prototypical structural disorder of the connective tissue has changed to that of a developmental abnormality with broad and complex effects on the morphogenesis and tissue remodelling.

Affiliation

Kildegårdsvej 16 B, 2. tv., 2900 Hellerup. t.z.belsing@dadlnet.dk.

Journal Details

This article was published in the following journal.

Name: Ugeskrift for laeger
ISSN: 1603-6824
Pages: 333-337

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Medical and Biotech [MESH] Definitions

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

A fibrillin (FBN1) that functions as a structural support protein for MICROFIBRILS. It also regulates the maturation of OSTEOBLASTS by controlling the availability and concentration of TGF-BETA and BONE MORPHOGENETIC PROTEINS. Mutations in the FBN1 gene are associated with MARFAN SYNDROME.

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

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