2017年5月30日 · Marfan syndrome is caused by mutations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical features ranging from isolated features of Marfan syndrome to a severe and rapidly progressive form in newborns.

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] They also typically have exceptionally flexible joints and abnormally curved spines. [1]

2023年1月23日 · One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS), is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals. The defect is in the FBN1 gene of chromosome 15, which produces fibrillin, a connective tissue protein.

Klinefelter syndrome (karyotype 47,XXY) is a well-known chromosomopathy with a prevalence of 1/600–1/800 male births, affecting male sexual development and fertility. It can share with MFS skeletal habitus, low muscle mass, and the presence of mitral valve prolapse (until 55% of cases) .

Marfan syndrome (MFS) is a dominant disorder, mainly caused by mutations in the fibrillin-1 gene (FBN1) located on chromosome 15q21.1. The estimated prevalence of MFS is about 1 in 10000. Approximately 25% of MFS patients are sporadic cases due to new mutations [1, 2].

Marfan syndrome is a genetic disorder that affects connective tissue. There are many types of connective tissue. It provides strength, elasticity, and cushioning to structures throughout the body.

2016年2月26日 · MFS is clinically heterogeneous and other presentations of systemic connective tissue disease, such as Loeys–Dietz syndrome (LDS), Shprintzen-Goldberg syndrome (SGS) and the MASS phenotype among others, display a significant clinical overlap.

Marfan syndrome (MFS) is an autosomal dominant, age-related (that is, progressing with age) genetic disorder of the connective tissue with prominent manifestations in the skeletal, ocular and cardiovascular systems.

2006年10月12日 · Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder involving the cardiovascular, skeletal and ocular systems, the integument, lungs and dura. Cardinal manifestations include aortic aneurysm and dissection, ocular lens dislocation and long bone overgrowth. In 90–93% of cases, MFS is caused by mutations in the FBN1 gene.

2023年5月27日 · Marfan syndrome (MFS) is a rare autosomal dominant connective tissue disorder affecting the cardiovascular, skeletal, and ophthalmic systems. This report aimed to describe a novel genetic background and treatment prognosis of MFS.