Fbn1 Related Marfan Syndrome Genereviews Ncbi Bookshelf

FBN1-Related Marfan Syndrome - GeneReviews® - NCBI Bookshelf.

Apr 18, 2001 . FBN1-related Marfan syndrome (Marfan syndrome), a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ....

https://www.ncbi.nlm.nih.gov/books/NBK1335/.

Heritable Thoracic Aortic Disease Overview - GeneReviews® - NCBI Bookshelf.

Feb 13, 2003 . FBN1. The most common FBN1-related syndrome is Marfan syndrome, characterized by cardiovascular findings (dilatation of the aorta at the level of the sinuses of Valsalva, predisposition for aortic tear and rupture (see Table 2), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal ....

https://www.ncbi.nlm.nih.gov/books/NBK1120/.

22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf.

Sep 23, 1999 . Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal ....

https://www.ncbi.nlm.nih.gov/books/NBK1523/.

Marfan Syndrome - StatPearls - NCBI Bookshelf.

May 08, 2022 . 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.[1][2] The defect is in the FBN1 gene of chromosome 15, which produces fibrillin, a connective tissue protein.[3][4] There is a broad range of clinical severity associated with ....

https://www.ncbi.nlm.nih.gov/books/NBK537339/.

Williams Syndrome - GeneReviews® - NCBI Bookshelf.

Apr 09, 1999 . Williams syndrome (WS) is characterized by cardiovascular disease (elastin arteriopathy, peripheral pulmonary stenosis, supravalvar aortic stenosis, hypertension), distinctive facies, connective tissue abnormalities, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities ....

https://www.ncbi.nlm.nih.gov/books/NBK1249/.

GeneReviews® - NCBI Bookshelf.

Dec 12, 2003 . GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific ....

https://www.ncbi.nlm.nih.gov/books/NBK1116/.

Vascular Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf.

Sep 02, 1999 . Vascular Ehlers-Danlos syndrome (vEDS) is characterized by arterial, intestinal, and/or uterine fragility; thin, translucent skin; easy bruising; characteristic facial appearance (thin vermilion of the lips, micrognathia, narrow nose, prominent eyes); and an aged appearance to the extremities, particularly the hands. Vascular dissection or rupture, gastrointestinal perforation, ....

https://www.ncbi.nlm.nih.gov/books/NBK1494/.

Hypermobile Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf.

Oct 22, 2004 . Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible. Subluxations and dislocations are common; they may occur spontaneously or with minimal trauma and can be acutely painful. ....

https://www.ncbi.nlm.nih.gov/books/NBK1279/.

Myotonic Dystrophy Type 1 - GeneReviews® - NCBI Bookshelf.

Sep 17, 1999 . Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital..

https://www.ncbi.nlm.nih.gov/books/NBK1165/.

Tuberous Sclerosis Complex - GeneReviews® - NCBI Bookshelf.

Jul 13, 1999 . NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. ... NCBI Genes and Disease. Tuberous sclerosis. Tuberous Sclerosis Alliance. 801 Roeder Road. Suite 750. Silver Spring MD 20910. ... Review FBN1-Related Marfan Syndrome [GeneReviews ....

https://www.ncbi.nlm.nih.gov/books/NBK1220/.

GeneReviews ® [Internet] - PubMed.

GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.Each chapter in GeneReviews is written by one or more experts on the specific ....

https://pubmed.ncbi.nlm.nih.gov/20301295/.