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International Birth Defects Information Systems
Marfan Syndrome

International Birth Defects Information Systems



Marfan Syndrome


Topics: | Marfan | Marfanoid Hypermobility Syndrome | Contractural Arachnodactyly | Fibrillin 1 |

Related Topics : | Bibliography |

Service Related: | Support Groups | Professional Associations | Key Information Sources |

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Notes per Visitors  
Marfan syndrome is a heritable connective tissue disorder ... autosomal dominant disorder ... fibrillin ... protein ... provides the background substance for ... bones, blood vessels, the lungs, the eyes, and the heart ... explains many of the serious problems ... mitral valve prolapse, dilation of the aorta, aortic dissection, and aortic aneuryism ... imperative that a person with a family history and/or some of the physical features associated with Marfan syndrome be seen by a physician for an evaluation since the onset of some of these problems can be delayed ... regular cardiologist check-ups are required ... treatment options include drugs that lower the blood pressure, heart rate, or both. For those with ... aortic problems ... surgery may be required ... prophylactic antibiotics before undergoing surgery ...

Marfan Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, March 7, 2008
Visitor Comments [for Professionals mainly]
Gene Map Locus: 15q21.1 ...

Marfan Syndrome (Connective Issues)
National Marfan Foundation, 2007
Visitor Comments [Support Group]
... most up-to-date medical and research information ... current issues of interest to the Marfan community ...

Fibrillin 1
Victor A. McKusick, OMIM, Johns Hopkins University, March 26, 2007
Visitor Comments [for Professionals mainly]
Gene Map Locus: 15q21.1 ... Fibrillin is the major constitutive element of extracellular microfibrils and has widespread distribution in both elastic and nonelastic connective tissue throughout the body … Coincident with the locus for Marfan syndrome … Dietz et al. (1991) and Lee et al. (1991) demonstrated linkage between the FBN1 locus and the previously mapped Marfan syndrome locus at 15q15-q21.1 … Data from several studies suggested fibrillin as a possible candidate gene for Marfan syndrome (154700) …

Marfanoid Hypermobility Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, February 24, 2003
Visitor Comments [for Professionals mainly]
27-year-old man with a marfanoid habitus, pectus excavatum, and fifth finger camptodactyly. There was no evidence of aortic or eye involvement although a systolic click was heard over the heart and mesodermal anomalies were found in the angle of the anterior chamber. Very marked joint hypermobility and excessive stretchability of the skin suggested Ehlers-Danlos syndrome but no other features were present. The patient reported by Goodman et al. (1965, 1969) as having both E-D and Marfan syndromes probably had this disorder, and other possible examples are the cases of Roederer (1951) and coventry (1961) …

Contractural Arachnodactyly, Congenital
Victor A. McKusick, OMIM, Johns Hopkins University, January 3, 2005
Visitor Comments [for Professionals mainly]
CCA ... Beals Syndrome ... Fibrillin ... 5q23-q31 … Disorder be called 'contractural arachnodactyly' and further suggested that the patient reported by Marfan (1896) had this disorder rather than the Marfan syndrome (154700) as presently delineated (Hecht and Beals, 1972) …

What is the Marfan syndrome?
National Marfan Foundation, 2005
Visitor Comments[Support Group]
A heritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group. It is estimated that at least 200,000 people in the United States have the Marfan syndrome or a related connective tissue disorder … Difficult to diagnose because there is no specific laboratory test for the condition … 75 chapters, support groups and phone contacts for people with Marfan syndrome have emerged …

Marfan syndrome
National Library of Medicine, 2007
Visitor Comments [for Professionals mainly]
NCBI ... FBN1 on chromosome 15 ...

Revised Diagnostic Criteria For The Marfan Syndrome
Anne De Paepe et al., American Journal of Medical Genetics, 1996
Visitor Comments [for Professionals mainly]
Major criteria ... Pectus carinatum ... Pectus excavatum ... Wrist and thumb signs ... Scoliosis ... Reduced extensions at the elbows ... Ectopia lentis ... Dilatation of the ascending aorta ... Minor criteria ... Joint hypermobility ... Facial appearance ... Abnormally flat cornea ...

Marfan Syndrome
NOAH, February 16, 2007
Visitor Comments [Support Group]
March of Dimes ... As NOAH About: Pregnancy ... What is Marfan Syndrome? … Which affects about one in 10,000 … One of the most common inherited disorders of connective tissue … The syndrome is named for Dr. Antoine Marfan who, in 1896, described a 5-year-old patient with long, slender fingers and limbs and other skeletal abnormalities … It is a variable pattern of abnormalities that may affect the heart, blood vessels, lungs, eyes, bones and ligaments … The body's largest artery, the aorta, is nearly always affected to some extent … In some 50 percent of persons with Marfan syndrome, the lens of an eye is off-center …

Marfan Syndrome
Janis Cortese
Visitor Comments[Support Group]
What it is, and what to do about it ... I am not a doctor or anywhere near it. I'm just your average Jane with Marfan Syndrome. This page is here to educate people in general as to how to recognize Marfan … "Everything you know about Marfan Syndrome" and "any personal experiences you have had with it" - it's all here … Abraham Lincoln was thought to have had marfan syndrome … The marfan gene is dominant and if one of your parents have it you have a 50% chance of inheriting it…

Questions and Answers about Marfan Syndrome
National Institute of Arthritis and Musculoskeletal and Skin Diseases
What Are the Characteristics of Marfan Syndrome? … What Causes Marfan Syndrome? … What Types of Doctors Treat Marfan Syndrome? … What Treatment Options Are Available? … What Research Is Being Conducted …

Health Supervision for Children with Marfan Syndrome
Committee on Genetics, American Academy of Pediatrics, November, 1996
The major clinical manifestations involve the skeletal, ocular, and cardiovascular systems and the skin … From 1 month to 1 year: infancy … Review the patient's growth … Review the genetics of the syndrome with the family … Health Supervision from 1 to 5 years … Evaluate the child's vision using … Objective criteria … Investigate symptoms of myopia and retinal detachment ... De-emphasize for the child the importance of strenuous exercise … From 5 to 13 years: Late childhood … Review the child's growth … Discuss symptoms of aortic dissection … Determine bone age … Supervision from 13 to 21 years … Obtain an echocardiogram …

Marfan Syndrome Patients Benefit from Beta-Blockers
Debbie Bangledorf et al., Hopkins Medicine, June 28, 1994
Johns Hopkins researchers have shown that long-term use of beta-blocker drugs, which slow the heart rate, reduces progressive widening of the aorta in people with Marfan syndrome. Left untreated, the aorta can burst and cause premature death in Marfan patients …

National Marfan Foundation
The National Marfan Foundation, June 19, 2007
... founded in 1981 by people who have the Marfan syndrome and their families. It is a voluntary organization that has three objectives …

Canadian Marfan Association
About Marfan Syndrome … About the Association … Medical Advisory Board … Articles …

Síndrome de Marfan
NOAH, February 16, 2007
Visitor Comments [Support Group] [Spanish]
March of Dimes ... Pregntale a NOAH sobre el embarazo ... El sndrome de Marfan afecta a cerca de uno en 10,000 estadounidenses … Casi siempre son afectados los vasos del corazn y los vasos sanguneos … La arteria ms grande del cuerpo, la aorta, es casi siempre afectada hasta cierto punto … En un 50 por ciento de las personas con el sndrome de Marfan, el lente de un ojo est descentrado. La miopa es otro sntoma comn, aunque el lente est centrado o no …

Marfan Hilfe
Visitor Comments [Support Group] [German]
Herzlich Willkommen bei der Marfan Hilfe (Deutschland) e.V.

La Sindrome Di Marfan
Associazione Vittorio, March 12, 2007
Visitor Comments [Italian]
L'associazione Vittorio per la Sindrome di Marfan, fondata nel gennaio 1994 a Torino …

Marfan Network Japan
2007
Visitor Comments [Japanese]

Marfan Syndrome
I.B.I.S. Birth Defects, February 5, 2002
Visitor Comments [For Parents] [Ukrainian]
Ukrainian factsheet for parents

Marfan Syndrome
I.B.I.S. Birth Defects, February 15, 2002
Visitor Comments [Ukrainian]
Factsheet in Ukrainian

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Last Updated: 2008/3/3

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American Medical Association