Marfan syndrome

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Description from OMIM

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (121050), which is caused by mutation in the FBN2 gene (612570). Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Mitral valve prolapse circulatory 70 % 8553383 2011-10-19
Aortic root dilatation circulatory 65 % 8553383 2011-10-05
Tall stature skeletal 57 % 8553383 2011-10-05
Arachnodactyly skeletal 51 % 8553383 2011-10-05
Ectopia lentis nervous 50 % 8553383 2011-10-10
Striae integumentary 36 % 8553383 2011-10-05
Dolichostenomelia skeletal 35 % 8553383 2011-10-05
Scoliosis skeletal 29 % 8553383 2011-10-05
Myopia nervous 28 % 8553383 2011-10-05
Iridonesis nervous 24 % 8553383 2011-10-05
Hypermobile joints skeletal 22 % 8553383 2011-10-05
Iris transillumination nervous 21 % 8553383 2011-10-05
Dissecting aortic aneurysm circulatory 10 % 8553383 2011-10-05
Hernia integumentary 10 % 8553383 2011-10-05
High arched palate skeletal 9 % 8553383 2011-10-05
Spontaneous pneumothorax respiratory 6 % 8553383 2011-10-05



List of references:


Is Marfan syndrome associated with symptomatic intracranial aneurysms?
J S van den Berg, M Limburg, R C Hennekam,

Marfan syndrome is a heritable disorder of connective tissue caused by a deficiency of the glycoprotein fibrillin. In several publications and neurological textbooks, a relationship between Marfan syndrome and intracranial aneurysms has been assumed.

Stroke - Jan 1996