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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Marfan syndrome


Other Names for this Disease

  • Contractural arachnodactyly
  • Marfan syndrome type 1
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Symptoms

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What are the signs and symptoms of Marfan syndrome?

The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome.

Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. [1]
Last updated: 2/25/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Marfan syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Amyotrophy 90%
Arachnodactyly 90%
Dilatation of the ascending aorta 90%
Disproportionate tall stature 90%
Muscular hypotonia 90%
Pes planus 90%
Striae distensae 90%
Aneurysm 50%
Arthralgia 50%
Cheekbone underdevelopment 50%
Decreased body weight 50%
Dental malocclusion 50%
Dural ectasia 50%
Joint hypermobility 50%
Myopia 50%
Narrow face 50%
Pectus excavatum 50%
Protrusio acetabuli 50%
Scoliosis 50%
Sleep disturbance 50%
Visual impairment 50%
Abnormality of the aortic valve 7.5%
Abnormality of the endocardium 7.5%
Aortic dissection 7.5%
Arterial dissection 7.5%
Attention deficit hyperactivity disorder 7.5%
Chest pain 7.5%
Cleft palate 7.5%
Congestive heart failure 7.5%
Dolichocephaly 7.5%
Ectopia lentis 7.5%
Flat cornea 7.5%
Glaucoma 7.5%
Hernia of the abdominal wall 7.5%
Kyphosis 7.5%
Limitation of joint mobility 7.5%
Meningocele 7.5%
Micrognathia 7.5%
Myalgia 7.5%
Reduced bone mineral density 7.5%
Retinal detachment 7.5%
Emphysema 5%
Aortic dissection -
Aortic regurgitation -
Aortic root dilatation -
Arachnodactyly -
Ascending aortic aneurysm -
Autosomal dominant inheritance -
Cataract -
Congestive heart failure -
Decreased muscle mass -
Decreased subcutaneous fat -
Deeply set eye -
Dental crowding -
Dolichocephaly -
Dural ectasia -
Ectopia lentis -
Flexion contracture -
Genu recurvatum -
Glaucoma -
Hammertoe -
High palate -
Hypoplasia of the iris -
Incisional hernia -
Increased axial globe length -
Joint hypermobility -
Kyphoscoliosis -
Long face -
Malar flattening -
Medial rotation of the medial malleolus -
Micrognathia -
Mitral regurgitation -
Mitral valve prolapse -
Myopia -
Narrow face -
Narrow palate -
Overgrowth -
Pectus carinatum -
Pectus excavatum -
Pes cavus -
Pes planus -
Pneumothorax -
Premature calcification of mitral annulus -
Premature osteoarthritis -
Protrusio acetabuli -
Pulmonary artery dilatation -
Retinal detachment -
Retrognathia -
Spondylolisthesis -
Striae distensae -
Tall stature -
Tricuspid valve prolapse -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. What Are the Signs and Symptoms of Marfan Syndrome?. National Heart Lung and Blood Institute. 2010; http://www.nhlbi.nih.gov/health/health-topics/topics/mar/signs.html. Accessed 10/15/2013.


Other Names for this Disease
  • Contractural arachnodactyly
  • Marfan syndrome type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.