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Diseases » Marfan syndrome » Symptoms
 

Symptoms of Marfan syndrome

Symptoms of Marfan syndrome

The list of signs and symptoms mentioned in various sources for Marfan syndrome includes the 54 symptoms listed below:

Research symptoms & diagnosis of Marfan syndrome:

Marfan syndrome: Complications

Review medical complications possibly associated with Marfan syndrome:

Marfan syndrome Symptoms: Book Excerpts

Research More About Marfan syndrome

Do I have Marfan syndrome?

Home Diagnostic Testing

Home medical tests related to Marfan syndrome:

Less Common Symptoms of Marfan syndrome:

Ocassionally other symptoms may also present themselves as symptoms of Marfan syndrome. 19 of the more common ones are included in the list below:

Wrongly Diagnosed with Marfan syndrome?

The list of other diseases or medical conditions that may be on the differential diagnosis list of alternative diagnoses for Marfan syndrome includes:

See the full list of 10 alternative diagnoses for Marfan syndrome

Marfan syndrome: Research Doctors & Specialists

Research all specialists including ratings, affiliations, and sanctions.

More about symptoms of Marfan syndrome:

More information about symptoms of Marfan syndrome and related conditions:

Other Possible Causes of these Symptoms

Click on any of the symptoms below to see a full list of other causes including diseases, medical conditions, toxins, drug interactions, or drug side effect causes of that symptom.

Medical Books Online about Marfan syndrome

Medical Books Excerpts Excerpts of published medical book chapters related to Marfan syndrome are available from published medical books for more detailed information about Marfan syndrome.

Medical Books Excerpts
  • LORDOSIS
  • "Algorithmic Diagnosis of Symptoms and Signs" (2003)
  • SCOLIOSIS
  • "Algorithmic Diagnosis of Symptoms and Signs" (2003)
  • Scoliosis
  • "In A Page: Pediatric Signs and Symptoms" (2007)
  • Scoliosis
  • "Professional Guide to Diseases (Eighth Edition)" (2005)
  • LORDOSIS
  • "Differential Diagnosis in Primary Care" (2007)
  • SCOLIOSIS
  • "Differential Diagnosis in Primary Care" (2007)

Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

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Symptoms of Marfan syndrome: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about the symptoms of Marfan syndrome.


Marfan syndrome: Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))

The most common signs and symptoms of this disorder are skeletal abnormalities, particularly excessively long tubular bones and an arm span that exceeds the patient's height. The patient is usually taller than average for his family (in the 95th percentile for his age), with the upper half of his body shorter than average and the lower half, longer. His fingers are long and slender (arachnodactyly). Weakness of ligaments, tendons, and joint capsules results in joints that are loose, hyperextensible, and habitually dislocated. Excessive growth of the rib bones gives rise to chest deformities such as pectus excavatum (funnel chest).

Eye problems are also common; 75% of patients have crystalline lens displacement (ectopia lentis), the ocular hallmark of Marfan syndrome. Quivering of the iris with eye movement (iridodonesis) typically suggests this disorder. Most patients are severely myopic, many have retinal detachment, and some have glaucoma.

The most serious complications occur in the cardiovascular system and include weakness of the aortic media, which leads to progressive dilation or dissecting aneurysm of the ascending aorta. Such dilation appears first in the coronary sinuses and is commonly preceded by aortic insufficiency. Less-common cardiovascular complications include mitral valve prolapse and endocarditis.

Other associated problems include sparsity of subcutaneous fat, frequent hernias, cystic lung disease, recurrent spontaneous pneumothorax, and scoliosis or kyphosis.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Scoliosis: Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))

The most common curve in functional or structural scoliosis arises in the thoracic segment, with convexity to the right, and compensatory curves (S curves) in the cervical segment above and the lumbar segment below, both with convexity to the left. (See Cobb method for measuring angle of curvature.) As the spine curves laterally, compensatory curves develop to maintain body balance and mark the deformity. Scoliosis rarely produces subjective symptoms until it’s well established; when symptoms do occur, they include backache, fatigue, and dyspnea. Because many teenagers are shy about their bodies, their parents suspect that something is wrong only after they notice uneven hemlines, pant legs that appear unequal in length, or subtle physical signs like one hip appearing higher than the other. Untreated scoliosis may result in pulmonary insufficiency (curvature may decrease lung capacity), back pain, degenerative arthritis of the spine, disk disease, and sciatica.

» READ BOOK EXCERPT ONLINE »

Source: Professional Guide to Diseases (Eighth Edition), 2005

Scoliosis: Signs and symptoms
(Handbook of Diseases)

The most common curve in functional or structural scoliosis arises in the thoracic segment, with convexity to the right, and compensatory curves (S curves) in the cervical segment above and the lumbar segment below, both with convexity to the left. As the spine curves laterally, compensatory curves develop to maintain body balance and mark the deformity.

Scoliosis rarely produces subjective symptoms until it’s well established; when symptoms do occur, they include backache, fatigue, and dyspnea. Because many teenagers are shy about their bodies, their parents suspect that something is wrong only after they notice uneven hemlines, pant legs that appear unequal in length, or subtle physical signs like one hip appearing higher than the other.

Untreated scoliosis may result in pulmonary insufficiency (curvature may decrease lung capacity), back pain, degenerative arthritis of the spine, disk disease, and sciatica.

» READ BOOK EXCERPT ONLINE »

Source: Handbook of Diseases, 2003

Teething: Teething - signs & symptoms
(The 5-Minute Pediatric Consult)

Of note, fever >38.8°C (102°F), irritability, or diarrhea should not be attributed to teething, and other etiologies should be considered, such as acute otitis media, urinary tract infection, septicemia, meningitis, septic arthritis, or viral infection.

» READ BOOK EXCERPT ONLINE »

Source: The 5-Minute Pediatric Consult, 2008

Article Excerpts About Symptoms of Marfan syndrome:

Genes and Disease by the National Center for Biotechnology (Excerpt)

Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. (Source: Genes and Disease by the National Center for Biotechnology)

Questions and Answers about Marfan Syndrome: NIAMS (Excerpt)

Marfan syndrome affects different people in different ways. Some people have only mild symptoms, while others are more severely affected. In most cases, the disorder progresses as the person ages. The body systems most often affected by Marfan syndrome are:

  • Skeleton--People with Marfan syndrome are typically very tall, slender, and loose jointed. Since Marfan syndrome affects the long bones of the skeleton, arms, legs, fingers, and toes may be disproportionately long in relation to the rest of the body. A person with Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented, curvature of the spine (scoliosis), and flat feet.

  • Eyes--More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. Retinal detachment is a possible serious complication of this disorder. Many people with Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure within the eye) or cataracts (the eye's lens loses its clearness).

  • Heart and blood vessels (cardiovascular system)--Most people with Marfan syndrome have abnormalities associated with the heart and blood vessels. The valve between the left chambers of the heart is defective and may be large and floppy, resulting in an abnormal valve motion when the heart beats. In some cases, the valve may leak, creating a "heart murmur," which a doctor can hear with a stethoscope. Small leaks may not cause any symptoms, but larger ones may cause shortness of breath, fatigue, and palpitations (a very fast or irregular heart rate). Because of faulty connective tissue, the wall of the aorta (the large artery that carries blood from the heart to the rest of the body) may be weakened and stretch, a process called aortic dilation. Aortic dilation increases the risk that the aorta will tear (aortic dissection) or rupture, causing serious heart problems or sometimes sudden death.

  • Nervous system--The brain and spinal cord are surrounded by fluid contained by a membrane called the dura, which is composed of connective tissue. As people with Marfan syndrome get older, the dura often weakens and stretches, then begins to weigh on the vertebrae in the lower spine and wear away the bone surrounding the spinal cord. This is called dural ectasia. These changes may cause only mild discomfort or may lead to radiated pain in the abdomen or to pain, numbness, or weakness of the legs.

  • Skin--Many people with Marfan syndrome develop stretch marks on their skin, even without any weight change. These stretch marks can occur at any age and pose no health risk. However, people with Marfan syndrome are also at increased risk for developing an abdominal or inguinal hernia where a bulge develops that contains part of the intestines.

  • Lungs--Although connective tissue abnormalities make the tiny air sacs within the lungs less elastic, people with Marfan syndrome generally do not experience noticeable problems with their lungs. If, however, these tiny air sacs become stretched or swollen, the risk of lung collapse may increase. Rarely, people with Marfan syndrome may have sleep-related breathing disorders such as snoring or sleep apnea (a sleep disorder characterized by brief periods when breathing stops).
(Source: excerpt from Questions and Answers about Marfan Syndrome: NIAMS)

Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, "spider-like" fingers. Other problems include skeletal malformations, abnormal position of the lens of the eye, and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death. This disorder results from mutations in the gene that makes fibrillin-1, a protein important to connective tissue. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)

This disorder results from mutations in the gene that makes fibrillin-1, a protein important to connective tissue. (Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)

Marfan syndrome as a Cause of Symptoms or Medical Conditions

When considering symptoms of Marfan syndrome, it is also important to consider Marfan syndrome as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that Marfan syndrome may cause:

- (Source - Diseases Database)

Medical articles and books on symptoms:

These general reference articles may be of interest in relation to medical signs and symptoms of disease in general:

Full list of premium articles on symptoms and diagnosis

About signs and symptoms of Marfan syndrome:

The symptom information on this page attempts to provide a list of some possible signs and symptoms of Marfan syndrome. This signs and symptoms information for Marfan syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Marfan syndrome signs or Marfan syndrome symptoms. Furthermore, signs and symptoms of Marfan syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Marfan syndrome symptoms.


 » Next page: Diagnostic Tests for Marfan syndrome

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