Rare Pediatrics News
Disease Profile
Marfan syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
0
Age of onset
All ages
ICD-10
Q87.4
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Contractural arachnodactyly
Categories
Congenital and Genetic Diseases; Connective tissue diseases; Eye diseases
Summary
Marfan
Symptoms
Other common features of Marfan syndrome include:
- Unusually flexible joints
- Long and narrow face
- Highly arched roof of the mouth
- Crowded teeth
Scoliosis - Sunken chest (pectus excavatum) or a protruding chest (pectus carinatum)
- Eye issues: 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.[3]
Other signs and symptoms may include:[4]
- Stretch marks in the skin
- Abdominal or inguinal hernia, in which a bulge develops that contains part of the intestines
- Lung problems (rarely).
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ] |
0001166 | ||
Ascending tubular aorta aneurysm |
Bulging of wall of large artery located above heart
|
0004970 | ||
Chronic fatigue |
Chronic extreme exhaustion
|
0012432 | ||
Disproportionate tall stature | 0001519 | |||
Pectus carinatum |
Pigeon chest
|
0000768 | ||
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 | ||
Slender build |
Thin build
|
0001533 | ||
Spontaneous pneumothorax |
Spontaneous collapsed lung
|
0002108 | ||
Striae distensae |
Stretch marks
|
0001065 | ||
30%-79% of people have these symptoms | ||||
Abnormality of malar bones | 0012369 | |||
Arthralgia/ |
Joint pain/Joint inflammation
|
0005059 | ||
Dental crowding |
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] |
0000678 | ||
Dural ectasia | 0100775 | |||
High, narrow palate |
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
[ more ] |
0002705 | ||
Increased axial length of the globe |
Increased front to back length of eyeball
|
0007800 | ||
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ] |
0001382 | ||
Lens luxation |
Dislocated lens
|
0012019 | ||
Lens subluxation |
Partially dislocated lens
|
0001132 | ||
Mitral valve prolapse | 0001634 | |||
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 | ||
Narrow face |
Decreased breadth of face
Decreased width of face
[ more ] |
0000275 | ||
Pectus excavatum |
Funnel chest
|
0000767 | ||
Protrusio acetabuli | 0003179 | |||
Scoliosis | 0002650 | |||
Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ] |
0002360 | ||
Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 | ||
5%-29% of people have these symptoms | ||||
Aortic tortuosity | 0006687 | |||
Arterial dissection | 0005294 | |||
Ascending aortic dissection | 0004933 | |||
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 | ||
Cachexia |
Wasting syndrome
|
0004326 | ||
Cleft roof of mouth
|
0000175 | |||
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ] |
0001635 | ||
Descending aortic dissection | 0012499 | |||
Dilatation of an abdominal artery | 0002636 | |||
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 | ||
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 | ||
Emphysema | 0002097 | |||
Flat cornea | 0007720 | |||
Glaucoma | 0000501 | |||
Hemoptysis |
Coughing up blood
|
0002105 | ||
Hypoplasia of the iris |
Underdeveloped iris
|
0007676 | ||
Inguinal hernia | 0000023 | |||
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 | ||
Limited elbow movement |
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ] |
0002996 | ||
Meningocele | 0002435 | |||
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |||
Mitral valve calcification | 0004382 | |||
Muscular |
Low or weak muscle tone
|
0001252 | ||
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 | ||
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 | ||
Osteopenia | 0000938 | |||
0000939 | ||||
Pulmonary artery dilatation | 0004927 | |||
Retinal detachment |
Detached retina
|
0000541 | ||
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
TreatmentThe resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional. Management Guidelines
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Organizations Supporting this Disease
Social Networking Websites
Learn moreThese resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Where to Start
In-Depth Information
References
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