Noonan syndrome (patient information)
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Noonan syndrome |
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Noonan syndrome On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Assistant-Editor-In-Chief: Meagan E. Doherty
Overview
Noonan syndrome is a genetic disorder present at birth. This disorder is characterized by deformaties and abnormalities of many parts of the body. It can cause mental retardation, delayed onset of puberty, malformations of the genitals and unusual facial features. This disorder affects both males and females.
What are the symptoms of Noonan syndrome?
Symptoms of Noonan syndrome may include:
- Physical Appearance:
- abnormally shaped or low-set ears
- downward slanting eyes
- wide-set eyes
- extra fold of skin on the inner part of the eye (epicanthal folds)
- dropping eyelids (ptosis)
- short stature
- sinking in or protruding out of the breast bone
- short or webbed neck
- scoliosis
- excess skin on the back of the neck
- small penis
- undescended testicles
- Developmental:
- mental retardation
- motor problems
- speech and language problems
- delayed onset of puberty
What are the causes of Noonan syndrome?
Noonan syndrome is caused by the genetic inheritance of several abnormal genes from one or both parents.
Who is at highest risk?
Individuals at highest risk are those who have parents or family members with Noonan syndrome or abnormal/mutated genes associated with Noonan syndrome.
Diagnosis
Noonan syndrome is diagnosed using a combination of the following methods as denoted by your physician. The method of evaluation may depend on the symptoms present:
- physical examination
- genetic testing
- EKG
- chest x-ray
- hearing screenings
- platelet counts
- blood clotting factor test
When to seek urgent medical care?
Contact your doctor if you feel your infant has symptoms of Noonan syndrome.