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)
- Drooping 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
Sometimes diagnosis is made by a geneticist who will test for abnormalities in genes including but not excluded to:
- PTPN11
- SOS1
- KRAS
When to seek urgent medical care?
Contact your doctor if you feel your infant has symptoms of Noonan syndrome.
Treatment options
Treatment varies from individual to individual. Your doctor will evaluate your child and determine the best treatment approach based on the symptoms your child is experiencing. For example, short stature is sometimes treated with growth hormone.
Where to find medical care for Noonan syndrome?
Directions to Hospitals Treating Noonan syndrome
Prevention of Noonan syndrome
If you or someone in your family or your partner's family has Noonan syndrome you may want to receive genetic testing before attempting to get pregnant.
What to expect (Outlook/Prognosis)?
The prognosis for individuals with Noonan syndrome is typically good. However, it will vary from individual to individual depending on the extent of the abnormalities and types of symptoms present. Talk to your doctor to get a more specific prognosis for your child's condition.
Possible complications
- Heart problems
- Social difficulties
- Male infertility
- Failure to thrive (infants)
- Swallowing problems
- Speech and language delays
- Digestive problems