Noonan Syndrome (sometimes mistakenly called Noonans Syndrome) is so called after Dr. Jaqueline Noonan (a children’s heart specialist who identified the syndrome). Noonan Syndrome is also known as the following:
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Ullrich-Noonan Syndrome
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Male Turner Syndrome
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Female Pseudo-Turner Syndrome
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Pseudo-Ullrich-Turner Syndrome
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Turner syndrome in female with X chromosome
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Familial Turner Syndrome
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Noonan-Ehmke Syndrome
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Turner’s Phenotype, karyotype normal
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and Turner-like Syndrome
Noonan Syndrome is a fairly common congenital (present at birth) genetic disorder which can affect either males or females: as many as 1 in 2,500 children are born with the condition.
What Are The Characteristics Of Noonan Syndrome?
As a developmental disorder, Noonans Syndrome is marked by the following:
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irregular facial characteristics
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webbed and short neck
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shortness of stature
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coronary defects
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deformations of the skeleton
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blood clotting problems
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pectus excavatum (chest indentation)
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eye abnormalities
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delayed puberty
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cryptorchidism in males (undescended testicles)
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language and speech problems
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and learning difficulties.
Noonans Syndrome is one of the more common genetic disorders that is strongly connected to congenital heart problems. It is often difficult to diagnose at an early age.
Causes Of Noonans Syndrome
Noonans Syndrome is a condition which arises as a result of genetic mutation. The first specified gene causing Noonan Syndrome is PTPN11, which was documented in 2001: it is anticipated that other genes causing the condition will be identified in the future.
Noonans Syndrome is inherited or acquired in an autosomal dominant pattern. This means that one copy of the particular mutated gene in every cell is enough to cause the syndrome.
Noonan Syndrome And Inheritance
Noonans Syndrome may be inherited from an affected father or mother. It may also occur in some people who have no familial history of the syndrome (a new genetic mutation). In this case this suggests that:
• parents can carry the mutated gene without being affected
• parents can have a “mild” case of Noonans Syndrome which goes unnoticed
Symptoms Of Noonans Syndrome
A medical examination may identify several symptoms that suggest Noonan Syndrome. Some such symptoms might be:
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Signs of congenital heart disease such as ASD (Atrial Septal Defect) and more commonly Pulmonic Stenosis. These symptoms may become apparent through chest x-rays or an ECG (electrocardiogram)
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Cubitus Valgus (arms being held in a irregular manner or unusual angle)
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Epicanthal folds (an extra fold of skin over the eyes)
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Antimongoloid palpebral slant (down-sloping appearance of the eyes)
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or poor coagulation of the blood and low platelet count.
Treatment And Prognosis Of Noonans Syndrome
Unfortunately there is no single and unifying treatment to cure Noonans Syndrome. Treatments that do exist center on the individual problems that result as a consequence of the syndrome as and when they actually arise: for example short stature can be treated with growth hormone.
The prognosis of Noonan Syndrome is highly dependent on the severity and degree of the symptoms that arise as a result of the condition. Some sufferers experience low self-esteem and/or social exclusion through the physical differences that characterize Noonans Syndrome, but having said this many patients can and do lead normal lives.
For further information and help, visit he Noonan Syndrome Support Group Website.
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