Noonan Syndrome
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Definition[edit | edit source]
Noonan Syndrome (NS) is an autosomal dominant condition that prevents the normal development of different parts of the body. Noonan Syndrome is a genetic condition that affects people in so many ways including:
- distinctive facial features such as broad or webbed neck, drooping eyelids and a wider-than-usual distance between the eyes
- heath problems such as short stature
- chest deformity,
- congenital heart disease
- pulmonary stenosis,
- physical problems
- and possible developmental delays
The condition is present from before birth, although milder cases may not be diagnosed until a child gets older. It has a prevalence estimated at 1 in 1000 to 1 in 2500 live births.
The eponym “Noonan syndrome” was adopted in recognition of Dr. Jacqueline Noonan who was the first to indicate that this condition occurs in both genders, was associated with normal chromosomes, included congenital heart defects, and could be familial.
Dr. Jacqueline Noonan was the first doctor to study this condition was associated with and noticed that it affects both genders
Causes[edit | edit source]
The Noonan Syndrome is caused by a mutation of a gene or a faulty gene that is usually inherited from one the parents. The most commonly altered genes are:
- the PTPN11 gene
- the SOS1 gene
- the RIFT1 gene
- the KRAS
Even though the symptoms are usually the same for all different genes, two of them are associated to specific conditions.
The faulty PTPN11 gene is commonly associated with pulmonary stenosis characterized a narrowed heart valve and the faulty RAF1 gene is associated with cardiomyopathy which is a disease of the heart muscle.
Clinically Presentation
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Mechanism of Injury / Pathological Process[edit | edit source]
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Clinical Presentation[edit | edit source]
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Diagnostic Procedures[edit | edit source]
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Outcome Measures[edit | edit source]
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Management / Interventions[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Resources[edit | edit source]
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