Noonan Syndrome
Top Contributors - Kirenga Bamurange Liliane, Lucinda hampton, Chelsea Mclene, Rucha Gadgil, Leana Louw, Naomi O'Reilly and Kim Jackson
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 occurrs 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
- thenRIFT1 hene
- the KRAS
Clinically Presentation
add text here relating to clinically relevant anatomy of the condition
Mechanism of Injury / Pathological Process[edit | edit source]
add text here relating to the mechanism of injury and/or pathology of the condition
Clinical Presentation[edit | edit source]
add text here relating to the clinical presentation of the condition
Diagnostic Procedures[edit | edit source]
add text here relating to diagnostic tests for the condition
Outcome Measures[edit | edit source]
add links to outcome measures here (see Outcome Measures Database)
Management / Interventions[edit | edit source]
add text here relating to management approaches to the condition
Differential Diagnosis[edit | edit source]
add text here relating to the differential diagnosis of this condition
Resources[edit | edit source]
add appropriate resources here
