Noonan Syndrome: Difference between revisions
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== Definition == | == Definition == | ||
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: | Noonan Syndrome (NS) is an autosomal dominant condition or a genetic mutation 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 | * 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 | * heath problems such as short stature | ||
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* physical problems | * physical problems | ||
* and possible developmental delays | * and possible developmental delays | ||
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. | 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. | ||
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== Causes == | == Causes == | ||
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 Noonan Syndrome is caused by a mutation of a gene or a faulty gene that is usually inherited from one of the parents. The most commonly altered genes are: | ||
* the PTPN11 gene | * the PTPN11 gene | ||
* the SOS1 gene | * the SOS1 gene | ||
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Even though the symptoms are usually the same for all different genes, two of them are associated to specific conditions. | Even though the symptoms are usually the same for all different genes, two of them are associated to specific conditions. | ||
'''The faulty | '''The faulty PTPN11''' gene is commonly associated with pulmonary stenosis characterized by a narrowed heart valve and '''the faulty RAF1''' gene, associated with cardiomyopathy which is a disease of the heart muscle. | ||
== Epidemiology / Pathological Process == | |||
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. | |||
== | == Clinical Presentation == | ||
NS is most often characterized by facial and musculoskeletal features. Although these features are more present during early childhood, they change over the time and appear less characteristic during adulthood: | |||
* In the newborn infant, the head is large with a small face, a tall forehead, wide-spaced eyes, short nose, low set ears, and a broad or webbed neck | |||
* Pectus deformity of the chest with pectus carinatum (protrusion of sternum an rib) and pectus excavatum (hollow chest) | |||
* Kyphosis | |||
* Scoliosis | |||
* Cubitus valgus (outward deviation of the elbows) | |||
* Rounded shoulders | |||
* Rib abnormalities | |||
* Genu valgum ( Knock knees) | |||
Many infants with NS also have heart (cardiac) defects such as | |||
* Pulmonary valvular stenosis | |||
* Hypertrophic cardiomyopathy | |||
* Septal defects | |||
Individuals with NS may also present less common problems including: | |||
* Leaning disability: children with NS tend to often have a mild learning disability due to a lower IQ average | |||
* Feeding problems: | |||
<br> | |||
== Diagnostic Procedures == | == Diagnostic Procedures == | ||
Revision as of 18:52, 18 September 2020
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Definition[edit | edit source]
Noonan Syndrome (NS) is an autosomal dominant condition or a genetic mutation 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 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 of 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 by a narrowed heart valve and the faulty RAF1 gene, associated with cardiomyopathy which is a disease of the heart muscle.
Epidemiology / Pathological Process[edit | edit source]
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.
Clinical Presentation[edit | edit source]
NS is most often characterized by facial and musculoskeletal features. Although these features are more present during early childhood, they change over the time and appear less characteristic during adulthood:
- In the newborn infant, the head is large with a small face, a tall forehead, wide-spaced eyes, short nose, low set ears, and a broad or webbed neck
- Pectus deformity of the chest with pectus carinatum (protrusion of sternum an rib) and pectus excavatum (hollow chest)
- Kyphosis
- Scoliosis
- Cubitus valgus (outward deviation of the elbows)
- Rounded shoulders
- Rib abnormalities
- Genu valgum ( Knock knees)
Many infants with NS also have heart (cardiac) defects such as
- Pulmonary valvular stenosis
- Hypertrophic cardiomyopathy
- Septal defects
Individuals with NS may also present less common problems including:
- Leaning disability: children with NS tend to often have a mild learning disability due to a lower IQ average
- Feeding problems:
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
