Noonan Syndrome: Autosomal dominant congenital disorder

Noonan syndrome is a disorder that comprises unusual facial characteristics, short stature, and heart defects exist at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.

Noonan syndrome is a genetic disorder caused by changes in one of several autosomal dominant genes. Noonan syndrome. It is also known as autosomal dominant congenital disorder.

Symptoms:

·    Distinctive facial appearance

·    Short stature

·    Congenital heart defect

·    A broad or webbed neck

·    Minor eye problems such as strabismus

·    Bleeding problems such as a history of abnormal bleeding or bruising

·    An abnormal chest shape

·    Developmental delay of varying degrees, but usually mild

·    Cryptorchidism

Heart diseases associated with Noonan syndrome:

·    Valve disorders

·    Hypertrophic cardiomyopathy

·    Structural defects of the heart

·    Irregular heart rhythm

Risk factors:

Parent with Noonan Syndrome has 50% chance of passing defective gene to the half spring. The half spring who receives the inherited gene may have fewer or more symptoms than the parent.

Complications of Noonan Syndrome:

Developmental delays

Bleeding and bruising

Lymphatic complications

Urinary tract complications

Fertility issues

Increased risk of cancer

Diagnosis of Noonan Syndrome:

The diagnosis of Noonan syndrome is based on key signs and symptoms. Diagnosis can often be difficult because of the details of some of the features corresponding with the condition.

Individuals with Noonan syndrome have normal chromosome sets. Only Four genes - PTPN11, SOS1, RADF1 and KRAS are associated with Noonan syndrome. Approximately 50 percent of PTPN11 gene variation, 20 percent of SOS1 gene variation causes Noonan Syndrome. 10-15 of Noonan Syndrome is seen in Mutations in the RAF1 gene. About 5 percent of people with Noonan syndrome have mutations in the KRAS gene and usually have atypical form of the disorder. The cause of Noonan syndrome in the remaining 10 to 15 percent of people with this disorder is not yet known.

Treatment:

As Noonan syndrome is genetic disorder, there is no cure. Treatment intends to manage the associated symptoms and complications, so it varies for each individual.

Potential treatments include:

·    Heart conditions:

Medication or surgery, or both, may be required to manage heart defects occurred by Noonan Syndrome.

·    Growth issues:

Height and weight should be monitored regularly during childhood and adolescence. Blood tests may be needed, and growth hormone therapy is suggested.

·    Learning difficulties:

Infant stimulation programs, physical therapy, speech therapy, and educational interventions may be necessary to aid learning problems in childhood.

·    Excessive bleeding and bruising:

Drugs to help blood clotting may be prescribed, and patients may be recommended to avoid aspirin products.

·    Undescended testicle:

Surgery may be required if one or both testicles fail to move into position.

·    Eye and ear issues:

Regular vision and hearing examinations of eye health and hearing may be suggested. Glasses, contact lenses, and hearing aids will be recommended based on the condition.