NOONAN SYNDROME

Description

  • A genetic disorder
  • Causes a wide range of distinctive features and health problems
  • Causes many parts of the body to develop abnormally

Symptoms

  • Delayed puberty
  • Down-slanting or wide-set eyes
  • Hearing loss (varies)
  • Low-set or abnormally shaped ears
  • Mild intellectual disability (only in about 25% of cases)
  • Sagging eyelids (ptosis)
  • Short stature
  • Small penis
  • Undescended testicles
  • Unusual chest shape (most often a sunken chest called pectus excavatum)
  • Webbed and short-appearing neck
  • Kidney problems

Causes

  • Cause of Noonan syndrome is a mutation in a particular gene
  • Mutation can be inherited from a parent who carries the defective gene
  • New mutation in children

Diagnostic Tests

  • Platelet count
  • Blood clotting factor test
  • Electrocardiogram (EKG)
  • Chest X-ray
  • Echocardiogram (ECG)
  • Hearing tests
  • Growth hormone levels
  • Genetic testing

Treatment

  • No single treatment, symptoms are treated
  • Heart treatment
  • Treating low growth rate
  • Addressing learning disabilities
  • Vision treatments
  • Treatment for bleeding and bruising
  • Treatment for lymphatic problems
  • Treatment of genital and urinary tract problems

Medications

  • Beta-blockers
  • Somatropin

Prevention

  • No preventive measure are available as it is a genetic disorder
  • Undergo genetic counseling before having children

Lifestyle Management

  • Join support groups
  • Have a positive outlook
  • Lead a healthy life
  • talk openly about the symptoms
  • Stay in constant touch with the doctors