Noonan Syndrome

Medical Services » Noonan Syndrome

Noonan syndrome is a rare genetic disorder that affects the physical development of children.  With early attention and appropriate medical care, most children with Noonan syndrome reach adulthood and live healthy independent lives.

Symptoms of Noonan Syndrome

The most common symptoms of Noonan syndrome are unusual facial development and short stature.  The condition can lead to developmental delays, heart defects, and other physical challenges.

Other symptoms include:

• Abnormal bleeding
• Broad forehead
• Low-set ears
• Pale irises
• Short neck
• Skeletal malformations
• Small lower jaw
• Widely spread eyes

Noonan syndrome is typically present from birth, and symptoms vary greatly from person to person.

Complications of Noonan Syndrome

Noonan syndrome is accompanied by a variety of physical complications. Infants may experience feeding difficulties and may have been born with (congenital) related heart disease.

As children grow, they may experience one or more of the following:

• Bone marrow problems
• Growth delays
• Eye problems
• Hearing problems
• Learning difficulties
• Lymphatic conditions
• Male infertility
• Musculoskeletal abnormalities
• Skin conditions
• Urinary tract complications.

Structural abnormalities in the kidneys may increase the risk of urinary tract infections, and in some individuals with Noonan syndrome, there is an increased risk of tumors and various types of cancer, such as leukemia.

Causes of Noonan Syndrome

Noonan syndrome is a genetic disorder caused by a genetic mutation or abnormality of one or more genes.  The condition may be inherited but can also occur randomly due to an altered gene at conception.

Genes play a key role in the formation of tissues through the body, thus mutated genes potentially cause a variety of physical complications.

Diagnosis and Treatment

Diagnosis

Noonan syndrome is diagnosed by the physical signs and symptoms experienced by the individual.  Subtle physical traits of the condition make the diagnosis more difficult in infants; however, genetic testing can confirm the diagnosis.

The expertise of Dr. Joshua Smith, our pediatric endocrinology specialist, will determine an accurate diagnosis through a comprehensive medical evaluation and testing.

Treatment

Since Noonan syndrome is a genetic disorder stemming from mutated or abnormal genes, there is no cure.  However, continual treatment is necessary to manage the related complications.  Treatments vary by individual and focus on the affected physical difficulties.

Pediatric Endocrinology Specialist

Dr. Smith is the region’s only pediatric endocrinologist and is specifically trained to properly diagnose and treat Noonan syndrome.

If your child is experiencing any of the symptoms or conditions above, call Dr. Joshua Smith for an appointment, or fill out the form below.