Noonan's Syndrome

Noonan's Syndrome – General Information

The Noonan Syndrome or NS is a relatively common congenial genetic disease that affects both males and females and it is named after Dr. Jacqueline Noonan. It used to be referred to as the male version of the Turner’s syndrome, but the genetic causes of the two diseases are different. The Noonan’s Syndrome is one of the most common genetic syndromes associated with congenital heart disease and is similar in frequency to Down syndrome. As the range and severity of the disease vary very much, the syndrome cannot be identified at an early age. The recurrence in siblings and apparent transmission from parent to child has for a long period of time suggested a genetic defect with autosomal dominant inheritance. A person who suffers from Noonan’s Syndrome has a 50% chance to transmit it to his child. If a child has Noonan’s Syndrome and the parent can not be identified, this means:

• That a parent can carry the gene without being affected, and this is called incomplete penetration.
• That a high proportion of the cases represent new and sporadic mutations
• That the manifestations vary and can be subtle and can pass unrecognized
• That this syndrome is heterogeneous and has more than one similar condition of other diseases.

Even if there have been discovered four genes that lead to this syndrome, the diagnosis of the Noonan syndrome is based on the clinical features and it is made when a doctor feels that his patient has sufficient symptoms that lead to this syndrome.

Noonan's Syndrome Symptoms

Here is a list of the most common symptoms of the Noonan’s Syndrome (the uncommon symptoms of the Noonan’s Syndrome have not been mentioned here, this is why we recommend you to contact you doctor in order to find out if you are suffering from the Noonan’s Syndrome):

• Pulmonary valvular stenosis
• Septal defects: atrial or ventricular
• Heart murmur
• Cardiomyopathy
• Decreased appetite
• Digestive problems
• Frequent or forceful vomiting
• Swallowing difficulties
• Undescended tesicles
• Lymphedema
• Webbed neck
• Clumsiness
• Poor coordination
• Motor, speech and language delays
• Mental retardation
• Learning disabilities
• Severe muscle and joint pain
• Easy bruising
• Blood clotting disorders
• Prolonged activated partial thromboplastne time
• Combined coagulation deficiencies
• Low platelet count
• Von Willebrand disease
• Scoliosis
• Neck spine fusion
• Short stature
• Prominence or depression of breast bone
• Joint contractures or tightness
• Joint hyperextensibility and even looseness
• Winging of the scapula
• Low muscle tone
• Growth retardation
• Large head
• Triangular face shape
• Broad forehead
• Curly hair
• Widely set eyes
• Drooping of the eyelids
• Refractive visual errors
• Inward or outward turning of the eyes, also named strabismus
• Small and upturned nose
• Low set ears
• Incomplete folding ears
• Backward rotated ears
• Chronic otitis
• Difficulties in articulation
• Dental problems
• Poor control of the tongue
• Lymphedema
• Pigmented nevi – the birthmarks

Noonan's Syndrome – Treatment

There has not been yet discovered a treatment for the Noonan’s Syndrome and the available treatments focus on the patient’s symptoms and on the complications that can appear depending on the severity and type. The treatment includes:

• Heart treatment – some drugs can be effective in addressing some kinds of heart problems. If there's a problem with the patient’s heart's valves, surgery can be necessary. The dentist may recommend preventive use of antibiotics prior to dental cleaning or surgeries and the doctor may recommend that the heart function be evaluated periodically.
• Treating low growth rate – the children with Noonan syndrome don't grow at a normal rate. The children should be measured every six to 12 months to make sure they are growing. Noonan’s Syndrome often causes eating difficulties, and children may not be getting adequate nutrition. The doctor will likely be checking the children’s blood chemistry, thyroid function, bone growth and hormone levels. If the children’s growth hormone levels are low, then growth hormone therapy can be a successful treatment option.
• Addressing learning disabilities - A wide range of mental and behavioral issues may appear with this condition. Fortunately, there are many ways of coping with the mild symptoms. If there is early discovery that the children have developmental delays, ask the doctor about infant stimulation programs. Physical and speech therapies are also effective.
• Treatment for neurological problems – if children have signs or symptoms of neurological problems, the doctor may suggest a complete neurological examination that includes a variety of imaging tests to look at the children’s brain. The doctor can prescribe anticonvulsant drugs if the children have seizures.
• Vision treatments - as many people with Noonan’s Syndrome have vision problems, children will need regular eye exams. Most eye issues can be treated only with glasses, but surgery may also be needed for some conditions, such as cataracts.
• Treatment for bleeding and bruising - if the patients have a history of easy bruising or excessive bleeding, they are recommended to avoid aspirin and aspirin-containing products. In some cases, doctors can prescribe drugs that help the blood to clot.
• Treatment for lymphatic problems – even if the lymphatic problems are a less common symptom, the many ways in which they can occur can harden the finding of the problem and then the treatment. Complications usually involve excess fluid that accumulates in various places of the patient’s body. Chronic fluid retention in the patient’s feet and legs is rare, but it may happen, that is why it's extremely important for the patients to take good care of their feet. The fluid can also collect in the space around the heart and lungs. If this happens, the doctor will insert a tube into the patient’s chest to drain the fluid.
• Genitourinary treatment- If your son has undescended testicles at birth (which usually happens in males affected of the Noonan’s Syndrome), the doctor will likely send you to an experienced surgeon to find out whether an injection of human chorionic gonadotrophin or surgery is needed.
• Spinal treatment- Scoliosis can appear in children with Noonan’s Syndrome. Treatment options are: bracing and surgery.
• Treating hearing problems