Some children experience slow growth due to factors such as diet, emotional stress, or disease. For a small number of children and adults, their short stature is caused by a medical condition that either slows or stops growth. Norditropin® is used to treat some of these conditions.
What is Noonan syndrome?
Noonan syndrome is a rare genetic disorder that affects both boys and girls. About 1 in 1,000 to 2,500 infants is born with Noonan syndrome, which can cause congenital heart disease, distinctive facial features, short stature, and other conditions.
What causes Noonan syndrome?
What are the physical features of Noonan syndrome?
Up to 83% of patients with Noonan syndrome have short stature. At birth, a child with Noonan syndrome may have normal weight and length, but during childhood and/or puberty they may fall behind in height, weight, and bone age or maturation compared with the general population.
Certain physical traits and conditions may occur in Noonan syndrome. Some children with Noonan syndrome may have many of these conditions, while others have just a few:
Abnormal bruising or bleeding
Unusual facial features (which may fade as a child grows), including wide-set eyes, down-slanting eyes, drooping eyelids, arched eyebrows, and low-set ears with forward-facing lobes
Delay in puberty
Chest and skeletal deformities
A low hairline at the back of the neck
Learning disability or mild retardation
Undescended testicles in males at birth
Brilliant blue or blue-green eyes
Feeding difficulties in infancy
Frequent or forceful vomiting in infancy
Everyone is different: Some children may have many of these features, while others have just a few. Because children with Noonan syndrome usually have more than one of these traits, most likely they will need to see other medical specialists, like a heart specialist (cardiologist) or an eye specialist (ophthalmologist).
What about puberty?
In children with Noonan syndrome, puberty can be delayed by about 2 years. The pubertal growth spurt is often reduced or absent. Bone development may also be delayed by 2 years.
How is Noonan syndrome diagnosed?
Today, there is no simple test that can diagnose a boy or girl with Noonan syndrome. The diagnosis is first made by recognizing the physical features of Noonan syndrome. After evaluation, a geneticist may confirm a diagnosis of Noonan syndrome with genetic testing.
After the diagnosis.
If your child is diagnosed with Noonan syndrome, the pediatric endocrinologist may recommend a treatment such as growth hormone. And, they’ll probably ask to schedule regular follow-up visits with the appropriate specialist, to monitor your child’s growth, and other conditions.
Parents and caregivers can find community, support, and educational resources through growth-related patient advocacy groups. Visit the Noonan Syndrome Foundation to learn more.
Learn more about what life is like for families whose children are being treated with Norditropin®.