A gene is a segment of deoxyribonucleic acid (DNA DNA Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more ) and contains the code for a specific protein that functions in one or more types of cells in the body. Genes contain instructions that determine how the body is supposed to look and function. (See Genes and Chromosomes Genes and Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more for a discussion about genetics.)
Noonan syndrome is caused by mutations in certain genes that can be inherited from a parent who has an affected gene. It also can occur spontaneously in a child whose parents do not have an affected gene. One of several different genes may be involved.
Noonan syndrome is relatively common, occurring in about 1 in 1,000 to 2,500 people. Both boys and girls can be affected.
Symptoms of Noonan Syndrome
Children may have webbing of the neck, low-set ears, droopy eyelids, widely spaced eyes, shortened fourth (ring) fingers, a high-arched palate, and heart abnormalities Overview of Heart Defects About one in 100 babies is born with a heart defect. Some are severe, but many are not. Defects may involve abnormal formation of the heart's walls or valves or of the blood vessels that enter... read more . Hearing problems can occur, and intelligence may be impaired. Most affected people are short Growth Hormone Deficiency in Children .
Boys may have underdeveloped or undescended testes Undescended testes Undescended testes (cryptorchidism) are testes that remain in the abdomen or the groin instead of descending into the scrotum. Retractile testes (hypermobile testes) have descended into the... read more . Puberty may be delayed Delayed Puberty Delayed puberty is defined as absence of the start of sexual maturation at the expected time. Most often, children simply develop later than their peers but ultimately develop normally. Sometimes... read more for both boys and girls, and young men with Noonan syndrome may have low levels of testosterone and be infertile. Girls usually begin menstruating somewhat later than unaffected girls, but fertility is typically normal.
Diagnosis of Noonan Syndrome
To confirm the diagnosis of Noonan syndrome, genetic tests are done.
Treatment of Noonan Syndrome
Surgical repair of heart defects
Growth hormone therapy
For boys, sometimes testosterone hormone replacement therapy
There is no cure for Noonan syndrome. However, some specific symptoms and problems caused by the syndrome can be treated. Doctors monitor and repair heart defects as needed.
Growth may be stimulated by treatment with growth hormone. After satisfactory growth, testosterone hormone replacement therapy may help boys whose testes are underdeveloped.
Children suspected of having Noonan syndrome should be evaluated for heart, vision, and hearing problems.