What is Noonan Syndrome?
Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations. Eye abnormalities occur in up to 95 percent of people with Noonan syndrome. Problems with language and speech are common. Puberty for both males and females with Noonan syndrome is usually delayed for approximately two years. Most males with this disorder have undescended testicles (cryptorchidism) which can lead to infertility (inability to father a child) later in life. The majority of children diagnosed with Noonan syndrome have normal intelligence, but a small percentage have special educational needs, and some have intellectual disability.
• Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis. • Noonan Syndrome: A cardiofacial syndrome with a variable phenotype, which may change with age, many characteristics of which overlap those of the Turner syndrome. Short stature and mild mental retardation are the main features of this syndrome. Webbed neck, heart defects, chest deformities, characteristic facial features, and other abnormalities, and occasional hyperpyrexia may be associated. Cardiofaciocutaneous and Noonan syndromes are sometimes considered the same entity. Source – Diseases Database Noonan Syndrome is listed as a “rare disease” by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Noonan Syndrome, or a subtype of Noonan Syndrome, affects less than 200,000 people in the US population. Source – National Institutes of Health (NIH) Ophanet, a consortium of European partners, currently defines a
Noonan syndrome (NS) is an uncommon congenital (present from birth) developmental abnormality with widespread effects that occurs in both sexes and without any chromosomal defects. These people are short in stature, and have a wide neck, broad chest, abnormal heart valves, slanted eyes, low set ears, depressed bridge of the nose, broad tip of the nose and some mental retardation. It is believed that between approximately 1 in 1,000 and 1 in 2,500 children worldwide are born with NS. It is one of the most common genetic syndromes associated with congenital heart disease, similar in frequency to Down syndrome. However, the range and severity of features can vary greatly in patients with NS. Therefore, the syndrome is not always identified at an early age. Surgical correction of the heart problems and plastic surgery to cosmetic deformities are possible, but although there is no cure, sufferers have a relatively normal life expectancy.
Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations. Eye abnormalities occur in up to 95 percent of people with Noonan syndrome. Problems with language and speech are common. Puberty for both males and females with Noonan syndrome is usually delayed for approximately two years. Most males with this disorder have undescended testicles (cryptorchidism) which can lead to infertility (inability to father a child) later in life. The majority of children diagnosed with Noonan syndrome have normal intelligence, but a small percentage have special educational needs, and some have mental retardation.
Noonan syndrome is a rare genetic disorder that affects around 1 in 2000 people. The disorder was named after American child cardiologist Dr. Jacqueline Noonan. In 1963. Dr, Noonan noticed that many of her child patients with narrow pulmonary valves also had similar facial features. She also became aware that they were all around the same short height. The symptoms of Noonan syndrome are wide ranging. They are not all displayed by all sufferers, and they vary in severity from person to person. Symptoms include both heart defects and physical irregularities. The facial symptoms of Noonan syndrome can include large, downward slanting eyes or drooping eyes. The eyes may also be widely spaced, and the nasal bridge may be flat. The neck may be short, and there may be extra folds of skin on both sides at the back of the neck. The ears may also appear to be set low on the head. Almost 80% of children diagnosed with Noonan syndrome have heart defects. These defects may include a hole in the up
