What is Nunes disease?
What is Nunes disease?
Overview. Noonan syndrome is a genetic disorder that prevents normal development in various parts of the body. A person can be affected by Noonan syndrome in a wide variety of ways. These include unusual facial characteristics, short stature, heart defects, other physical problems and possible developmental delays.
What causes Noonan’s disease?
Noonan syndrome is caused by a faulty gene, which is usually inherited from one of the child’s parents. There’s no evidence to suggest the genetic fault is caused by environmental factors, such as diet or exposure to radiation.
Is Noonan syndrome rare?
Noonan syndrome is a rare genetic disorder. If you have it, you might have certain identifiable facial features, short height, and unusual chest shape. You may also have heart defects. It can cause a wide range of other physical and developmental symptoms that usually start at birth.
What is another name for Noonan syndrome?
Other names. Male Turner syndrome, Noonan–Ehmke syndrome, Turner-like syndrome, Ullrich–Noonan syndrome.
What is Noonan syndrome life expectancy?
Life expectancy with Noonan syndrome is generally normal, but there may be health problems that need to be addressed with medical or surgical attention. Bleeding can result in blood loss, which can cause symptoms of fatigue.
What is Sotos?
Sotos syndrome is a disorder characterized by a distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development of mental and movement abilities. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin.
What is a webbed neck?
Definition. A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome. [ from NCI]
What is the karyotype?
A karyotype is an individual’s collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual’s chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes.
What is Tyrosinemia disease?
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.
Are there any rare diseases you have never heard of?
You might not have heard of Jumping Frenchman of Maine or Hailey-Hailey Syndrome, but these diseases, syndromes and disorders don’t feel ‘rare’ to the people and families afflicted with them. In fact, there are thousands of people who are deeply affected by the 1,000+ diseases covered in the National Organization for Rare Disorders (NORD) database.
How is nocardiosis a rare and rare disease?
Summary Summary. Nocardiosis is a rare infectious disorder, that affects the brain, skin, and/or lungs. It occurs mainly in people with a weakened immune system but can affect anyone, and about one-third of infected people do not have any immune problems..
Are there any diseases that have no cure?
Polio is a crippling and sometimes deadly infectious disease for which there is no cure. While most people who catch the disease recover fully, in about 1% of cases polio can leave its sufferers with permanent physical disabilities.
What do you need to know about Noonan syndrome?
About Noonan Syndrome. Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage.
