McCusick syndrome
McCusick Syndrome
McCusick Syndrome (pronunciation: mə-ˈkjuː-zɪk sin-drohm), also known as Cardiofaciocutaneous Syndrome, is a rare genetic disorder that affects various parts of the body, including the heart, face, and skin.
Etymology
The syndrome is named after Dr. Victor A. McKusick, a pioneering American medical geneticist who made significant contributions to the field of genetics. The term "syndrome" is derived from the Greek word "syndromē," which means "concurrence of symptoms."
Definition
McCusick Syndrome is characterized by a range of symptoms, including congenital heart defects, distinctive facial features, and skin abnormalities. It is a part of the RASopathies, a class of genetic syndromes caused by mutations in genes that are part of the RAS/MAPK pathway.
Symptoms
The symptoms of McCusick Syndrome can vary greatly from person to person. However, common symptoms include:
- Congenital heart defects
- Distinctive facial features such as a high forehead, down-slanting eyes, and low-set ears
- Skin abnormalities such as dry, rough, or scaly skin
- Growth delays
- Intellectual disability
Diagnosis
Diagnosis of McCusick Syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is currently no cure for McCusick Syndrome. Treatment is symptomatic and supportive, and may include medications, physical therapy, and educational services.
Related Terms
External links
- Medical encyclopedia article on McCusick syndrome
- Wikipedia's article - McCusick syndrome
This WikiMD article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski