FACES syndrome
FACES Syndrome
FACES syndrome (pronounced: /ˈfeɪsɪz/), also known as FibroAdipose Vascular Anomaly (FAVA), is a rare medical condition characterized by a combination of symptoms and physical features. The acronym FACES stands for Facial anomalies, Anemia, Cardiac defects, Endocrine abnormalities, and Skeletal abnormalities.
Etymology
The term "FACES syndrome" is an acronym derived from the initial letters of the five main features of the syndrome. The term was first used in medical literature in the 1980s.
Symptoms and Signs
The symptoms of FACES syndrome can vary greatly from one individual to another. The most common features include:
- Facial anomalies: These can include a wide range of abnormalities such as micrognathia (small jaw), microcephaly (small head), and hypertelorism (wide-set eyes).
- Anemia: A condition characterized by a lower than normal number of red blood cells or a lack of sufficient hemoglobin.
- Cardiac defects: These can include a wide range of heart abnormalities such as congenital heart defects and arrhythmias.
- Endocrine abnormalities: These can include problems with the body's hormone-producing glands such as the thyroid, adrenal glands, and pituitary gland.
- Skeletal abnormalities: These can include a wide range of bone and joint problems such as scoliosis, osteoporosis, and arthrogryposis.
Diagnosis
Diagnosis of FACES syndrome is based on a thorough clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include genetic testing, imaging studies, and laboratory tests.
Treatment
Treatment of FACES syndrome is symptomatic and supportive. This may include surgery to correct physical abnormalities, medication to manage symptoms, and various therapies to help improve quality of life.
Prognosis
The prognosis for individuals with FACES syndrome varies greatly depending on the severity of the symptoms and the individual's overall health. With appropriate treatment and management, many individuals with FACES syndrome can lead fulfilling lives.
External links
- Medical encyclopedia article on FACES syndrome
- Wikipedia's article - FACES syndrome
This WikiMD dictionary 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