Femoral facial syndrome
Femoral Facial Syndrome
Femoral Facial Syndrome (pronounced: feh-moh-ral fay-shul sin-drohm), also known as FFS, is a rare genetic disorder characterized by underdevelopment of the femur and facial abnormalities.
Etymology
The term "Femoral Facial Syndrome" is derived from the Latin words "femur" meaning thigh bone and "facies" meaning face, which are the two primary areas affected by this syndrome.
Definition
Femoral Facial Syndrome is a rare genetic disorder that primarily affects the development of the femur (the thigh bone) and the face. The syndrome is characterized by underdevelopment (hypoplasia) of the femur and facial abnormalities such as cleft palate, small jaw (micrognathia), and low-set ears.
Symptoms
The symptoms of Femoral Facial Syndrome can vary greatly from person to person. The most common symptoms include:
- Hypoplasia of the femur
- Facial abnormalities such as cleft palate, small jaw (micrognathia), and low-set ears
- Other possible symptoms can include heart defects, kidney abnormalities, and spinal anomalies.
Causes
The exact cause of Femoral Facial Syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in certain genes. Some researchers believe that it may be an autosomal dominant condition, which means that one copy of the altered gene in each cell is sufficient to cause the disorder.
Diagnosis
Diagnosis of Femoral Facial Syndrome is typically made based on a physical examination and the presence of characteristic symptoms. Genetic testing may also be used to confirm the diagnosis and identify any potential genetic mutations.
Treatment
Treatment for Femoral Facial Syndrome is typically supportive and based on the symptoms present in each individual. This can include physical therapy, surgical intervention for skeletal abnormalities, and speech therapy for those with cleft palate.
Related Terms
External links
- Medical encyclopedia article on Femoral facial syndrome
- Wikipedia's article - Femoral facial 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