Faces syndrome

Faces syndrome is a rare genetic disorder characterized by a unique combination of physical and developmental abnormalities. The term "Faces" is an acronym that stands for the five main features of the syndrome: Facial dysmorphism, Anemia, Cardiac defects, Endocrine abnormalities, and Short stature.

Symptoms and Signs

The symptoms of Faces syndrome can vary greatly from one individual to another. However, the five main features of the syndrome are:

• Facial dysmorphism: This refers to unusual facial features, such as a broad forehead, wide-set eyes, a small chin, and low-set ears.

• Anemia: This is a condition in which the body does not have enough healthy red blood cells to deliver adequate oxygen to the body's tissues.

• Cardiac defects: These are problems with the structure of the heart that are present at birth. They can range from simple conditions that cause no symptoms to complex defects that are life-threatening.

• Endocrine abnormalities: These are problems with the body's endocrine system, which produces hormones that regulate metabolism, growth and development, tissue function, sexual function, reproduction, sleep, and mood.

• Short stature: This refers to a height that is significantly below the average height for a person's age and sex.

Causes

Faces syndrome is a genetic disorder, which means it is caused by abnormalities in a person's genes. It is believed to be inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene in order for a child to be affected.

Diagnosis

Diagnosis of Faces syndrome is based on the presence of the five main features of the syndrome. Genetic testing may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Faces syndrome. Treatment is focused on managing the symptoms and improving the quality of life for individuals with the syndrome. This may include medications to treat anemia and cardiac defects, hormone therapy for endocrine abnormalities, and physical therapy to help with growth and development.

See also

• Genetic disorder
• Anemia
• Cardiac defects
• Endocrine abnormalities
• Short stature

NIH genetic and rare disease info

• NIH info on Faces syndrome

Faces syndrome is a rare disease.

Faces syndrome Resources
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