Facial femoral syndrome

Facial femoral syndrome is a rare genetic disorder characterized by abnormalities in the structure of the face and the femur. The syndrome is also known as FFS or Faciofemoral dysplasia.

Symptoms

The primary symptoms of Facial femoral syndrome include craniofacial abnormalities such as a prominent forehead, wide-set eyes, and a small jaw. Additionally, individuals with this syndrome often have a short, broad neck and low-set ears. The femoral abnormalities associated with this syndrome typically involve a shortened femur, which can result in short stature.

Causes

Facial femoral 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 for a child to be affected.

Diagnosis

Diagnosis of Facial femoral syndrome is typically made based on the presence of characteristic symptoms. Genetic testing may also be used to confirm the diagnosis.

Treatment

There is currently no cure for Facial femoral syndrome. Treatment is typically focused on managing symptoms and may include physical therapy, occupational therapy, and surgical interventions to address skeletal abnormalities.

Prognosis

The prognosis for individuals with Facial femoral syndrome varies depending on the severity of symptoms. With appropriate management, many individuals with this syndrome can lead productive lives.

See also

• Genetic disorders
• Craniofacial abnormalities
• Autosomal recessive inheritance

References

Facial femoral syndrome Resources
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