Fibular aplasia-ectrodactyly syndrome

Fibular aplasia-ectrodactyly syndrome is a rare genetic disorder characterized by the absence of the fibula (one of the bones in the lower leg), and the presence of ectrodactyly (a condition where the digits of the hand or foot are fused together or missing). This syndrome is also known as FAE syndrome.

Etiology

The exact cause of fibular aplasia-ectrodactyly syndrome is unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in certain genes. The syndrome is inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene for a child to be affected.

Symptoms

The primary symptoms of fibular aplasia-ectrodactyly syndrome are the absence of the fibula and the presence of ectrodactyly. Other symptoms may include limb abnormalities, such as clubfoot or syndactyly (fusion of the digits), and craniofacial abnormalities, such as cleft palate or micrognathia (small jaw).

Diagnosis

Diagnosis of fibular aplasia-ectrodactyly syndrome is typically made based on the physical symptoms present at birth. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for fibular aplasia-ectrodactyly syndrome is primarily supportive and focuses on managing the symptoms. This may include physical therapy to improve mobility, surgery to correct limb abnormalities, and speech therapy for those with craniofacial abnormalities.

Prognosis

The prognosis for individuals with fibular aplasia-ectrodactyly syndrome varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals with this syndrome can lead fulfilling lives.

See also

• Genetic disorder
• Ectrodactyly
• Fibula
• Autosomal recessive inheritance

NIH genetic and rare disease info

• NIH info on Fibular aplasia-ectrodactyly syndrome

Fibular aplasia-ectrodactyly syndrome is a rare disease.

Fibular aplasia-ectrodactyly syndrome Resources
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