Craniosynostosis-fibular aplasia syndrome

Craniosynostosis-fibular aplasia syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis) and the absence or underdevelopment of the fibula (fibular aplasia). This syndrome is also associated with a range of other physical abnormalities.

Symptoms and Signs

The primary symptoms of Craniosynostosis-fibular aplasia syndrome include craniosynostosis, which is the premature fusion of the skull bones, and fibular aplasia, which is the absence or underdevelopment of the fibula. Other symptoms may include facial asymmetry, micrognathia (small lower jaw), microcephaly (small head size), and brachydactyly (short fingers and toes). Some individuals may also have intellectual disability and growth retardation.

Causes

The exact cause of Craniosynostosis-fibular aplasia syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome.

Diagnosis

Diagnosis of Craniosynostosis-fibular aplasia syndrome is typically based on the presence of characteristic physical abnormalities. Genetic testing may also be used to confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for Craniosynostosis-fibular aplasia syndrome is typically focused on managing the individual symptoms. This may include surgery to correct craniosynostosis, physical therapy to improve mobility, and special education services for those with intellectual disability.

Prognosis

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

See Also

• Craniosynostosis
• Fibular aplasia
• Genetic disorder
• Autosomal recessive inheritance

Craniosynostosis-fibular aplasia syndrome Resources
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