Craniosynostosis–anal anomalies–porokeratosis syndrome

Craniosynostosis–anal anomalies–porokeratosis syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), anal anomalies, and porokeratosis. This condition is also known as CAP syndrome.

Etymology

The term Craniosynostosis–anal anomalies–porokeratosis syndrome is derived from the three main features of the condition: craniosynostosis, anal anomalies, and porokeratosis. The term "craniosynostosis" comes from the Greek words "krani" meaning skull, "syn" meaning together, and "ostosis" meaning condition of the bone. The term "anal anomalies" refers to abnormalities in the structure or function of the anus. The term "porokeratosis" is derived from the Greek words "poros" meaning passage, "kera" meaning horn, and "osis" meaning condition.

Symptoms

The symptoms of Craniosynostosis–anal anomalies–porokeratosis syndrome can vary greatly among individuals. The most common symptoms include:

• Premature fusion of the skull bones (craniosynostosis)
• Anal anomalies such as imperforate anus
• Skin abnormalities (porokeratosis)

Other symptoms may include facial asymmetry, hearing loss, and developmental delay.

Causes

Craniosynostosis–anal anomalies–porokeratosis syndrome is caused by mutations in the SLC25A24 gene. This gene provides instructions for making a protein that is found in the mitochondria, the energy-producing centers of cells. The exact function of this protein is not fully understood, but it is thought to play a role in the transport of certain molecules across the mitochondrial membrane.

Diagnosis

The diagnosis of Craniosynostosis–anal anomalies–porokeratosis syndrome is based on a clinical examination and confirmed by genetic testing. The genetic test involves sequencing the SLC25A24 gene to look for mutations.

Treatment

There is currently no cure for Craniosynostosis–anal anomalies–porokeratosis syndrome. Treatment is symptomatic and supportive, and may include surgery to correct craniosynostosis and anal anomalies, as well as skin treatments for porokeratosis.

See also

• Craniosynostosis
• Anal anomalies
• Porokeratosis
• SLC25A24

Craniosynostosis–anal anomalies–porokeratosis syndrome Resources
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