cranioacromelic

Cranioacromelic is a term used to describe a rare genetic skeletal dysplasia. It is characterized by a specific combination of skeletal abnormalities. The prefix "cranio" refers to the skull, and "acromelic" refers to the extremities, including the hands and feet. Individuals with cranioacromelic dysplasia often exhibit a small head with a disproportionately large face. The long bones of the arms and legs are typically shortened, and there may be significant abnormalities in the hands and feet, such as short fingers and toes.

This condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected. Genetic testing can be used to identify the specific gene mutation responsible for cranioacromelic dysplasia. The diagnosis is usually made based on characteristic physical features and radiographic findings. Management focuses on supportive care and addressing specific complications that may arise, such as respiratory difficulties or orthopedic issues. The prognosis can vary depending on the severity of the skeletal involvement and the presence of any associated medical conditions. Research into the genetic basis and potential treatments for cranioacromelic dysplasia is ongoing.