Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by abnormalities in the development of the skull (craniofacial dysostosis) and overgrowth (hyperplasia) of the long bones in the arms and legs (diaphyseal hyperplasia).

Symptoms and Signs

The primary symptoms of Craniofacial dysostosis-diaphyseal hyperplasia syndrome include craniosynostosis, which is the premature fusion of the skull bones, and diaphyseal hyperplasia, which is the excessive growth of the long bones. Other symptoms may include facial asymmetry, high forehead, hypertelorism (widely spaced eyes), and a prominent jaw.

Causes

The exact cause of Craniofacial dysostosis-diaphyseal hyperplasia syndrome is currently unknown. However, it is believed to be a genetic disorder, possibly caused by mutations in a yet unidentified gene.

Diagnosis

Diagnosis of Craniofacial dysostosis-diaphyseal hyperplasia syndrome is typically based on the physical symptoms and signs. Imaging studies such as X-rays and CT scans may be used to confirm the diagnosis. Genetic testing may also be performed to identify any potential genetic mutations.

Treatment

Treatment for Craniofacial dysostosis-diaphyseal hyperplasia syndrome is typically focused on managing the symptoms. This may include surgery to correct craniosynostosis and to manage the overgrowth of the long bones. Other treatments may include physical therapy and occupational therapy to help manage any functional difficulties caused by the condition.

See Also

• Craniosynostosis
• Diaphyseal hyperplasia
• Genetic disorder

NIH genetic and rare disease info

• NIH info on Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare disease.

Craniofacial dysostosis-diaphyseal hyperplasia syndrome Resources
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