Cole carpenter syndrome

Cole-Carpenter syndrome is a rare genetic disorder characterized by various skeletal abnormalities, including craniosynostosis and bone fragility. It was first described by Cole and Carpenter in 1987.

Symptoms and Signs

The primary symptoms of Cole-Carpenter syndrome include craniosynostosis, which is the premature fusion of the skull bones, and bone fragility leading to frequent fractures. Other symptoms may include proptosis (bulging eyes), blue sclera (a bluish coloration of the whites of the eyes), and hearing loss. Some individuals may also have dental abnormalities, such as delayed tooth eruption or malocclusion (misalignment of the teeth).

Causes

Cole-Carpenter syndrome is caused by mutations in the P4HB and SEC24D genes. These genes are involved in the process of protein folding, which is essential for the proper functioning of proteins. Mutations in these genes disrupt protein folding, leading to the production of misfolded proteins that can interfere with various cellular functions, including bone development and maintenance.

Diagnosis

The diagnosis of Cole-Carpenter syndrome is based on the presence of characteristic clinical features, such as craniosynostosis and bone fragility. Genetic testing can confirm the diagnosis by identifying mutations in the P4HB or SEC24D genes.

Treatment

There is currently no cure for Cole-Carpenter syndrome. Treatment is symptomatic and supportive, and may include surgery to correct craniosynostosis, physical therapy to improve mobility and strength, and management of fractures and other skeletal complications.

Prognosis

The prognosis for individuals with Cole-Carpenter syndrome varies depending on the severity of symptoms. Some individuals may have a normal lifespan, while others may experience life-threatening complications due to severe bone fragility and other health problems.

See Also

• Genetic disorder
• Craniosynostosis
• Protein folding

NIH genetic and rare disease info

• NIH info on Cole carpenter syndrome

Cole carpenter syndrome is a rare disease.

Cole carpenter syndrome Resources
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