Cardiocranial syndrome, Pfeiffer type

Cardiocranial syndrome, Pfeiffer type is a rare genetic disorder characterized by specific abnormalities of the skull, hands, feet, and heart. It is a subtype of Pfeiffer syndrome, which is a broader category of craniosynostosis syndromes.

Overview

Cardiocranial syndrome, Pfeiffer type, is a condition that primarily affects the development of the bones in the skull, hands, and feet, as well as the heart. The syndrome is named after the German geneticist Rudolf Pfeiffer, who first described it in 1964. It is a rare disorder, with only a few reported cases worldwide.

Symptoms

The most common symptoms of Cardiocranial syndrome, Pfeiffer type, include craniosynostosis, which is the premature fusion of the skull bones, leading to an abnormal head shape. Other symptoms include broad and deviated thumbs and big toes, short stature, and heart defects. Some individuals may also have mild to moderate intellectual disability.

Causes

Cardiocranial syndrome, Pfeiffer type, is caused by mutations in the FGFR1 or FGFR2 genes. These genes provide instructions for making proteins that are involved in the development and maintenance of bone and brain tissue.

Diagnosis

Diagnosis of Cardiocranial syndrome, Pfeiffer type, is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the FGFR1 or FGFR2 genes.

Treatment

Treatment for Cardiocranial syndrome, Pfeiffer type, is symptomatic and supportive. It may include surgery to correct craniosynostosis and heart defects, physical therapy for hand and foot abnormalities, and educational support for those with intellectual disability.

See also

• Pfeiffer syndrome
• Craniosynostosis
• Genetic disorder

Cardiocranial syndrome, Pfeiffer type Resources
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