Char syndrome

Overview

A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.

Symptoms

* Patent ductus arteriosus * Broad forehead * High forehead * Flat profile * Short nose

Diagnosis

This medical information about signs and symptoms for Char syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Char syndrome signs or Char syndrome symptoms. Furthermore, signs and symptoms of Char syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Char syndrome symptoms.

Treatment

Asymptomatic infants with PDA require no immediate treatment. Those with heart failure require fluid restriction, diuretics, and cardiac glycosides to minimize or control symptoms. If these measures can’t control heart failure, surgery is necessary to ligate the ductus. If symptoms are mild, surgical correction is usually delayed until the infant is between ages 6 months to 3 years, unless problems develop. Before surgery, children with PDA require antibiotics to protect against infective endocarditis. Other forms of therapy include cardiac catheterization to deposit a plug or coil in the ductus to stop shunting or administration of indomethacin I.V. (a prostaglandin inhibitor that’s an alternative to surgery in premature neonates) to induce ductus spasm and closure.