McPherson-Clemens Syndrome

At a glance

It is a very rare, autosomal recessive disorder characterized by bilateral cleft lip and palate, hypertelorism, flat facial profile, bifid thumbs, flat occiput, complex congenital heart defect, and malrotation of the intestine.

Synonym

Cleft Lip/Palate-Intestinal Malrotation-Lethal Congenital Heart Disease Syndrome.

History

This medical condition was first described in 1996 by E. McPherson and M. Clemens.

Incidence

The exact incidence remains unknown.

Genetic inheritance

Autosomal recessive.

Clinical aspects

The clinical features of the syndrome include the association of bilateral cleft lip and palate with severe and atypical congenital heart defect. Other clinical features are hypertelorism, flat facial profile (flat face, flat occiput), and malrotation of the intestine. All patients are affected with complex congenital heart defects. Three patients had bilobed tongues, bifid thumbs, and bilateral cleft lip and palate.

Precautions before anesthesia

Complete evaluation of the cardiovascular system must be done, and a cardiology consultation (if possible) should be obtained.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation may be difficult in the presence of dysmorphic facial features. The most challenging considerations are those associated with congenital heart defect.

Other conditions to be considered

• ☞Fryns Syndrome: Medical condition that is characterized with similar features but within association the presence of diaphragmatic hernia in more than 90% of affected patients.

• ☞Robinow Syndrome: Similar presentation except for the severity of heart defects. Other clinical features include hemivertebrae or short arms.

References