Cleft Lip/palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease

McPherson and Clemens (1996) described a possibly 'new' autosomal recessive disorder in a chromosomally normal brother and sister who shared a lethal pattern of anomalies, including bilateral cleft lip and palate, hypertelorism, flat facial profile, flat occiput, complex congenital heart defect, and malrotation of the intestine. The male was large for gestational age, while his sister was normally grown. The girl had bifid thumbs, but the boy had only minor hand anomalies. The boy was initially thought to have Simpson-Golabi-Behmel syndrome (SGBS; 312870) on the basis of macrosomia, cleft lip and palate, tongue anomaly, short broad hands, and visceromegaly with hypertrophic pancreatic islets. After the birth of the severely affected sister, SGBS seemed unlikely because that condition is X-linked. Fryns syndrome (229850) was considered unlikely because diaphragmatic hernia is found in over 90% of patients with that syndrome. Robinow syndrome (180700) was also considered, but the severity of the heart defects was considered atypical and neither patient had hemivertebrae or short arms.

Nevin et al. (1997) described 3 brothers with anomalies similar to those in the brother and sister reported by McPherson and Clemens (1996). Apart from the bilobed tongue, malrotation of the intestine, and bifid thumbs, they showed bilateral cleft lip and palate, hypertelorism, flat face, flat occiput, and complex congenital heart defects.