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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.

Cleft lip/palate-intestinal malrotation-lethal congenital heart disease association.

Autosomal recessive.

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.

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

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.

Fryns Syndrome: Presents similar features and the presence of diaphragmatic hernia found in more than 90% of patients.

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

McPherson E, Clemens M: Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: A new autosomal recessive condition? Am J Med Genet 62:58, 1996.  [PubMed: 8779326]
Nevin NC, Craig BG, Mullholland HC, et al: Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heat disease in three brothers. Am J Med Genet 73:412, 1997.  [PubMed: 9415467]

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