++
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.
++
++
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]