Donnai-Barrow syndrome (DBS) is a rare autosomal recessive disorder marked by the presence of diaphragmatic hernia, exomphalus, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness. In addition, DBS is characterized by facial dysmorphism, including severe hypertelorism with downslanting palpebral fissures, short bulbous nose, and posteriorly rotated ears. Some patients also have iris coloboma, retinal detachment, and intestinal malrotation. Intellectual impairment is variable. In rare cases, proteinuria is present. This condition is not life-threatening, but the functional prognosis depends on the degree of visual and hearing handicap.
Mutations in the LRP2 gene are known to cause Donnai-Barrow syndrome. LRP2 gene encodes for megalin protein, which is a multi-ligand receptor that regulates levels of diverse circulating compounds.
Gripp et al. (1997) described a male infant, the offspring of first-cousin parents from Saudi Arabia, who had wide anterior fontanel and metopic suture with frontal bossing, hypertelorism, downslanting palpebral fissures, bilateral iris coloboma, omphalocele, and bilateral absence of the diaphragm with herniation of internal organs causing pulmonary hypoplasia and death. Autopsy also showed intestinal malrotation.
[See: United Arab Emirates > Kantarci et al., 2007].