(Facio-oculo-acoustico-renal syndrome, FOAR syndrome, diaphragmatic hernia, omphalocele and agenesis of the corpus callosum syndrome)

Rare. Autosomal recessive transmission of a mutation of the LRP2 gene coding for megalin, a transmembrane glycoprotein (2q31.1).

Malformative syndrome associating: hypertelorism, severe myopia (sometimes coloboma), sensory deafness, congenital diaphragmatic hernia, and proteinuria (small molecules such as proteins carrying retinol and vitamin D) and agenesis of the corpus callosum with a very large anterior fontanel (sometimes encephalocele). Sometimes omphalocele.

Anesthetic implications: 

congenital diaphragmatic hernia, risk of volvulus of the small bowell; problems related to deafness and ocular pathology (retinal detachment).

References : 

-        Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR. 
Donnai-Barrow syndrome in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. 
Am J Genetics Part A; 2008; 146A: 1842-7

Updated: August 2019