Donnai-Barrow syndrome (DBS) is a rare multi-system congenital condition with distinctive craniofacial features.
High grade myopia with increased risk of retinal detachment and progressive hearing loss are characteristic features of this condition. Agenesis of the corpus callosum (ACC) is frequent. Congenital diaphragmatic hernia (CDH) and/or omphalocele are present in almost half of affected individuals and may be identified prenatally by ultrasound examination. Facio-oculo-acoustico-renal (FOAR) syndrome describes an allelic condition without ACC, CDH, and omphalocele. Given the considerable phenotypic overlap, DBS and FOAR are considered to be different manifestations of the same condition.
Birth prevalence is unknown. The inheritance pattern is autosomal recessive with mutations in the LRP2 gene. Many reported cases are the offspring of consanguineous unions. No genotype to phenotype correlation currently exists, e.g. (1) the degree of vision and hearing loss and (2) the presence of CDH or omphalocele cannot be predicted and considerable intrafamilial phenotype variability occurs.