What is Donnai-Barrow syndrome? Donnai-Barrow syndrome (DBS) is an inherited condition characterized by hearing and vision problems, issues with brain development (agenesis of the corpus callosum), kidney disease, and characteristic facial features. It is caused by harmful genetic changes (variants) in the LRP2 gene. The symptoms of DBS are usually present at birth. Up to 40% of infants may be born with a hole in the muscle of their chest or abdomen (diaphragmatic hernia or omphalocele). Almost all individuals with DBS may have intellectual disability and developmental delay. Many individuals have seizures and heart problems. As individuals with the condition get older, they can develop problems with their kidneys. How common is Donnai-Barrow syndrome? The exact incidence of Donnai-Barrow syndrome is unknown. Less than 100 individuals have been diagnosed worldwide. How is Donnai-Barrow syndrome treated? There is no cure for Donnai-Barrow syndrome. Treatment for the condition is directed at managing an individual's specific symptoms. Common interventions may include hearing aids or cochlear implants for hearing loss, glasses to correct vision and preventative treatments for serious eye problems. Special educational programs for the hearing impaired, vision impaired, and those with intellectual disabilities may be helpful. Seizures are addressed with medications. Surgery may address birth defects related to the heart, abdomen, and diaphragm. What is the prognosis for an individual with Donnai-Barrow syndrome? The prognosis for a child with Donnai-Barrow syndrome is not well known because the condition is so rare. Some individuals with Donnai-Barrow syndrome die within the first year of life due to birth defects. Individuals who survive into adolescence may experience vision and hearing loss as well as intellectual disability. Progressive kidney disease can lead to life-threatening kidney failure in adulthood. Other names forDonnai–Barrow syndrome DBS/FOAR syndrome diaphragmatic hernia-exomphalos-corpus callosum agenesis diaphragmatic hernia-exomphalos-hypertelorism syndrome facio-oculo-acoustico-renal (FOAR) syndrome References Gregg et al., 2021, Genet Med., 23(10):1793-1806, PMID: 34285390 Khalifa et al., 2015, Eur J Med Genet., 58(5):293-9, PMID: 25682901 Longoni et al., 2018, https://www.ncbi.nlm.nih.gov/books/NBK1878/ OMIM: Online Mendelian Inheritance in Man, OMIM [222448], 2016, https://www.omim.org/entry/222448 Pober et al., 2009, Birth Defects Res A Clin Mol Teratol., 2009 85(1):76-81, PMID: 19089858 Stora et al., 2009, Eur J Med Genet., 52(5):341-3, PMID: 19577669