/Donnai-Barrow syndrome

Donnai-Barrow syndrome

Rare Disease

MONDO:0009104

Also Known As

DBS/FOAR syndromeDonnai-Barrow syndromeFOAR syndromeHolmes-Schepens syndromediaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuriadiaphragmatic hernia-exomphalos-hypertelorism syndromediaphragmatic hernia-hypertelorism-myopia-deafness syndromefacio-oculo-acoustico-renal syndromefaciooculoacousticorenal syndromesyndrome of ocular and facial anomalies, telecanthus and deafnessdiaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuriadiaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria

Definition

Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.