Donnai-Barrow syndrome (facial-ocular-acoustic-renal syndrome, FOAR syndrome)

Page most recently updated 7 September 2026

This page focuses on the reported psychiatric associations, which may be the initial presenting manifestation, and on other clinical features that may assist the psychiatrist or primary care physician in identifying the underlying diagnosis, considered through the lenses of the diagnostic lenses framework.

Donnai-Barrow syndrome (facial-ocular-acoustic-renal syndrome, FOAR syndrome) is a rare genetic condition affecting multiple organ systems. It is inherited in an autosomal recessive manner, so absence of a relevant family history does not exclude the diagnosis. A distinctive presentation may include widely spaced eyes, agenesis of the corpus callosum, and congenital diaphragmatic hernia.

It can present with psychiatric features such as behavioural difficulties and ADHD. Autistic features have also been reported, although the evidence for a specific association with autism spectrum disorder (ASD) remains limited. Psychosis has been reported in an individual with Donnai-Barrow syndrome, but this is not an established association. Neuropsychiatric manifestations can persist into adulthood.

From a morphologic lens perspective, other features include (but are not limited to):

  • Macrocephaly

  • Widely spaced eyes

  • Downslanted palpebral fissures

  • Proptosis

  • Depressed nasal bridge

Other characteristic features include developmental delay or intellectual disability, seizures, agenesis or hypoplasia of the corpus callosum, and sensorineural hearing loss. Other important manifestations include high myopia, retinal detachment or retinal dystrophy, low-molecular-weight proteinuria, congenital diaphragmatic hernia or omphalocele, and, in some individuals, hypercalciuria, nephrocalcinosis, or nephrolithiasis.

Early diagnosis is important to identify and manage potentially significant neurological, visual, auditory, renal, developmental, and other systemic complications; to detect and address progressive visual and hearing impairment; and to provide appropriate developmental, educational, behavioural, and multidisciplinary support.

Selected references and further reading — Morphologic lens

Jones KL, Jones MC, del Campo M. Smith's recognizable patterns of human malformation. 8th ed. Philadelphia: Elsevier; 2021.

Reardon W. The bedside dysmorphologist: a guide to identifying and assessing congenital malformations. 2nd ed. Oxford: Oxford University Press; 2016.

Allanson JE, Biesecker LG, Carey JC, Hennekam RCM. Elements of morphology: introduction. Am J Med Genet A. 2009;149A(1):2-5. doi:10.1002/ajmg.a.32601.

Hennekam RCM, Biesecker LG, Allanson JE, Hall JG, Opitz JM, Temple IK, Carey JC; Elements of Morphology Consortium. Elements of morphology: general terms for congenital anomalies. Am J Med Genet A. 2013;161A(11):2726-2733. doi:10.1002/ajmg.a.36249.