Donnai Barrow syndrome

Donnai Barrow syndrome (DBS), also known as Faciooculoacousticorenal (FOAR) syndrome, is a rare, autosomal recessive disorder characterized by a variety of physical and cognitive abnormalities. It was first described by Donnai and Barrow in 1993.

Clinical Features

The clinical features of Donnai Barrow syndrome are diverse and can vary significantly between individuals. However, some common characteristics include:

• Facial dysmorphism: This includes a prominent forehead, hypertelorism (widely spaced eyes), downslanting palpebral fissures (the opening between the eyelids), and low-set ears.
• Ocular abnormalities: These can include high myopia (nearsightedness), retinal detachment, and cataracts.
• Hearing loss: This is typically sensorineural in nature, meaning it is caused by damage to the inner ear or the nerve pathways from the inner ear to the brain.
• Renal anomalies: These can include agenesis (absence) of one kidney, horseshoe kidney (where the two kidneys are fused together), and vesicoureteral reflux (backward flow of urine from the bladder into the kidneys).
• Cognitive impairment: This can range from mild learning disabilities to more severe intellectual disability.

Genetics

Donnai Barrow syndrome is caused by mutations in the LRP2 gene, which is located on chromosome 2. This gene provides instructions for making a protein that is involved in the development of the eyes, ears, and kidneys. Mutations in the LRP2 gene disrupt this development, leading to the features of Donnai Barrow syndrome.

Diagnosis

Diagnosis of Donnai Barrow syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the LRP2 gene.

Treatment

There is currently no cure for Donnai Barrow syndrome. Treatment is symptomatic and supportive, and may include surgery for ocular and renal abnormalities, hearing aids for hearing loss, and special education services for cognitive impairment.

Epidemiology

Donnai Barrow syndrome is extremely rare, with fewer than 50 cases reported in the medical literature. It affects both males and females equally, and has been reported in individuals of various ethnic backgrounds.

See Also

• Genetic disorder
• Autosomal recessive inheritance
• Facial dysmorphism
• Ocular abnormalities
• Hearing loss
• Renal anomalies
• Cognitive impairment

NIH genetic and rare disease info

• NIH info on Donnai Barrow syndrome

Donnai Barrow syndrome is a rare disease.

Donnai Barrow syndrome Resources
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