Donnai–Barrow syndrome

Autosomal recessive - en

Donnai–Barrow syndrome (DBS) is a rare genetic disorder characterized by a range of congenital anomalies and developmental delays. It is also known as faciooculoacousticorenal syndrome (FOAR). The syndrome is named after the researchers who first described it, Margaret Donnai and Michael Barrow.

Clinical Features

Individuals with Donnai–Barrow syndrome typically present with a variety of clinical features, including:

• Facial dysmorphism: Distinctive facial features such as a broad forehead, widely spaced eyes (hypertelorism), and a prominent nasal bridge.
• Sensorineural hearing loss: Hearing impairment due to abnormalities in the inner ear.
• Ocular anomalies: Eye abnormalities such as high myopia, coloboma, and retinal detachment.
• Renal anomalies: Kidney abnormalities, which may include renal dysplasia or other structural defects.
• Developmental delay: Delays in reaching developmental milestones and intellectual disability.

Genetics

Donnai–Barrow syndrome is caused by mutations in the LRP2 gene, which encodes the low-density lipoprotein receptor-related protein 2. This gene plays a crucial role in the development of various tissues and organs. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

The diagnosis of Donnai–Barrow syndrome is based on clinical evaluation, family history, and genetic testing. Molecular genetic testing can confirm the presence of mutations in the LRP2 gene.

Management

There is no cure for Donnai–Barrow syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Hearing aids or cochlear implants for hearing loss.
• Regular ophthalmologic evaluations and interventions for ocular anomalies.
• Monitoring and management of renal function.
• Early intervention programs and special education services to address developmental delays.

Epidemiology

Donnai–Barrow syndrome is extremely rare, with only a few dozen cases reported in the medical literature. The exact prevalence is unknown.

See Also

• Genetic disorder
• Congenital anomaly
• Developmental delay
• Sensorineural hearing loss
• Ocular anomaly
• Renal dysplasia

External Links

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Medical condition