branchio-oto-renal syndrome

Branchio-oto-renal syndrome is characterized by a combination of branchial arch anomalies, hearing impairments, and renal malformations. Patients often present with abnormalities of the inner and middle ear, including preauricular pits and various types of hearing impairment, which are seen in 80-99% of cases. Renal issues may include urinary tree malformations and renal dysplasia. Despite the significant clinical impact, no specific genes have been identified, and the inheritance pattern remains unclear. The prevalence of this syndrome is estimated to be between 1-9 in 100,000 individuals.

Patients with branchio-oto-renal syndrome commonly experience hearing impairments, with 80-99% presenting with abnormalities of the inner ear and middle ear. Features such as preauricular pits are also prevalent. Other ear-related issues include conductive and mixed hearing impairments, affecting 30-79% of patients. Renal anomalies can vary widely, potentially leading to significant health challenges.

Documentation about branchio-oto-renal syndrome is limited primarily due to its rarity, affecting fewer than 10,000 individuals in the U.S. This rarity restricts the scope of systematic clinical studies, leading to gaps in understanding the genetic basis and inheritance patterns. Ongoing research may help clarify these aspects in the future.