A syndrome characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing ...
Comprehensive, easy-to-understand information about this condition
How we create this content →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.
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.
To navigate branchio-oto-renal syndrome, consider consulting with a geneticist or an ear, nose, and throat (ENT) specialist who has experience with congenital syndromes. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. If you are interested in research opportunities, inquire about any natural history studies that may arise in the future.
Actionable guidance for navigating care for branchio-oto-renal syndrome
To navigate branchio-oto-renal syndrome, consider consulting with a geneticist or an ear, nose, and throat (ENT) specialist who has experience with congenital syndromes. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. If you are interested in research opportunities, inquire about any natural history studies that may arise in the future.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
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.
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.
To navigate branchio-oto-renal syndrome, consider consulting with a geneticist or an ear, nose, and throat (ENT) specialist who has experience with congenital syndromes. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. If you are interested in research opportunities, inquire about any natural history studies that may arise in the future.
Actionable guidance for navigating care for branchio-oto-renal syndrome
To navigate branchio-oto-renal syndrome, consider consulting with a geneticist or an ear, nose, and throat (ENT) specialist who has experience with congenital syndromes. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. If you are interested in research opportunities, inquire about any natural history studies that may arise in the future.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
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.
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.
To navigate branchio-oto-renal syndrome, consider consulting with a geneticist or an ear, nose, and throat (ENT) specialist who has experience with congenital syndromes. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. If you are interested in research opportunities, inquire about any natural history studies that may arise in the future.
Actionable guidance for navigating care for branchio-oto-renal syndrome
To navigate branchio-oto-renal syndrome, consider consulting with a geneticist or an ear, nose, and throat (ENT) specialist who has experience with congenital syndromes. While no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may provide valuable information. If you are interested in research opportunities, inquire about any natural history studies that may arise in the future.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
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