Branchiootorenal syndrome 1
Overview
Branchiootic syndrome 1: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 1 is caused by a defect on the EYA1 gene on chromosome 8q13. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
Symptoms
* Ear pits * Hearing impairment * Branchial pit * Branchial fistula * Ear tags
Diagnosis
The phrase "signs of Branchiootic syndrome 1" should, strictly speaking, refer only to those signs and symptoms of Branchiootic syndrome 1 that are not readily apparent to the patient.