Branchio-Oto-Renal Syndrome

Definition

Definition of Branchio-Oto-Renal Syndrome
Branchio-oto-renal syndrome (BOR), also known as branciootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It has also been described as Melnick-Fraser syndrome after Frank Clarke Fraser and Michael Melnick.

Symptoms

Symptoms of Branchio-Oto-Renal Syndrome
The signs associated with BOR syndrome are highly variable. Some individuals with BOR syndrome have many physical deformities. Other individuals with BOR syndrome have a very few minor physical differences. The birth defects can appear on only one side of the face (unilateral) or be present on both sides (bilateral). Abnormal development of the ears is the most frequent characteristic of BOR syndrome. The ears may be smaller than normal (microtia) and may have an abnormal shape. Ear tags (excess pieces of skin) may be seen on the cheek next to the patient's ear. Preauricular pits (small pits in the skin on the outside of the ear) are found in 75% of patients affected with BOR syndrome. Hearing loss is present in 85% of individuals with BOR syndrome and this may be mild or severe.

Causes

Causes of Branchio-Oto-Renal Syndrome
Consult with your doctor.

Diagnosis

Diagnosis of Branchio-Oto-Renal Syndrome
The diagnosis of branchiootorenal spectrum disorders is based on clinical criteria. Molecular genetic testing of the EYA1 gene (BOR1, BOS1) detects mutations in approximately 40% of individuals with the clinical diagnosis of BOR/BOS. Mutations can be detected in an additional 5% and 4% of individuals with the clinical diagnosis of BOR/BOS by molecular genetic testing of the SIX5 (BOR2) and SIX1 (BOR3, BOS3) genes, respectively. This testing is available clinically.

Treatment

Treatment of Branchio-Oto-Renal Syndrome
Excision of branchial cleft cysts/fistulae, fitting with appropriate aural habilitation, and enrollment in appropriate educational programs for the hearing impaired are appropriate. A canaloplasty should be considered to correct an atretic external auditory canal. Medical and surgical treatment for vesicoureteral reflux may be necessary. End-stage renal disease may require dialysis or renal transplantation. Surveillance: semiannual examination for hearing impairment and annual audiometry to assess stability of hearing loss and semiannual/annual examination by a nephrologist as indicated.

Agents/circumstances to Avoid: nephrotoxic mediations. Testing of relatives at risk: At-risk relatives should be screened for hearing loss and renal involvement to allow early diagnosis and treatment.

Prognosis

Prognosis of Branchio-Oto-Renal Syndrome
Consult with your doctor.

Prevention

Prevention of Branchio-Oto-Renal Syndrome
Consult with your doctor.