Very rare genetic disorder characterized by
distinctive malformations of the head and facial area, with skin lesions and
abnormalities of the eyes. Other clinical features may include renal anomalies
(bilateral renal dysplasia), Mendini-type cochlear malformation (hypoplasia
of cochlear apex on CT scan), bilateral prehelical pits, and bilateral
branchial cleft fistulas.
Branchio-Oto-Renal (BOR) syndrome.
Rare; 1:40,000 live births; approximately 2% of
profoundly deaf children.
Autosomal dominant; gene located on 8q13.3.
Not clearly defined, probably caused in great part
by mutation of human EYA 1 gene homologue of the Drosophila “eyes absent” gene
(EYA). This gene is expressed in all areas of the developing inner ear and
in the metanephric cells of the developing kidney, early in fetal
Clinically evocated by pits or ear tags in front of the
outer ear, branchial fistulas, branchial cysts, hearing loss, and abnormal
development of the kidneys (polycystic or dysplasia). Prenatal diagnosis is
This bipolar disease involves head and neck with
auricular pits (77%); deafness that is perceptive, conductive, or mixed
(89%); narrow auditory canal; and branchial cleft or cysts (63%).
Cleft palate or uvula, facial paresis, microphthalmia, and absent
nasolacrimal duct can be observed. Occasional deep prognathism.
Genitourinary tract is the second pole of the disease (66%), ranging from
minor dysplasia (double ureters, hydronephrosis, polycystic kidneys,
supernumerary, ectopic or small kidneys) to bilateral renal agenesis.
Evaluate deafness (clinical,
auditory evoked potentials, ear, nose, throat investigations). Evaluate renal function
(clinical; echography/CT scan; scintigraphy; laboratory blood and urinary
investigations, including urea and electrolytes).
Comprehension and cooperation of the
patient is not always evident in case of deafness. Prognathism may make
direct laryngoscopy and tracheal intubation difficult.
Perioperative fluid regimen should be
adapted to renal status. Avoid drugs with renal metabolism in case of renal
insufficiency. Use of aminosides should be carefully evaluated considering
deafness and renal status.
Branchio-Oculo-Facial Syndrome: Very rare genetic disorder
apparent at birth. May be characterized by low birth weight; presence of an
abnormal pit, cleft, or hemangiomatous or atrophic postauricular skin
lesion. Distinctive craniofacial malformations; abnormalities of the eyes;
and premature graying of the scalp hair during adolescence. Other features
might include cleft palate and lip and prominent philtrum that resembles a
surgically repaired cleft lip (pseudocleft). Characteristic eye includes
microphthalmia, cataracts, congenital strabismus, ocular hypertelorism, and
coloboma of the iris, giving the iris a “keyhole” appearance. Inherited as
an autosomal dominant genetic trait.
Branchio-Oto-Ureteral Syndrome: Rare disorder inherited as
an autosomal dominant trait with variable expression. The main
characteristics are ear and kidney abnormalities. The outer ear may have
pits or tags, be cone shaped, or be smaller than normal. Ureteral
duplication or misposition is always present, and the kidney collecting
system may be split in two.
Chitayat D, Hodgkinson KA, Chen MF, et al: Branchio-oto-renal syndrome:
Further delineation of ...