Melnick-Fraser Syndrome

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 development.

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 possible.

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.