Facio-Oculo-Acoustico-Renal (FOAR) Syndrome

Genetic disorder affecting the eyes (blindness), ears (deafness), face, kidneys, and bones.

FOAR Syndrome.

Very rare syndrome (fewer than 10 cases have been reported), which most likely is transmitted as an autosomal recessive trait. FOAR syndrome and Donnai-Barrow syndrome are believed to be the same entity.

Characterized by anomalies of the eye (high myopia, iris coloboma, retinal detachment, chorioretinal atrophy, poorly differentiated maculae, cataract, glaucoma), the face (macrocephaly, flat nasal bridge, true hypertelorism, telecanthus, antimongoloid slanting of the palpebral fissures, prominent eyebrows), the ears (moderate-to-severe sensorineural deafness), the skeleton (epiphyseal dysplasia of the femoral heads), and the kidneys (structural abnormalities, proteinuria, hematuria, aminoaciduria). Psychomotor development may range from moderately delayed to normal.

No special precautions other than the usual patient preparation for a general anesthesia.

Patients often present for eye surgery (retinal detachment). No anesthetic complications have been reported. Airway management is not expected to be difficult. Check renal function (creatinine, blood urea nitrogen) and serum concentrations of protein, electrolytes, and hemoglobin (renal anemia) preoperatively. Patients are blind and deaf; consequently, their cooperation may be reduced. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of anesthesia may be helpful.

Ketamine and succinylcholine should not be used in the presence of increased intraocular pressure. Avoid using drugs with predominantly renal elimination in patients with decreased kidney function. Carefully titrate highly protein-bound drugs because hypoproteinemia may result from proteinuria and lead to increased concentrations of the free drug.

Donnai-Barrow Syndrome: Genetic disorder responsible for diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, eye anomalies, and sensorineural deafness.

Waardenburg Syndrome, Type I: Characterized by a wide bridge of the nose resulting from lateral displacement of the inner canthus of each eye, pigmentary disturbance (frontal white blaze of hair, heterochromia iridis, white eye lashes, leukoderma), and cochlear deafness. Severity varies widely; some affected persons escape deafness. Confusion between FOAR syndrome and Waardenburg syndrome is frequent.