Genetic disorder affecting the eyes (blindness), ears
(deafness), face, kidneys, and bones.
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
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.
Devriendt K, Standaert L, Van Hole C, et al: Proteinuria in a patient
with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome:
Further evidence that the facio-oculo-acoustico-renal syndrome represents
the same entity. J Med Genet
Schowalter DB, Pagon RA, Kalina RE, et al: Facio-oculo-acoustico-renal
(FOAR) syndrome. Am J Med Genet