Goldenhar Syndrome

Synonyms: hemifacial microsomia, oculoauriculovertebral dysplasia, oculo-auriculo-vertebral spectrum

Goldenhar syndrome is a birth defect resulting from the maldevelopment of the first two branchial arches, with incomplete development of the ear, nose, soft palate, lip and mandible. The phenotype is highly variable.

• Incidence is approximately 1 per 25-45,000 births.
• Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.

• Facial hypoplasia and asymmetry: one side small (hemifacial microsomia), with hypoplastic mandible, malar, maxilla and facial muscles.
• Low set, usually malformed ear: unilateral deformity of the external ear, which may include preauricular cartilage tags, external meatal abnormalities, conductive deafness or even absence of the ear (anotia).
• Sensorineural deafness
• Mouth: macrostomia, cleft lip and/or cleft palate (10%), soft palate malfunction, agenesis of the parotid, tracheo-oesophageal fistula.
• Coloboma: coloboma of eyelids/iris/retina/choroid - most commonly of the upper eyelid, strabismus, epibulbar dermoid cyst, microphthalmia, anophthalmia, blepharoptosis.
• Vertebral abnormalities: hemivertebrae or block vertebra, vertebral hypoplasia, absent ribs, short neck.
• Midline facial cleft.
• Cardiac defects: ventricular septal defect, patent ductus arteriosus, Tetralogy of Fallot, coarctation of the aorta, pulmonary stenosis.²
• Respiratory: lung hypoplasia.
• Urogenital: ectopic kidney, renal agenesis, hydronephrosis, multicystic dysplastic kidney, malformed or absent uterus.
• CNS defects: learning difficulties (these may be as a result of deafness, but there may be other structural problems such as hydrocephalus, Arnold-Chiari malformation, occipital encephalocoele, agenesis of corpus callosum, hypoplasia of septum pellucidum).

Management includes craniofacial reconstruction, and management of hearing loss and other associated abnormalities.

Prognosis is variable depending on the presence and severity of associated cardiovascular, neurological and other complications.