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

Goldenhar's 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.

The classic triad is mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies.¹

Epidemiology

• Incidence is approximately 1 per 25-45,000 births.²
• Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance.

Presentation

• 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 the 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.³
• Midline facial cleft.
• Cardiac defects: ventricular septal defect, patent ductus arteriosus, Fallot's tetralogy, coarctation of the aorta, pulmonary stenosis.⁴
• Respiratory: lung hypoplasia.
• Urogenital: ectopic kidney, renal agenesis, hydronephrosis, multicystic dysplastic kidney, malformed or absent uterus.
• Central nervous system 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 encephalocele, agenesis of corpus callosum, hypoplasia of septum pellucidum).⁵ Also, facial nerve palsy.⁶

Management

Surgical management involves craniofacial reconstruction.
Supportive multidisciplinary management should be arranged, including departments such as paediatric cardiology, audiology, ophthalmology and plastic surgery.

Prognosis

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

Document references

1. Martelli-Junior H, Miranda RT, Fernandes CM, et al; Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci. 2010 Dec;18(6):646-9. [abstract]
2. Hemifacial Microsomia, Online Mendelian Inheritance in Man (OMIM)
3. Engiz O, Balci S, Unsal M, et al; 31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, Genet Couns. 2007;18(3):277-88. [abstract]
4. Morrison PJ, Mulholland HC, Craig BG, et al; Cardiovascular abnormalities in the oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet. 1992 Nov 1;44(4):425-8. [abstract]
5. Rosa RF, Graziadio C, Lenhardt R, et al; Central nervous system abnormalities in patients with oculo-auriculo-vertebral Arq Neuropsiquiatr. 2010 Feb;68(1):98-102. [abstract]
6. Touliatou V, Fryssira H, Mavrou A, et al; Clinical manifestations in 17 Greek patients with Goldenhar syndrome. Genet Couns. 2006;17(3):359-70. [abstract]

Internet and further reading

• Tewfik TL et al; Manifestations of Craniofacial Syndromes, Medscape, Mar 2010

Acknowledgements