Jonathan H. Salvin
BASICS
DESCRIPTION
• Goldenhar syndrome is part of the oculoauriculovertebral spectrum (OAVS).
• Characterized by epibulbar choristomas, preauricular appendages, vertebral anomalies, and hemifacial microsomia (1)[C].
EPIDEMIOLOGY
Incidence
• 1 in 3500 to 5600 births (2)[C]
• Male predominance (3:2)
Prevalence
Unknown.
RISK FACTORS
None definitively identified.
Genetics
• Most cases are sporadic.
• Autosomal dominant (often bilateral auricular involvement) and autosomal recessive have been reported (3)[C].
• Chromosomal aberrations have been reported including chromosome 5p terminal deletion and del22q11.2 (4)[C].
• At least 4 specific loci and 1 identified gene, SALL1 gene (16q12.1).
PATHOPHYSIOLOGY
Congenital disorder; see Etiology section.
ETIOLOGY
• Impaired migration of neural crest cells resulting in anomalies of 1st and 2nd branchial arches (5)[C].
• Ocular manifestations second to anomalous formation of first branchial arch, maxillary division (2)[C].
COMMONLY ASSOCIATED CONDITIONS
• Hemifacial microsomia (1)[C].
• Cardiovascular, nervous, musculoskeletal, and urogenital abnormalities.
• Nasal abnormalities.
• Hearing loss/deafness.
• Torticollis due to vertebral anomalies.
DIAGNOSIS
HISTORY
Family history.
PHYSICAL EXAM
• Full ocular examination
– Limbal, ipsilateral, inferotemporal epibulbar dermoid (most frequent ocular sign); may have protruding cilia and induced astigmatism (2)[C].
– Lipodermoid typically found temporally (2)[C].
– Assess for ocular motility disorders, especially Duane syndrome (1)[C].
– Examine for other signs: Upper eyelid coloboma with possible adhesion to the globe, blepharoptosis/shortening of palpebral fissure (uncommon), lacrimal drainage system anomalies (1)[C].
– Evaluate for corneal anesthesia, decreased tear production, neuroparalytic corneal ulcers (uncommon) (6)[C].
– Assessment of visual function as induced astigmatism can frequently cause amblyopia (2)[C].
– Facial examination for preauricular appendages, hemifacial asymmetry, and microtia (1)[C].
– Microphthalmia with or without hypoplasia of optic nerve and macula (uncommon) (5)[C].
– Caruncle may be absent or ectopic.
• Full systemic exam for other associated findings.
DIAGNOSTIC TESTS & INTERPRETATION
Lab
• None, if no other systemic findings.
• Appropriate laboratory testing if genitourinary involvement.
Imaging
Initial approach
• Neurologic and facial imaging as indicated.
• Cervical spine imaging.
Follow-up & special considerations
Monitor for amblyopia.
Diagnostic Procedures/Other
• Audiology evaluation
• Genetics consultation
• Renal ultrasound as indicated
Pathological Findings
Epibulbar dermoids consist of collagenous connective tissue covered by conjunctival or corneal epithelium with possible epidermal appendages.
DIFFERENTIAL DIAGNOSIS
• Treacher–Collins syndrome
• Pierre Robin syndrome
• Cervico-oculo-acusticus syndrome
• Town–Brocks syndrome
• Oculoectodermal syndrome
TREATMENT
MEDICATION
None for the primary disorder but may need for secondary complications.
ADDITIONAL TREATMENT
General Measures
Amblyopia treatment as indicated.
Issues for Referral
• Craniofacial/plastic surgery evaluation for cosmetic repair.
• Otolaryngology evaluation for external ear and audiology testing.
• Genetics for diagnosis, testing, and counseling.
SURGERY/OTHER PROCEDURES
• Surgical excision of limbal dermoid indicated for cosmetic reconstruction, presence of symptoms (redness, foreign body sensation), induced astigmatism causing amblyopia, secondary corneal complications (1)[C].
• Excision of lipodermoid with caution due to extraocular muscle involvement.
• Eyelid repair
• Craniofacial/plastic surgery for facial malformations
IN-PATIENT CONSIDERATIONS
Initial Stabilization
In-patient care only required for nonocular associations.
ONGOING CARE
FOLLOW-UP RECOMMENDATIONS
• As needed for secondary complications.
• Monitor for amblyopia, full refractive correction and symptoms requiring excision of limbal dermoid.
PATIENT EDUCATION
• Genetic counseling
• Appropriate educational services for hearing impairment
• Goldenhar Syndrome Support Network Society, http://barbmiles.tripod.com/
• Goldenhar Family Support Group (UK), http://www.goldenhar.org.uk/
• AboutFace, http://www.aboutfaceinternational.org/
PROGNOSIS
Ocular prognosis is good if amblyopia treated.
COMPLICATIONS
• Corneal dellen, exposure or ulcer
• Amblyopia
REFERENCES
1. Mansour AM, Wang F, Henkind P, Goldberg R, Shprintzen R. Ocular findings in the facioauri-culovertebral sequence (Goldenhar-Gorlin Syndrome). Am J Opthalmol 1985;100(4):555–559.
2. Caca I, Unlu K, Ari S. Two cases of goldenhar syndrome. J Pediatr Opthalmol Strabismus 2006;43:107–109.
3. Vendramini-Pittoli S, Kokitsu-Nakata NM. Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol 2009;18(2):67–77.
4. Ala-Mello S, Siggberg L, Knuutila S, Von Koskull H, Taskinen M, Peippo M. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. Am J Med Genet 2008;146A:2490–2494.
5. Margolis S, Aleksic S, Charles N, McCarthy J, Greco A, Budzilovich G. Retinal and optic nerve findings in Goldenhar-Gorlin Syndrome. Ophthalmology 1984;91(11):1327–1333.
6. Baum JL, Feingold M. Ocular aspects of Goldenhar’s syndrome. Am J Ophthalmol 1973;75(2):250–257.
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