Goldenhar syndrome in Adult
The abnormalities are found mainly in the ears, vertebrae, heart, and ocular structures, as this is a developmental malformation of the first and second branchial arches. Craniofacial abnormalities may include preauricular skin tags, microtia, anotia, and microphthalmia. Vertebrae, central nervous system, and cardiac structures may also be involved. However, many patients lead normal lives with a normal level of intelligence.
Most cases occur sporadically, but some familial cases suggest autosomal dominant inheritance in 1%-2% of instances.
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance
205418005 – Goldenhar syndrome
Differential Diagnosis & Pitfalls
- Treacher-Collins syndrome may have lid colobomas (usually in the lower lids), while facial asymmetry can also be seen in Aicardi syndrome and in syndromic microphthalmia.
- Hearing loss, vertebral anomalies, and cardiac defects occur together in Wildervanck syndrome.
- Ocular dermoids and lipodermoids are sometimes seen in the organoid nevus syndrome and in ring dermoids of the cornea.