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Goldenhar syndrome in Infant/Neonate
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Goldenhar syndrome in Infant/Neonate

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Contributors: Deepak Sobti MD, Harold E. Cross MD, PhD, Lauren Patty Daskivich MD, MSHS, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Goldenhar syndrome, also known as oculo-auriculo-vertebral dysplasia, is primarily a craniofacial malformation disorder, but many patients have skeletal, cardiac, and cognitive signs as well. The facial malformations are often asymmetric (hemifacial or craniofacial microsomia). This congenital disorder is clinically heterogeneous, and the signs vary widely from case to case. Goldenhar syndrome is rare, present in only 1 of every 3500-25 000 newborns.

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.

For more information, see OMIM.

Codes

ICD10CM:
Q87.0 – Congenital malformation syndromes predominantly affecting facial appearance

SNOMEDCT:
205418005 – Goldenhar syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

Goldenhar syndrome can be difficult to diagnose because many of its features are found in other malformation syndromes.
  • 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.

Best Tests

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Therapy

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References

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Last Updated: 10/15/2018
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Goldenhar syndrome in Infant/Neonate
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Goldenhar syndrome : Facial dysmorphology, Hearing loss, Heart murmur, Present at birth
Clinical image of Goldenhar syndrome
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