Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Goldenhar syndrome in Adult
Other Resources UpToDate PubMed

Goldenhar syndrome in Adult

Contributors: Deepak Sobti MD, Harold E. Cross MD, PhD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

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.

Codes

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

SNOMEDCT:
205418005 – Goldenhar syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

To perform a comparison, select diagnoses from the classic differential

Subscription Required

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:01/16/2022
Copyright © 2024 VisualDx®. All rights reserved.
Goldenhar syndrome in Adult
Print  
A medical illustration showing key findings of Goldenhar syndrome : Facial dysmorphology, Hearing loss, Heart murmur, Present at birth
Clinical image of Goldenhar syndrome - imageId=6314460. Click to open in gallery.
Copyright © 2024 VisualDx®. All rights reserved.