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PubMed This is a summary of 18 peer-reviewed journal articles Updated
Medical Genetics

The Complete Diagnostic Work-up and Hidden Malformations

At a Glance

Goldenhar syndrome (OAVS) is a spectrum disorder that can involve hidden internal variations. A complete diagnostic work-up should include an echocardiogram for the heart, an ultrasound for the kidneys, imaging for the spine and brain, and a speech evaluation to ensure safe, proactive care.

When an individual is diagnosed with Goldenhar Syndrome (OAVS), it is common for the initial focus to be on the visible differences in the face and ears. However, because this condition is a spectrum (represented by the “+” in the OMENS+ system), it can also involve internal organs and “hidden” structures [1][2].

Ensuring a complete diagnostic work-up is not about looking for reasons to worry; it is about providing the doctors with a full map of the unique anatomy so they can provide the safest and most effective care [3][1].

The Systemic Completeness Checklist

A comprehensive evaluation is recommended for everyone with OAVS upon diagnosis [1][4]. You can use the following checklist to advocate for these necessary screenings with your medical team:

1. Heart (Cardiovascular)

  • Screening: Echocardiogram [5][6].
  • Why: Some individuals with OAVS have congenital heart defects, such as a ventricular septal defect (a hole between the heart’s lower chambers) or blood vessel differences like a persistent fifth aortic arch [5][6].

2. Kidneys (Renal)

  • Screening: Renal Ultrasound [1].
  • Why: Anomalies of the urogenital tract, including having a single kidney (renal agenesis), are found in some cases of OAVS [7].

3. Spine (Vertebral)

  • Screening: Cervical and Thoracic X-rays or MRI [8][9].
  • Why: Differences in the bones of the neck (cervical spine) or back are common, including fused vertebrae [10][11]. Identifying these early is critical for safety—especially before any surgery—because certain neck differences can make it risky to tilt the head back for anesthesia [12][11].

4. Brain and Central Nervous System

  • Screening: Neuroimaging (Brain MRI) [13].
  • Why: OAVS can sometimes be associated with intracranial differences, including vascular (blood vessel) or bone variations inside the skull [13][14].
  • Note for Parents: The vast majority of individuals with OAVS have normal intelligence; brain imaging is primarily used to check for structural or blood vessel variations, not to predict cognitive potential.

5. Speech and Swallowing (Velopharyngeal Insufficiency)

  • Screening: Evaluation by a Speech-Language Pathologist [4][15].
  • Why: Velopharyngeal Insufficiency (VPI) occurs when the soft palate at the back of the mouth doesn’t close properly against the throat [4][16]. This can lead to hypernasal speech (sounding like “talking through the nose”) or difficulties with swallowing and feeding [15][16].

Why “Wait and See” Isn’t Enough

Because the diagnostic criteria for OAVS are somewhat subjective, doctors must look at the “whole picture” rather than just the face [17][18]. Identifying these features early allows for proactive management. For example, knowing about a heart defect or hearing loss early on ensures the right support is provided during the most critical years of speech and language development [5][4].

If your medical team has not yet ordered these screenings, strongly request them. Taking these steps now ensures that no “hidden” part of the spectrum is missed.

Common questions in this guide

Why do people with Goldenhar syndrome need an echocardiogram?
Some individuals with Goldenhar syndrome have congenital heart defects, such as a hole between the heart's lower chambers (ventricular septal defect). An echocardiogram helps identify these variations early to ensure proper cardiac care.
Can Goldenhar syndrome affect the kidneys?
Yes, differences in the urogenital tract, such as having only a single kidney (renal agenesis), can occur in some cases. A renal ultrasound is recommended upon diagnosis to confirm that both kidneys are present and structurally healthy.
Why is a spine x-ray important before surgery for Goldenhar syndrome?
Differences in the neck or back bones, like fused vertebrae, are common with this condition. Identifying cervical spine differences is crucial before any surgery because certain neck variations can make tilting the head back for anesthesia intubation risky.
What causes hypernasal speech in someone with Goldenhar syndrome?
Hypernasal speech is often caused by velopharyngeal insufficiency (VPI), which happens when the soft palate doesn't close properly against the throat. A speech-language pathologist can evaluate this to help manage speech and feeding difficulties.
Does Goldenhar syndrome affect brain development or intelligence?
The vast majority of individuals with Goldenhar syndrome have normal intelligence. Brain imaging (like an MRI) is typically done to check for structural or blood vessel variations inside the skull, not to predict cognitive potential.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Has an echocardiogram been ordered to check for heart defects like a ventricular septal defect (VSD)?
  2. 2.Do we have a renal ultrasound scheduled to ensure both kidneys are present and healthy?
  3. 3.Can you review the cervical spine imaging? Is there any evidence of vertebral fusion or instability that would make intubation during surgery risky?
  4. 4.Has Velopharyngeal Insufficiency (VPI) been screened for, and how could that affect speech and feeding?
  5. 5.Which multidisciplinary specialist should be seen next to ensure this systemic checklist is complete?

Questions For You

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References

References (18)
  1. 1

    Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.

    Güleray N, Koşukcu C, Oğuz S, et al.

    The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2022; (59(9)):1114-1124 doi:10.1177/10556656211038115.

    PMID: 34410171
  2. 2

    Late Recognition of a Case of Oculo-Auriculo-Vertebral Spectrum.

    El Mansoury J, Mbekeani JN

    Optometry and vision science : official publication of the American Academy of Optometry 2016; (93(11)):1449-1453 doi:10.1097/OPX.0000000000001002.

    PMID: 27755235
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    Goldenhar syndrome: current perspectives.

    Bogusiak K, Puch A, Arkuszewski P

    World journal of pediatrics : WJP 2017; (13(5)):405-415 doi:10.1007/s12519-017-0048-z.

    PMID: 28623555
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    Congenital abnormalities associated with microtia: A 10-YEARS retrospective study.

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    International journal of pediatric otorhinolaryngology 2021; (146()):110764 doi:10.1016/j.ijporl.2021.110764.

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    Complex Presentation of Goldenhar Syndrome in a Preterm Neonate: A Case Report.

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    Cureus 2024; (16(7)):e63624 doi:10.7759/cureus.63624.

    PMID: 39092402
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    A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report.

    Balaban İ, Bilgici MC, Baysal K

    BMC pediatrics 2022; (22(1)):102 doi:10.1186/s12887-022-03137-0.

    PMID: 35189859
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    Extracraniofacial anomalies in craniofacial microsomia: retrospective analysis of 991 patients.

    Renkema RW, Caron CJJM, Pauws E, et al.

    International journal of oral and maxillofacial surgery 2019; (48(9)):1169-1176 doi:10.1016/j.ijom.2019.01.031.

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    Expanding the Etiology of Oculo-Auriculo-Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36.

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    International journal of molecular sciences 2022; (24(1)) doi:10.3390/ijms24010036.

    PMID: 36613479
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    Multicorrection Goldenhar syndrome (facio-auriculo-vertebral dysplasia): a rare follow-up case of 12-year-old female.

    Varma AR, Meshram RJ, Varma AR, et al.

    The Pan African medical journal 2021; (39()):96 doi:10.11604/pamj.2021.39.96.27259.

    PMID: 34466198
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    Hemifacial microsomia: skeletal abnormalities evaluation using CBCT (case report).

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    Congenital Synostosis of Cervical Vertebrae: An Osteological Study and Review of the Literature.

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    Cureus 2019; (11(10)):e6015 doi:10.7759/cureus.6015.

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    Cervical spine considerations in Goldenhar syndrome: a clinical perspective.

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    Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (41(1)):65 doi:10.1007/s00381-024-06727-8.

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    Oculo-auriculo-vertebral spectrum: going beyond the first and second pharyngeal arch involvement.

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    Imaging Findings in Syndromes with Temporal Bone Abnormalities.

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    Abnormal soft palate movements in patients with microtia.

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    Salivary glands abnormalities in oculo-auriculo-vertebral spectrum.

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    Distinguishing Goldenhar Syndrome from Craniofacial Microsomia.

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This page explains diagnostic screenings for Goldenhar syndrome for educational purposes only. Always work with your multidisciplinary medical team to determine the right evaluations for your specific situation.

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