What are the key differences between Goldenhar (oculo-auriculo-vertebral (OAV) spectrum) and CHARGE syndromes in a neonate presenting with unilateral eye palsy and a hairy ear?

Distinguishing Goldenhar Syndrome from CHARGE Syndrome

In a neonate with unilateral eye palsy and a hairy ear, Goldenhar syndrome (oculo-auriculo-vertebral spectrum) is the more likely diagnosis, as it characteristically presents with unilateral hemifacial microsomia and ear anomalies, whereas CHARGE syndrome typically presents with bilateral colobomas and specific inner ear malformations rather than external ear hairiness. 1, 2

Key Distinguishing Features

Laterality Pattern

• Goldenhar syndrome: Predominantly unilateral involvement (80-95% of cases), with marked facial asymmetry and hemifacial microsomia affecting one side 3, 2
• CHARGE syndrome: Typically bilateral manifestations, particularly with colobomas and semicircular canal abnormalities 1

Ocular Findings

• Goldenhar syndrome:
  • Unilateral microphthalmia or anophthalmia
  • Epibulbar dermoids (lipodermoids on the eye surface)
  • Eyelid colobomas
  • Duane retraction syndrome (limited eye abduction/adduction) in some cases 4, 3, 2
• CHARGE syndrome:
  • Bilateral colobomas (iris, retina, or choroid) as a cardinal feature
  • Requires ophthalmologic examination to document this diagnostic hallmark 1

Ear Abnormalities

• Goldenhar syndrome:
  • Preauricular skin tags (the "hairy ear" appearance)
  • Microtia (small, malformed external ear)
  • Aural atresia
  • Predominantly unilateral ear malformations 4, 2
• CHARGE syndrome:
  • Characteristic "CHARGE ear" with shortened, wide external ear
  • Absent or hypoplastic semicircular canals (detected on MRI)
  • Cochlear abnormalities
  • Bilateral involvement more common 5, 1

Cardiac Involvement

• Goldenhar syndrome: Cardiac defects present in some cases but not a defining feature 6, 7
• CHARGE syndrome: Congenital heart defects in 75-80% of patients, often life-threatening and requiring urgent evaluation in the first year 1

Vertebral/Skeletal Findings

• Goldenhar syndrome:
  • Vertebral segmentation defects
  • Hemivertebrae
  • Scoliosis
  • Torticollis and plagiocephaly may be present 6, 4, 7
• CHARGE syndrome: Less prominent vertebral involvement 1

Additional Distinguishing Features

• Goldenhar syndrome:
  • Mandibular hypoplasia (underdeveloped jaw on affected side)
  • Maxillary hypoplasia
  • Facial clefting in severe cases
  • Renal anomalies possible 4, 7, 2
• CHARGE syndrome:
  • Choanal atresia (nasal passage blockage)
  • Hypogonadism/genital hypoplasia
  • Growth hormone deficiency
  • Characteristic facial features (square face with broad forehead) 1

Diagnostic Approach

Immediate Clinical Assessment

• Document laterality: Unilateral findings strongly favor Goldenhar syndrome 3, 2
• Examine external ear: Preauricular tags and microtia suggest Goldenhar; shortened wide ear with normal external appearance suggests CHARGE 1, 2
• Assess facial symmetry: Marked hemifacial microsomia is pathognomonic for Goldenhar 2

Genetic Testing Strategy

• For Goldenhar syndrome: Array CGH to detect CNVs (including 7q21.11 deletions); specific gene testing remains limited as most cases lack identified mutations 7, 2
• For CHARGE syndrome: CHD7 gene sequencing as first-line test (positive in ~60% of cases) 1

Imaging Studies

• Goldenhar syndrome: Focus on vertebral imaging and renal ultrasound 4, 7
• CHARGE syndrome: Head MRI to assess semicircular canals (highly specific finding), cardiac echocardiography for life-threatening defects, and renal ultrasound 1

Audiologic Evaluation

• Both conditions require comprehensive audiologic testing, but the pattern differs:
  • Goldenhar: Conductive hearing loss from external/middle ear malformations 2
  • CHARGE: Mixed or sensorineural hearing loss from inner ear abnormalities; requires early amplification or cochlear implant planning due to dual sensory impairment risk 1

Critical Clinical Pitfall

The most important pitfall is assuming these are mutually exclusive diagnoses. There is documented clinical overlap between oculo-auriculo-vertebral spectrum and CHARGE association, with some patients exhibiting features of both conditions, suggesting a possible shared pathogenetic mechanism involving axial mesodermal dysblastogenesis 6. However, in typical presentations, the unilateral versus bilateral pattern and specific ear morphology remain the most reliable distinguishing features for initial clinical decision-making.