Goldenhar Syndrome
Goldenhar Syndrome (Oculo-auriculo-vertebral spectrum)
Definition: A rare congenital condition characterized by incomplete development of the ear, nose, soft palate, lip, and mandible, typically affecting one side of the body (hemifacial microsomia).
Key Points
- Incidence: 1:3,500 to 1:7,000 live births
- Male:Female ratio = 3:2
- Predominantly unilateral (70-80% cases)
- Associated with embryonic vascular disruption during 1st & 2nd branchial arch development
Etiology
- Multifactorial inheritance pattern
- Risk factors:
- Maternal diabetes during pregnancy
- Multiple pregnancies
- Assisted reproductive techniques
- Vascular disruption during early pregnancy
Clinical Manifestations
Craniofacial Features
- Facial asymmetry
- Hemifacial microsomia
- Mandibular hypoplasia
- Maxillary hypoplasia
- Ear anomalies (83% cases)
- Microtia/anotia
- Preauricular tags or sinuses
- External auditory canal atresia
Ocular Manifestations
- Epibulbar dermoids (30-60% cases)
- Microphthalmia
- Coloboma of upper eyelid
- Strabismus
- Duane syndrome
Vertebral Anomalies
- Cervical vertebral fusion
- Scoliosis
- Hemivertebrae
- Occipitalization of atlas
Associated Features
- Cardiovascular (50% cases)
- Tetralogy of Fallot
- Ventricular septal defects
- Patent ductus arteriosus
- Central Nervous System
- Hydrocephalus
- Occipital encephalocele
Diagnostic Approach
Clinical Diagnosis
- Detailed physical examination
- Family history
- Prenatal history
Required Investigations
- Imaging Studies
- CT/MRI of temporal bone
- Spinal radiographs
- Echocardiogram
- Audiological Assessment
- BERA (Brainstem Evoked Response Audiometry)
- Impedance audiometry
- Ophthalmological Evaluation
- Renal ultrasonography
Differential Diagnosis
- Treacher Collins syndrome
- CHARGE syndrome
- Townes-Brocks syndrome
- Branchio-oto-renal syndrome
Treatment Approach
Multidisciplinary Team
- Craniofacial surgeon
- ENT specialist
- Ophthalmologist
- Orthodontist
- Speech therapist
- Genetic counselor
- Pediatric cardiologist
Surgical Interventions
- Timing based on severity and type of malformation
- Common procedures:
- Mandibular distraction osteogenesis (2-5 years)
- Ear reconstruction (6-8 years)
- Dermoid excision
- Cleft repair
Supportive Care
- Hearing aids/cochlear implants
- Speech therapy
- Dental care
- Psychological support
Prognosis and Follow-up
Long-term Outlook
- Variable depending on severity
- Good with early intervention
- Normal life expectancy in isolated cases
- Quality of life depends on:
- Severity of facial anomalies
- Associated organ system involvement
- Timing of interventions
Monitoring
- Regular follow-up until growth completion
- Annual audiological assessment
- Regular ophthalmological check-ups
- Dental and orthodontic monitoring
- Spine surveillance
