Treacher Collins Syndrome vs Goldenhar Syndrome
They overlap because both primarily involve abnormalities of the first and second branchial arches, causing craniofacial malformations.
Treacher Collins Syndrome (TCS)
Basic Defect
Primarily:
• mandibulofacial dysostosis
• bilateral symmetric craniofacial hypoplasia
Usually due to mutations in:
• TCOF1, POLR1D, POLR1C,
Inheritance:
• mostly autosomal dominant, de novo
Classical Facial Features
A. Mandibular Hypoplasia
Most characteristic finding.
Features: micrognathia, retrognathia, receding chin, small lower face
Prenatal clue: abnormal profile
B. Zygomatic Hypoplasia
Very characteristic postnatally.
Results in: flat cheek bones, sunken midface appearance
C. Downslanting Palpebral Fissures
Classic feature.
Often associated with: lower eyelid coloboma, sparse lower eyelashes
D. Ear Anomalies
Very common.
Includes: microtia, malformed pinna, absent external ear, conductive hearing loss
Usually bilateral.
E. Cleft Palate
Common and frequently isolated.
May cause: feeding difficulty, airway obstruction
F. Airway Problems
Due to severe mandibular hypoplasia.
Can cause:
• glossoptosis
• neonatal respiratory distress
• difficult intubation
Prenatal Ultrasound Features of TCS
Major Prenatal Findings
• bilateral micrognathia
• retrognathia
• low-set/malformed ears
• cleft palate
• polyhydramnios
Goldenhar Syndrome (OAV Spectrum)
Basic Defect
Abnormal development of:
• first and second branchial arches
• vertebral structures
• ocular region
Usually sporadic.
Etiology:
• heterogeneous
• vascular disruption/postzygotic mechanisms suspected
Classical Features of Goldenhar Syndrome
A. Hemifacial Microsomia
Most characteristic feature.
Usually:
• unilateral facial underdevelopment
• asymmetric mandible
• asymmetric cheeks
B. Ear Anomalies
Very common.
Includes:
• microtia, anotia, preauricular tags, malformed ear
Usually unilateral.
C. Ocular Abnormalities
Classic feature.
Includes:
• epibulbar dermoid, microphthalmia, coloboma, orbital asymmetry
D. Vertebral Anomalies
Very important differentiator.
Includes:
• hemivertebrae, butterfly vertebrae, scoliosis, cervical fusion
E. Facial Asymmetry
Extremely characteristic.
Includes:
• unilateral mandibular hypoplasia, short ramus, asymmetric mouth, unilateral facial flattening
Prenatal Ultrasound Features of Goldenhar
Major Findings
• asymmetric face
• unilateral mandibular hypoplasia
• ear anomaly
• vertebral segmentation defects
• facial asymmetry
| Feature | Treacher Collins | Goldenhar |
|---|---|---|
| Symmetry | Bilateral symmetric | Usually unilateral/asymmetric |
| Mandible | Bilateral hypoplasia | Hemifacial microsomia |
| Ear anomalies | Bilateral common | Often unilateral |
| Eye findings | Eyelid coloboma | Epibulbar dermoid |
| Vertebral anomalies | Rare | Common |
| Cleft palate | Common | Less common |
| Genetics | Defined genes | Heterogeneous |
| Hearing loss | Very common | Common |
| Facial asymmetry | Mild | Marked |
• symmetric micrognathia
• bilateral ear anomalies
• cleft palate
• polyhydramnios
Goldenhar when you see:
• asymmetric face
• one-sided mandibular hypoplasia
• vertebral anomalies
• unilateral ear anomaly