Developmental Disorders
Hemifacial Microsomia
aka HFM · Craniofacial Microsomia · First and Second Branchial Arch Syndrome · Goldenhar Syndrome (with vertebral/ocular anomalies)
Second most common craniofacial anomaly; unilateral underdevelopment of mandible, ear, and soft tissues from first and second arch defects.
§ overviewOverview
Congenital asymmetric hypoplasia of structures derived from the first and second branchial arches, most commonly affecting the mandible, ear, and facial soft tissues.
§ icdICD Classification
Q87.0
§ etiologyEtiology
- 01Sporadic vascular disruption of stapedial artery
- 02Possible genetic component (14q32)
- 03Environmental teratogens
§ epidemiologyEpidemiology
1:3,500 to 1:5,600 births. M:F = 3:2. Right side > left.
§ pathogenesisPathogenesis
Vascular disruption or haematoma in 1st/2nd arch territory → tissue necrosis → hypoplasia of mandible, ear, muscles of mastication.
§ clinicalClinical Features
- 01Mandibular hypoplasia (Pruzansky grades)
- 02Microtia/anotia
- 03Facial nerve weakness
- 04Soft tissue deficiency
- 05Macrostomia
- 06Preauricular tags
- 07Vertebral anomalies (Goldenhar)
§ investigationsInvestigations
- 01Clinical + 3D CT
- 02Audiometry
- 03Spine X-ray if Goldenhar suspected
§ classificationClassification
- 01Pruzansky (I-III) — mandible
- 02OMENS classification — comprehensive
- 03Goldenhar = HFM + vertebral + epibulbar dermoids
§ treatmentTreatment
- 01Multidisciplinary craniofacial team
- 02Distraction osteogenesis (mandible)
- 03Costochondral graft for TMJ reconstruction
- 04Orthognathic surgery at skeletal maturity
- 05Ear reconstruction
§ surgicalSurgical Management
- 01Mandibular distraction
- 02Costochondral rib graft
- 03Microvascular free flap for soft tissue
- 04Auricular reconstruction
§ complicationsComplications
- 01Obstructive sleep apnoea
- 02Malocclusion
- 03Hearing loss
§ prognosisPrognosis
Good functional and aesthetic outcomes with staged surgical management.
§ examKey Examination Points
- 01Pruzansky grading predicts surgical approach
- 02Goldenhar = HFM + vertebral + eye anomalies
- 03Distraction useful in growing child
§ revisionQuick Revision Summary
- 011st + 2nd arch derivative hypoplasia
- 02OMENS: Orbit, Mandible, Ear, Nerve, Soft tissue
- 03Stapedial artery haemorrhage theory
§ vivaBDS Viva Questions
- 01What is the Pruzansky classification?
- 02Differentiate HFM from Goldenhar syndrome.
- 03What is the role of distraction in HFM?
§ mcqsMCQs — Assessment (3)
Question 1
HFM results from defects in which branchial arches?
Question 2
Goldenhar syndrome includes HFM plus:
Question 3
Pruzansky Grade III mandible:
References
- Kaban LB. J Oral Maxillofac Surg 1998
- Neville BW. Oral & Maxillofacial Pathology, 4e
Draft — pending faculty review. Educational use only; verify against current guidelines and primary sources before clinical application.