Craniofacial conditions
Asymmetric underdevelopment of one half of the face – the oculo-auriculo-vertebral spectrum (OAVS).
Hemifacial microsomia is, after cleft lip and palate, the second most common congenital facial malformation. Characteristic is an asymmetric underdevelopment of the lower jaw, ear and soft tissues of one half of the face. It belongs to the oculo-auriculo-vertebral spectrum (OAVS). Goldenhar syndrome is a variant of this spectrum with additional eye findings (epibulbar dermoids) and vertebral anomalies. Intellectual development is usually normal.
Hemifacial microsomia arises from a developmental disturbance of the 1st and 2nd branchial arches in early pregnancy, from which the lower jaw, ear and parts of the face arise. The causes are heterogeneous; most cases occur sporadically (without familial clustering). Among other things, an early circulatory disturbance in the facial region is discussed; in a smaller proportion, genetic factors play a role.[1] The frequency is estimated at about 1 : 3,500 to 1 : 5,600 births.[2]
The expression is very variable – from very mild to marked.
The term Goldenhar syndrome denotes a more severe variant of the oculo-auriculo-vertebral spectrum, in which, in addition to the facial features, epibulbar dermoids of the eyes and vertebral anomalies occur. Hemifacial microsomia and Goldenhar syndrome are today understood as different expressions of the same spectrum.[1]
In case of marked underdevelopment of the lower jaw, breathing and feeding problems can exist – similar to Pierre Robin sequence. These take priority and require an early assessment. An early hearing work-up is just as important, as hearing influences language development.
The order depends on the airway, hearing and growth. Definitive procedures are mostly only completed in adolescence or early adulthood.
The work-up includes: clinical examination by a craniofacial team, hearing test and ENT assessment, ophthalmological examination, 3D imaging of the facial bones, in OAVS imaging of the spine as well as work-up of heart and kidneys if suspected. Genetic counselling can be useful as a supplement.
Ideal is care by a team with oral and maxillofacial / craniofacial surgery, ENT and audiology, ophthalmology, paediatrics, orthodontics, speech therapy, physiotherapy, genetics as well as psychology.
The prognosis is favourable: intellectual development and life expectancy are usually normal. Severity and individual course are however very variable. With early hearing and airway provision and staged reconstruction, most affected people achieve good function, symmetry and quality of life.
Very variable severity; treatment by severity (OMENS) over years.
OMENS classification; secure breathing and feeding; hearing assessment.
Bone-conduction hearing aid; early mandibular distraction for severe airway narrowing.
For marked asymmetry or airway narrowing; timing individual (often preschool to school age); orthodontic guidance.
Reconstruction of the outer ear (rib cartilage or implant) for microtia.
Definitive correction of jaw asymmetry (bimaxillary, chin correction if needed); soft-tissue augmentation.
Hearing, teeth, facial nerve, psychosocial aspects.
Typical course – highly individual. Timing, order and type of procedures are always determined individually at the specialised centre and may differ markedly. This is based on established craniofacial treatment concepts (incl. ERN CRANIO). See also Treatment pathways and Craniofacial library.
Further pages on this condition – diagnostics, treatment, cross-cutting topics and research.
Selected authoritative external sources on this condition.
External third-party sites; linked, not hosted. Not a recommendation in individual cases; does not replace medical advice.