Synonyms
Oculo-auriculo-vertebral spectrum (OAVS), hemifacial microsomia.
Estimated occurrence
1:50 000 live births.
General symptoms
The following deformities may occur:
Craniofacial: facial asymmetry and underdeveloped jaws (hemifacial microsomia).
Auricular: underdeveloped ears and ear canals, and little 'tags' of skin or cartilage in front of the ear.
Eyes: white lumps on the edge of the cornea (epibulbar dermoids) and eyelid deformities (eyelid colobomas).
Skeletal: vertebral anomalies.
Cardiac: The most common defect is ventricular septum defect (VSD) and Fallot's anomaly.
Hearing impairment and squinting are common.
Orofacial/odontological symptoms
Skeletal asymmetry, and a small lower jaw. Facial hemiplegia may occur. Sucking difficulties are common in newborns, own to the craniofacial deformities, narrow airway and/or cardiac defect. Many of these children have to be tube fed. Even older children and adults may have eating difficulties. Narrow airways may result in snoring problems and sleep apnea (frequent suspension of breathing while asleep).
Orofacial/odontological treatment
- Children with eating difficulties often require extra dental care, including help with oral hygiene and fluoride treatments.
- Eating and swallowing problems will need to be investigated and treated by hospital specialist teams (either a nutrition team or a dysphagia team, or by other multidisciplinary treatment specialists.)
- Snoring problems should be followed up by a physician.
- Individuals with cardiac defects may require prophylactic antibiotics when oral interventions associated with bleeding are undertaken.
Sources
The rare disease database of the Swedish National Board of Health and Welfare.
The MHC database - The Mun-H-Center database of orofacial manifestations in rare diseases.
