Key Points about Craniofacial Microsomia

  • Craniofacial microsomia is the second most common facial birth defect after cleft lip/palate.
  • Those with craniofacial microsomia may have abnormal development of the ear, lower jaw and mouth.
  • Craniofacial microsomia has many other names including: first and second brachial arch syndrome, oral-mandibular-auricular syndrome, lateral facial dysplasia or otomandibular dysostosis.

Craniofacial microsomia causes

The cause of craniofacial microsomia in most cases is unknown. However, this condition results from complications in the development of structures in the embryo.

Those with craniofacial microsomia will have differences in the face. This can affect one or both sides.

Severity differs, but generally includes the abnormal development of the:

  • Ear
  • Lower jaw (mandible)
  • Mouth

Craniofacial microsomia risk factors

The risk of getting craniofacial microsomia stems from the disruption of the embryo, specifically the first and second pharyngeal arches. 

The risk of developing craniofacial microsomia may be contributed to:

  • Chromosome deletions or duplications
  • Family inheritance of an unknown gene mutation
  • Environmental factors, which may include certain drugs a mother is taking during pregnancy

Craniofacial microsomia diagnosis

To diagnose if a child has craniofacial microsomia, a thorough examination of the face and head is performed.  The use of X-rays and CT (computed tomography) scans may also help determine the severity and coming up with a treatment plan.

Craniofacial microsomia treatment

Craniofacial microsomia is a complex condition that requires multiple stages of treatment over the course of the patient’s lifetime. Determining treatment may depend on the child’s age and how the condition affects them.

Treatment options may include:

  • Surgical treatment to restore the child’s jaw position begins during late childhood or early adolescence. This will depend on the severity of the child’s condition.
  • Surgical treatment using a rib graft or mandibular distraction may be performed in certain cases.
  • A bone anchored hearing aid (BAHA) may be an option for children with both sides of their face and ears affected.