Craniofacial Anomalies: Diagnoses and Conditions Treated

  • Apert Syndrome is a genetic disorder distinguished by abnormalities in head size and shape and fused fingers and toes.
  • Craniosynostosis is a condition where the bones in a baby’s skull fuse together too soon, causing the brain to grow in ways that result in irregular head shape or facial features. Most cases are considered non-syndromic craniosynostosis, meaning they are not accompanied by other deformations in the body. Syndromic craniosynostosis occurs less frequently, and is accompanied by other internal and external birth defects.

Craniofacial Anomalies

Craniofacial anomalies are a diverse group of deformities in the growth of the head and facial bones.

  • Crouzon Syndrome affects the skull, face, and heart. It is a genetic syndrome, which is due to a mutation on the FGFR2 or FGFR3 gene.
  • Deformational “positional” plagiocephaly, or “flat head syndrome” is a type of abnormal head shape where bones in the skull are abnormally shaped by outside forces. This condition doesn’t require surgery, and may be fitted with a customized helmet to help reshape growing bones.
  • Facial paralysis is weakness or complete lack of motion of part or all of the face. It can involve one or both sides of the face. This decreased or lack of motion causes asymmetry and can lead to both functional and social interaction issues.
  • Facial reanimation is a series of procedures to restore facial nerve function that has been paralyzed due to disease or injury.
  • Facial trauma describes any damage done to the face that could permanently change the shape of facial features as well as function of the ears, mouth, nose, or eyes. Treatment depends on the type and location of trauma.
  • Hemifacial microsomia is a congenital (existing at birth, but not necessarily genetic) disorder that typically causes deformations of the soft tissue or bone of the mouth, upper and/or lower jaws and ears that can continue into childhood.
  • Hypertelorbitism also known as orbital hypertelorism, is an abnormally increased distance between the orbits (the bony sockets holding the eyes).
  • Jaw abnormalities, or malformations in the way the jaw develops or functions, can be caused by either disease or trauma. Treatment varies depending on the cause of the abnormality.
  • Microtia is a deformity where one or both ears are underdeveloped externally. Treatment seeks to rebuild external ear structures and restore hearing.
  • Pierre Robin Syndrome is a condition associated with a small jaw (micrognathia), cleft palate and obstructed airway due to improper growth of the tongue (glossoptosis).

While this list provides an idea of the conditions our team treats, this is not a comprehensive list. Please contact us with questions on other conditions our team treats.