5 Diagnoses That Require a Craniofacial Doctor

The term “craniofacial” refers to the head and facial bones, and it might surprise you to learn that craniofacial abnormalities are actually one of the most common of all birth defects, occurring in more than 130,000 children worldwide each year. These craniofacial abnormalities require the help of a specialized doctor who understands and can correct these problems. Here are five things that a craniofacial doctor could diagnose and treat.

Cleft Lip & Cleft Palate

Perhaps the most widely known of all craniofacial abnormalities is a cleft lip and/or a cleft palate. This type of abnormality occurs during the first trimester of growth, and when the child is born they will have a visible separation in the middle of the lip that could be small or could reach all the way to the nose, or in the palate at the top of the mouth. In some cases a child will have both together. It happens as commonly as 1 in 500 to 1 in 2000 births (it’s more common in some racial groups than others). It’s a problem that can impact everything from speech and the ability to chew and swallow food properly to hearing problems. Today the condition can often be diagnosed before birth and families can meet with a surgeon to discuss options to repair it.

Positional Head Deformities

Changes in the shape of an infant’s head can put pressure on the skull and cause problems for the child’s development. The prevalence of these deformities has increased in recent decades because the American Academy of Pediatrics recommends that babies sleep on their backs to prevent sudden infant death syndrome (SIDS), but that can lead to a flat head on one side and the ear and forehead on that side rotating forward. These skull deformities can be corrected non-surgically in many cases, as long as they are diagnosed early.


The skull growth plates inside an infant’s head are not fused together (causing what many refer to as “soft spots”), but when these growth plates prematurely close it can impact a child’s proper development and growth. These conditions can be genetic, but in most cases are spontaneous and the result of conditions in utero. Craniosynostosis can be:

  • Metopic (Trigonocephaly)
  • Saggital (Scaphocephaly)
  • Coronal (Plagiocephaly)
  • Lambdoid (Posterio plagiocephaly)

In each case, surgical treatment is usually the best option, ideally between 4 and 10 months of age.

Hemifacial Microsomia

This condition occurs when the ears and jaw on one side of the face are underdeveloped. In some cases it also involves the eye, and in about 15 percent of cases it involves both sides of the face. The resulting asymmetry of the face can lead to an abnormal bite, psychosocial issues, and hearing loss. The exact cause remains unknown (it happens in about 1 out of 5000 births), and treatment depends on the severity of the condition as well as the child’s age.

Treacher Collins Syndrome

It’s one of several syndromes that can occur in the craniofacial area, but this is usually a rare congenital condition that is inherited. It impacts every area of the face, including bones, jaw, skin, and muscles. It’s the result of a bilateral cleft combination and is identified by flattened cheek, downward-slanting eyelids, and underdeveloped mandible and ears. It mostly causes problems with hearing, airway, and occlusion.

If you have questions about craniofacial abnormalities, call or schedule a time to talk to our craniofacial doctor today.

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