Craniofacial Abnormalities

Also known as: craniofacial anomalies, CFA, birth defects

What are craniofacial abnormalities?

Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face. The different abnormalities that can occur do so from different growth patterns of the face or skull and include some of the most common and rare birth defects that affect newborn babies (common; most infants with cleft lip/cleft palate- rare; Treacher Collins syndrome). They are also sometimes referred to as craniofacial anomalies.

What causes craniofacial abnormalities?

Frequently there is no single cause; instead researchers believe that some combination of genetic factors from one or both parents, environmental factors, such as exposure to harmful chemicals, and/or a deficiency of folic acid may play a role in the development of craniofacial abnormalities.

What are the symptoms of craniofacial abnormalities?

The symptoms of craniofacial abnormalities vary widely depending on what type of craniofacial abnormality is present. They can range from very mild, to severe problems involving eye sight, hearing issues and/or learning disabilities.

What are craniofacial abnormality care options?

Treatments are available for many craniofacial abnormalities and will vary widely based on the nature of the condition. Some minor abnormalities require no medical treatment, while anomalies like cleft lip and palate can be repaired surgically. Some more serious craniofacial abnormalities may cause permanent damage, but treatments are still available that offer supportive care to the child and family.


Reviewed by: Jack Wolfsdorf, MD, FAAP

This page was last updated on: July 06, 2021 04:20 PM

Pediatric Craniofacial Center & Clinic

The Craniofacial Center at Nicklaus Children's Hospital is Florida’s only specialty center for children with craniofacial disorders offering comprehensive management for infants, children, and young adults with craniofacial disorders.

Learn more

Learn more about

Treacher Collins Syndrome

Treacher Collins is a genetic disorder that impacts how the face develops. Specifically, it can cause abnormal development of the jaws, ears, eyelids and cheekbones. Learn more

Cleft Lip and/or Palate

A cleft lip and/or palate is characterized by the presence of a gap (split) in the lip and/or palate seen at birth when the tissues of the lip and/or palate don't come together at all, or come together only part of the way. Learn more

Microcephaly

When a newborn baby or an infant's head is found to be much smaller than normal for its age, the condition is known as microcephaly. Learn more

Williams Syndrome

Williams syndrome is a rare genetic disorder that causes short stature, developmental delay, unique facial features and growth delays, among many other symptoms including heart problems. Learn more