Craniofacial Anomalies

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The term “craniofacial anomalies” refers to a broad group of birth defects that affect the head (“cranio”) or face. Depending on the type of craniofacial anomaly a child has, the condition may resolve on its own or require surgery to repair. Craniofacial anomalies occur in both boys and girls and may be apparent at birth or may emerge after a few months of life.

Types of Craniofacial Anomalies
cleft lip/cleft palateThe most common craniofacial anomaly is a cleft lip and/or cleft palate. In a cleft lip, the lip does not completely form during pregnancy. A cleft lip can range from very mild (with just a small notching of the lip) to severe (with large opening from the lip up through the nose). A cleft palate is a more significant condition, in which the roof of the baby’s mouth does not completely close during pregnancy. As with cleft lip, there is a range of severity in cleft palate, with some that extend into the nose and some that extend from the front of the mouth all the way to the throat. Cleft palate may also include cleft lip. (Find out more about Cleft Lip/Cleft Palate.)

The sutures of an infant skullThe condition called craniosynostosis results when the soft spots between the bones of a baby’s skull close too early, causing a misshapen head. This type of craniofacial anomaly is one of the most common forms seen by neurosurgeons. In the majority of situations the manifestations are a cosmetic issue and have no relationship to the child’s expected developmental or cognitive outcome. Premature closing of the soft spots rarely limit the normal growth of the brain or cause pressure to build up inside the skull. (Find out more about Craniosynostosis.)

Hemifacial microsomia refers to a condition that usually affects just half the face. Children with hemifacial microsomia have underdeveloped tissue on one side, affecting primarily the ear, mouth, and jaw. In rare cases, both sides of the face and sometimes even the skull may be affected. Hemifacial microsomia is also known as Goldenhar syndrome, brachial arch syndrome, facio-auriculo-vertebral syndrome (FAV), oculo-auriculo-vertebral spectrum (OAV), or lateral facial dysplasia. (Find out more about Hemifacial Microsomia.)

Deformational plagiocephalyDeformational (or positional) plagiocephaly most commonly occurs in a baby who frequently sleeps in the same position. Plagiocephaly literally means "oblique head" (from the Greek "plagio" for oblique and "cephale" for head).  It’s caused by frequent pressure to the same area of the head — such as the flattened back of the head in a baby who spends lots of time on his or her back. It generally resolves itself without treatment. (Find out more about Deformational Plagiocephaly.)

Vascular malformation is a general term that refers to either a birthmark or a growth that’s made up of blood vessels and that can be unsightly or can cause more serious health problems.There are several different types of vascular malformations, named according to which blood vessel is involved. Vascular malformations include lymphangiomas or arteriovenous malformations.

Hemangioma is a common vascular birthmark, often called a port wine stain, strawberry hemangioma, or salmon patch. It  may be present at birth as a faint red mark or it may appear in the first few months of infancy. Some hemangiomas go away on their own; others require treatment.

What Causes Craniofacial Anomalies?
There may be several reasons that an infant is born with or develops a craniofacial anomaly, including genetics, possible environmental factors, or a folic acid deficiency during pregnancy.

Find out more about the Craniofacial Program at the Weill Cornell Pediatric Brain and Spine Center

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Reviewed by: Mark Souweidane, M.D.
Last reviewed/last updated: January 2013
Illustrations by Thom Graves, CMI