Craniofacial Abnormalities: 5 Types Of CFA


Craniofacial Abnormalities

Craniofacial Abnormalities

Craniofacial abnormalities (CFAs) result from abnormal development or growth of the baby in the mother’s uterus.

Some CFAs are common, and some are rare, affecting more than one body system.

The bones in the face, the jaw, and the skull can be affected, like the eyes, nose, ears, and mouth.


As the cells that become human embryos develop, they differentiate and form various structures in the body.

Sometimes, the formation of these structures doesn’t occur as it should and result in abnormalities in the shape, structure, and function of the parts of the head and the face.

These abnormalities can result from the action of a particular gene (a piece of genetic information that influences the development of a physical trait), a chromosome (a structure that contains many genes), or the interaction of these genetic factors with environmental factors, such as chemical exposure or nutrition.


Craniofacial abnormalities can involve the skull, face, ears, eyes, nose, and jaw. They may occur singly or as part of a syndrome that involves other health issues as well.

The following describes some CFAs.

Cleft lip/cleft palate

The most common CFA is a cleft lip or a cleft palate. About 1 in every 700 infants is born with this CFA.

A cleft lip has an opening, or cleft, between the left and right sections of the upper lip, which can range in extent from a small notch to an opening that goes up to the nose.

Like the lip, the palate (the roof of the mouth) can be malformed during pregnancy to leave a gap between the two sides. A child can be born with either or both.

Surgery can repair cleft lip and cleft palate. When the lip or soft palate is involved, surgery may be done when the child is three to six months of age; hard palate surgery can be done when the child is older, between 15 and 18 months.

Some children need extra dental care or speech therapy, in addition to surgery to repair this CFA.

The likelihood of cleft lip and cleft palate is reduced when a mother takes folic acid before and during the first three months of pregnancy.

Skull CFAs

CFAs can affect the size, shape, and development of the skull.

When a baby is born, the skull may be smaller than those of the same age and sex. A baby may develop this condition, called microcephaly, because of

  • Exposure to drugs, alcohol, and certain chemicals while in the womb
  • Infection by a pathogen, such as the Zika virus, while in the womb
  • Chromosomal abnormalities
  • Uncontrolled phenylketonuria (PKU) in the mother; PKU is the inability to break down the amino acid phenylalanine, which is found mostly in protein-containing foods
  • Severe maternal malnutrition during pregnancy
  • Shortage of oxygen during pregnancy or delivery

Microcephaly cannot be corrected, but children can receive supportive services to help with their developmental issues, such as occupational and speech therapy.

Other babies may be born with a larger skull than babies of the same sex and age. This is called macrocephaly.

It can be normal, especially if it is proportional to the body (big babies have big heads) and large heads run in the family.

Macrocephaly can result from conditions caused by genetic factors.

Sometimes treatment of macrocephaly is unnecessary, but that determination is best left up to the doctor.

For example, treatment is necessary in cases of hydrocephalus (excess fluid on the brain), a layer of fluid builds up between the brain and the skull.

Under normal conditions, this fluid drains out, but if it is blocked, it can build-up, increasing the pressure on the brain.

Babies with hydrocephalus are often listless and irritable; seizures and intellectual disabilities can result without treatment.

When an infant is born, the plates of the skull are not solidly molded together. Instead, they lie side by side like puzzle pieces.

The edges of the bones, or sutures, begin to harden and bind the bones together as the child grows.

Simultaneously, this process does not always happen as it should, and the sutures close too early.

This condition, craniosynostosis, can affect the brain’s growth and cause the skull and face to grow asymmetrically.

Craniosynostosis can be part of other medical conditions, including Crouzon syndrome, that also involves other physical problems. Other instances may have no apparent cause.

In some cases, a baby with craniosynostosis can be fitted with a helmet that will control and correct the skull’s shape as the baby grows.

A helmet can also be used when one side of the skull has become flattened because the baby lies in one position too much.

However, most cases of this CFA require surgery to correct the problem. For a baby under three months old, the surgeon removes the suture that has closed too early with endoscopic surgery.

Babies over three months require open surgery, and the surgeon cuts through the skull bones and implants plates that the baby’s body will absorb as it grows.

Eye CFAs

Eyes can be affected by craniofacial abnormalities. They may be missing; a condition called anophthalmia is found in more than 50 different conditions or lacks certain parts, such as the optic nerve, iris, retina, or eyelids (coloboma).

The eyes may be present but too small (microphthalmia). They may be too close together (hypotelorism) or too widely set (hypertelorism); hypertelorism, like anophthalmia, can occur with other problems, such as with a jaw that is too small.

Jaw CFAs

The jaws, both upper and lower, can experience CFAs as well. An upper jaw that is too small can result in the center of the face appearing sunken. This is called maxillary hypoplasia.

The lower jaw, or mandible, maybe too small; in this case, the child may have difficulty eating or breathing.

Micrognathia is associated with other syndromes, including Treacher Collins Syndrome and the Pierre Robin sequence.

In some cases, the mandible may be missing partly or completely, a condition called agnathia.

Often, malformations of the ears, salivary glands, jaw muscles, and temporal bone will be present. Reconstructive surgery can help.

Multiple CFAs

CFAs can occur singly or as part of an overall syndrome that involves multiple abnormalities and health issues.

Brought to public attention through the book and movie Wonder, Treacher Collins Syndrome is an inherited genetic illness that affects the development of the facial bones.

Children with this syndrome have small chins and jaws and eyes that slant downward; they may also have hearing and vision difficulties.

It is a chronic and scarce condition, with fewer than 20,000 new cases each year in the United States. While surgery can help, Treacher Collins cannot be cured.

A disorder called Pierre Robin sequence can sometimes occur with Treacher Collins Syndrome.

Although the exact causes of Pierre Robin are unknown, the disorder follows a particular sequence of events that begin between the 7th and 10th week of pregnancy.

At that time, the lower jaw normally grows quickly, and the tongue separates from the palate, which then closes.

However, in Pierre Robin, the jaw remains small, and the tongue stops the palate from closing properly; the small jaw leads to the tongue being placed further back than usual (glossotopsis).


A craniofacial abnormality can have a huge impact on a child’s social development.

A 2017 study by the University of California found that elementary-school-age children (8-10 years old) born with CFAs have higher levels of depression and anxiety and more difficulty interacting with their peers than middle- or high-school students were born with CFAs.

They reported more teasing and bullying than did students in the 11-13 or 14-17 age groups.

This suggests that children in elementary school need better information and education about what CFAs are. The children with CFAs need close monitoring and intervention if and when signs of distress occur.

The impact isn’t limited to children. Other studies have shown that facial or dental differences have a significant impact on adults as well.

They are sometimes perceived as less attractive, less capable, less intelligent, and less trustworthy.

Adults with CFAs report being more self-conscious and having lower self-esteem than control subjects in the studies, no matter their gender or where they live (urban or rural settings).

Treatment for people with craniofacial abnormalities is often intensive during the early years.

Many affected children require multiple surgeries and therapies to achieve maximum physical function.

Inclusive community and educational support help maximize the quality of life for people of any age with CFAs.



“Birth Defects of the Face, Bones, Joints, and Muscles.” Merck Manuals Consumer Version.,-bones,-joints,-and-muscles (accessed February 11, 2020).

“Craniofacial Anomalies.” MedlinePlus. April 25, 2019. (accessed February 11, 2020).

“Overview of Craniofacial Anomalies.” Stanford Children’s Health, Lucile Packard Children’s Hospital. (accessed February 11, 2020).


Children’s Craniofacial Association, 13140 Coit Road, Suite 517, Dallas, TX, 75240, (800) 535-3643,,

FACES: The National Craniofacial Association, P.O. Box 11082, Chattanooga, TN, 37401, (800) 332-2373,, https://