List of Facial Birth Defects

Page content

Overview of Facial Birth Defects

Facial birth defects are conditions that are present in the baby at birth. These defects usually develop during the first trimester of pregnancy when organs are developing. There is no definite cause why birth defects develop but researchers associate these cases to several factors. These include chromosomal abnormalities, exposure to infections in time of pregnancy, Rh incompatibility, folic acid deficiency, prolong exposure to radiation and hazardous chemicals, and alcohol and medication abuse.

List of Facial Birth Defects

Following is the list of common facial birth defects.

Cleft Lip and Cleft Palate

Cleft lip and cleft palate form when the tissues of the upper lip and the roof of the mouth fails to close. Within the first 7 weeks of conception, tissues of the upper lip and palate usually take place. When these tissues fail to close the gap, a cleft often forms. Some affected babies may only develop either a cleft lip or a cleft palate, but there are those that can have both defects.

The causes of these defects are not well-defined. Studies have shown that the number of genes, deficiency in folic acid, use of medications and smoking plays important roles in the development of the defects. If either of the parents was born with a cleft lip or cleft palate, there is a 3 to 5% chance that the child will have the same.

These facial birth defects can also be seen in several congenital syndromes. Examples are Trisomy 13 and Trisomy 8. Trisomy 13, or Patau syndrome, occurs due to the presence of an extra chromosome 13, while Trisomy 8 occurs due to the presence of an extra chromosome 8. Deletions in some parts of chromosome 4 and 18 can also result in a cleft palate, a cleft lip or both. Other syndromes caused by microdeletions in some chromosomal parts include Smith-Magenis syndrome and Velocardiofacial-Di George syndrome. Children affected with these syndromes also manifest with cleft palate.

Clefts are minor facial defects that can be surgically corrected. If unrepaired, the child will have feeding difficulties, speech difficulties, ear infections and dental problems.


Strabismus or cross-eyed is a visual defect where the child’s eyes are not aligned. Children affected with strabismus can manifest with either one or both eyes turning inward, outward, upward or downward.

There are several factors that can cause strabismus. These include genetics, inappropriate brain development, trauma and injury. A syndrome associated with strabismus is Williams syndrome. Williams syndrome occurs due to microdeletion in chromosome 7. A deletion in some parts of chromosome 4 may also present with strabismus.


Micrognathia is characterized by a smaller than normal jaw which can affect the feeding of the child. It is often associated with Trisomy 18, also referred to as Edwards syndrome. Edwards syndrome occurs due to the production of another chromosome 18. Deletions in some parts of chromosomes 13 and 21 may also manifest with micrognathia.


MedSolution: Face Defects / Deformities Hemifacial Microsomia