Craniofacial anomalies refer to a variety of deformities that occur in the growth of the head and facial bones. These abnormalities, which are present when the baby is born, vary greatly in severity and come in many different forms. Treatment will depend upon the child’s overall health, age, symptoms and severity.
What Causes Craniofacial Anomalies?
Craniofacial anomalies aren’t attributed to one single element, although certain factors have been identified as contributing to their development. Those factors include:
- Genes: The particular combination of genes a child receives from one or both parents could be a contributing factor to craniofacial anomalies, or they could be caused by a change in the genes at the time of conception.
- Environment: Although the full effect of environmental exposure on craniofacial abnormalities is still unclear, it is believed to be a contributing factor.
- Folic acid deficiency: Women who do not take folic acid during their pregnancy appear to be at a higher risk of having a baby with certain birth defects, including cleft lip and cleft palate. Information about folic acid in pregnancy can be found here: https://www.cdc.gov/ncbddd/folicacid/about.html
Dallas Fetal Care Center treats many different types of craniofacial anomalies. Here’s a look at some of the most common types of craniofacial conditions we treat:
Cleft Lip and Cleft Palate
These two conditions are the most common congenital craniofacial anomalies. They refer to a separation that appears either in the lip or the palate (roof of the mouth). The lips and palate originate from three areas of the baby’s developing face, and proper development occurs when these structures grow toward the center of the face and fuse together. A cleft lip happens if the tissue that makes up the lip does not join completely before birth, resulting in an opening in the upper lip. The degree of the cleft can vary greatly from a small slit or to a large opening that goes through the lip into the nose and nasal cavity. In most cases, a prenatal ultrasound can detect cleft lip and/or palate as early as 16 weeks into a pregnancy.
Treatment for a cleft lip / cleft palate usually involves reconstructive surgery to repair the defect within the first year of life. Long-term prognosis for isolated cleft lip / palate is good. However, other supportive services may be required to manage possible feeding issues, hearing difficulties, speech problems, or dental abnormalities.
In this condition, the tissues on one side of the face are underdeveloped. Both sides of the face may be affected in some cases, and this usually occurs asymmetrically. Hemifacial microsomia primarily affects the ear, mouth, and jaw areas; however, it can also affect some of the nerves in the face and may even other parts of the body.
This condition is the result of poor blood supply to the face during the fetal stage of pregnancy, and it can also be genetic as part of a variety of syndromes (notably Goldenhar syndrome). The condition is typically non-progressive, meaning that the areas of the face that are affected at birth will typically remain similarly affected throughout growth and development. Treatment varies significantly from patient to patient depending on the severity of the condition. The goal of treatment is to balance the appearance of the two sides of the face as much as possible. Depending on the particular characteristics of each child’s condition, patients may be referred for surgery to correct jaw or ear abnormalities.
Children born with hypertelorism have an abnormally large distance between their eyes. This deformity may be unilateral or bilateral, symmetric or asymmetric and may be present in a variety of craniofacial conditions. Physicians must identify the underlying cause, which will determine how it is treated. Surgery is the only effective treatment and involves cutting certain bones to bring the eyes closer together. Surgical repair is usually performed between 5-8 years of age to prevent damage to tooth development.
Hypotelorism is a rather uncommon condition in which a child is born with a decreased distance between the eyes or temples. Often, it is the result of chromosomal abnormalities and commonly diagnosed with trisomy 13 (Patau syndrome). In most cases, it is associated with holoprosencephaly, which is a failure of the brain to divide into two hemispheres.
General prognosis is poor due to a high mortality rate in cases associated with trisomy 13 and severe intellectual disability in those cases associated with holoprosencephaly.
Macroglossia refers to an abnormally large tongue in proportion to other structures in the mouth. It is often is associated with several congenital conditions, including Beckwith-Wiedemann syndrome, acromegaly, primary amyloidosis, congenital hypothyroidism, Down syndrome, and Apert syndrome. In some cases, it can be acquired through metabolic or endocrine conditions, inflammatory or infectious diseases or through trauma. It rarely occurs without other abnormalities present but can be genetically passed down as an autosomal dominant trait.
Treatment will depend upon the underlying cause. Surgery will be recommended in some cases to reduce the size of the tongue, which can improve speech, appearance, chewing, and feeding.
Micrognathia and Agnathia
Micrognathia is a craniofacial condition in which the lower jaw is undersized. It is sometimes referred to as mandibular hypoplasia, and it is fairly common in children. While it may interfere with your infant’s feeding and breathing, it can correct itself as your child grows. Micrognathia can also occur due to other syndromes, including cleft lip, cleft palate, Pierre Robin sequence, Stickler’s syndrome, Beckwith-Wiedemann syndrome, hemifacial microsomia, Treacher Collins syndrome and others. It can be passed on genetically or can be the result of a genetic mutation.
Treatment for micrognathia includes nonsurgical therapies to improve breathing, as well as surgery to correct more severe cases. The prognosis is generally positive, depending upon how early the condition is diagnosed, how it is treated, and how severe it is.
Agnathia is a rare condition in which one or both jawbones are partially or completely missing. It is usually associated with otocephaly and is characterized by the absence of the mandible (jawbone) with the ears fused together just below the chin. It can be the only abnormality displayed or may occur in conjunction with other developmental defects. The majority of fetuses with agnathia will result in miscarriages or stillbirths, and the condition is not compatible with life.
Microphthalmia and anophthalmia are rare eye conditions that develop during pregnancy. Microphthalmia is a disorder in which one or both eyes are abnormally small, while anophthalmia is the absence of one or both eyes. Both disorders are often associated with other birth defects; they can be caused by genetic mutations or abnormal chromosomes. Additionally, environmental factors including exposure to toxins, viruses, chemicals and X-rays are believed to increase the risk.
There is no treatment for severe anophthalmia or microphthalmia that will create a new eye or restore vision. Some of the less severe cases can be treated, particularly in children with microphthalmia with some vision. In both cases, prosthetic (artificial) eyes can be used for cosmetic purposes and to promote normal facial growth, although they will not improve vision.