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 for craniofacial anomalies 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 being studied, 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.
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 palate (roof) of the mouth or in the lip. With a cleft lip, the lip doesn’t form completely; a cleft palate occurs when the roof of the mouth doesn’t close completely and leaves an opening that can extend into the nasal cavity.
Surgery is used to close the lip and the palate, although there may be other problems that can range from ear infections to hearing loss to problems with the child’s teeth. Most cleft lip surgery is done in the child’s first 12 months and cleft palate surgery is done within 18 months.
In this condition, the tissues on one side of the face are underdeveloped, although sometimes both sides can be affected. 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 affect 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. Treatment usually involves surgery or using a device to correct your child’s jaw.
Children born with hypertelorism have an abnormally large distance between their eyes. Doctors 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. Although the surgery cannot be done in the very early years of life, as the bones aren’t strong enough, it should be completed by the time a child reaches the age of 8.
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 fetal alcohol syndrome due to the overconsumption of alcohol during the first month of pregnancy.
In some cases, no treatment is required, while surgery may be advised in other situations.
Macroglossia, which refers to an abnormally large tongue, is a condition that often is associated with several congenital conditions, although it can also occur without other abnormalities present. It is usually the result of blood vessel abnormalities and an increase in muscle mass.
In some cases, it can be acquired through metabolic or endocrine conditions, inflammatory or infectious diseases or through trauma.
Treatment will depend upon the cause, and in some cases surgery will be used 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, and it can occur in conjunction with other conditions, including cleft lip, cleft palate, hemifacial microsomia and more. 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 part or all of either one or both jaws is missing. 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 conditions that develop during pregnancy. Both 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.
In microphthalmia, one or both of the baby’s eyes are unusually small, while in anophthalmia, one or both eyes are missing. Some of the less severe cases can be treated, particularly in children with microphthalmia with some vision. In both cases, prosthetic eyes can be used which, although they will not improve vision, can help improve the child’s appearance.