One out of every 33 babies is born with a congenital (“from birth”) anomaly, and orofacial clefts are the second most common type.
Orofacial clefts are considered “structural” anomalies, because they affect the actual shape of body structures, rather than the functioning of chemicals “behind the scenes.”
In this guide, we’ll cover a specific type of orofacial cleft: the cleft palate.
What Is A Cleft Palate?
A cleft palate is a birth defect that occurs when the roof of a baby’s mouth does not form properly early during embryonic development.
The palate, or roof of the mouth, is made of two components:
- the hard palate – a thin layer of bone attached to the skull that spans the arch between the upper teeth
- the soft palate – a layer of soft tissue that covers the hard palate and extends all the way to the opening of the throat
In babies born with cleft palate, both the hard palate and soft palate can be “split” by an opening. Many cases, though, involve only one of the palates.
Some babies are born with a “submucous” cleft palate, which means that the split is covered by a layer of mucous membrane. While submucous clefts can involve openings in both the hard and soft palate, they are generally harder to identify upon sight.
Babies can also be born with both a cleft palate and cleft lip.
Does A Cleft Palate Hurt?
Neither cleft palate nor cleft lip cause babies to feel physical pain. Babies with orofacial clefts are able to make facial expressions without pain, too.
How Common Is Cleft Palate?
Studying birth records between 2004 and 2006, the US Centers for Disease Control & Prevention estimated that one in every 1,574 babies were born with an isolated cleft palate, without a cleft lip.
Since 4,265,555 babies were born during 2006, we can estimate that around 2,710 babies were born with isolated cleft palate that year. Whether or not the incidence of cleft palate has changed since then is unknown.
According to the American Academy of Otolaryngology, submucous cleft palate is more common, affecting around one in 1,200 babies.
Isolated cleft palate is more common in female children.
How Does A Cleft Palate Happen?
Before the third week of development, an embryo’s “head” is little more than a ball of cells. But between the fourth and sixth weeks, all that changes. Several areas of the head begin to swell, pushing outwards. Over time, these protrusions merge, or fuse together.
Tissue growth begins on either side of the head, and a baby’s face is created through a process of “meeting in the middle.” The lip and palate will fuse sometime during the second and third months of pregnancy.
We can see evidence of this process in the groove, or “philtrum” directly below the nose. The two lines on either side of the groove are where multiple portions of tissue came together, fusing to create the philtrum.
Of course, an opening is left in the head’s lower region for a mouth. But it’s still created by tissues coming together from the sides, and meeting in the center. Inside the mouth, a similar process is occurring. Some of the tissues in here will eventually become bone, around 13 weeks of pregnancy. But at this time, they’re still soft and muscular.
In babies born with cleft palate, something stopped the tissues of the palate from meeting in the middle. Instead, they remained separated.
Sometimes the cleft extends all the way back, and the uvula is cleft as well. Your uvula is the dangling bit of tissue in the back of your mouth that looks like a teardrop. Researchers still aren’t certain what function the uvula plays, although it may help us create certain speech sounds.
What Causes Cleft Palate?
While researchers are often unsure what caused any one particular case of cleft palate, most believe that two factors are at work:
Genetics and environment.
Genes are like the computer program of the human body. Every cell has its own set of genes, and the genes are coded with information. This information tells the cell which proteins to make, when to make them and how many.
Proteins are one of the body’s essential building blocks. In fact, they’re regularly referred to as the “actors” within cells. Almost every other molecule inside a cell would just sit there, doing nothing, without proteins to come along and do something with them.
An embryo’s genes are inherited from its mother and father. But little mistakes can be buried inside this genetic information. One of these mistakes seems to inhibit the production of soft tissue in the palate, leading to a cleft.
Certain genetic anomalies result in “syndromes,” conditions with more than one characteristic feature.
Orofacial clefts have been identified as a symptom in more than 300 separate genetic syndromes.
The most common is probably van der Woude syndrome, characterized by cleft lip, palate, or cleft lip and palate, as well as small pits in the lower lip.
Velocardiofacial syndrome, Shprintzen syndrome and 22q11.2 Deletion syndrome are all names for the same genetic condition. Characterized by congenital heart defects and developmental delays, velocardiofacial syndrome is one of the only genetic disorders characterized specifically by an isolated cleft palate.
Pierre Robin sequence is another syndrome with cleft palate as a specific feature. It’s called a “sequence” because one of its characteristics, an abnormally small lower jaw, causes all the others. Children with Pierre Robin sequence are also born with tongues positioned further back than is normal.
Although these genetic disorders are extremely rare, around 15% of all orofacial clefts are the result of a syndrome with other developmental effects.
You can find more resources, including links to support groups, for children and families affected by genetic syndromes on our sister site, CleftSmile.org.
When ingested by a mother, certain chemicals also seem to affect the early development of an unborn baby. These substances enter the mother’s blood stream, flow into the placenta and are then transferred to the fetus’ blood. Chemicals that can harm a developing baby are sometimes called teratogens.
Alcohol and smoking have both been linked to an increased risk of cleft palate.
Here’s an incomplete list of prescription medications that have been associated with cleft palate in clinical studies:
- Anti-epileptic drugs, including Dilantin and Depakote
- Fluconazole (a common treatment for yeast infections), sold as Diflucan
- Isotretinoin, an acne medication sold as Accutane
To learn more about prescription drugs and their link with orofacial clefts, click here.
How Is Cleft Palate Diagnosed?
Cleft palate is usually diagnosed upon birth after a physical exam. A new trend, though, has physicians diagnosing orofacial clefts much earlier, by ultrasound.
Some clefts become apparent on ultrasound by the 18th week of development, although recognizing a cleft palate is more difficult because the frequencies emanated by an ultrasound machine can’t always enter an unborn baby’s mouth.
The advantage of diagnosing with an ultrasound is that a physician can then perform amniocentesis. By testing amniotic fluid, researchers can identify genetic syndromes early if they are present.
“Hidden” by soft tissue, submucous cleft palates can go undiagnosed for months or years. These conditions are commonly diagnosed when children begin to talk, and present abnormally nasal speech.
Effects & Complications Of A Cleft Palate
Most children born with cleft palate go on to lead healthy, happy lives. With that being said, there are several challenges commonly faced by babies with orofacial clefts.
One of the palate’s primary functions is to assist in sucking and feeding. By closing the nasal passages off from the mouth as we swallow, the palate ensures that food and liquids go down our throats and not up into our noses.
With a cleft palate, babies may have difficulty creating the adequate pressure necessary to suckle a nipple. Liquids can also flow upwards, filling the nasal passages. Many babies with cleft palate gag during feedings.
When we sneeze or consume liquids, the palate protects our nasal passages. A smooth, continuous surface forces these substances into the mouth, rather than into the sinuses.
In children with cleft palates, the sinuses become filled with fluid regularly. This can increase the risk of ear infections and, over time, frequent infections can result in permanent hearing loss.
During speech, the palate controls air flow, preventing air from escaping through our nostrils. In addition, many speech sounds are produced by touching tongue to palate.
Children with cleft palates may have nasal sounding speech, as well as difficulty forming certain sounds.
Some clefts extend through the palate to affect the gums, as well. In most cases, this will inhibit tooth development and can also have an affect on the jaw’s alignment.
While society’s perception of people with orofacial differences is changing for the better, children born with cleft palate may face undue social pressures.
Researchers at Belfast’s Queen’s University have concluded that children and adults with cleft lip and / or palate “do not appear to experience major psychosocial problems.” With that being said, they noted that specific difficulties can arise.
Children with orofacial clefts may feel dissatisfied with their facial appearance, as they come to learn that they look “different” from other children. Depression and anxiety are uncommon, but serious, consequences of feelings of isolation or “otherness.”
How Can A Cleft Palate Be Treated?
Because orofacial clefts can result in a wide array of complications, most children will require a team of specialists.
In general, surgical procedures will be required to repair the actual cleft, and then further therapies can address difficulties with hearing and speech.
There are a number of surgeries that can “rebuild” both hard and soft palates and rearrange soft tissues to cover the opening. Cleft palate repair is usually performed between five and fifteen months after birth. As the child grows, and his or her face continues to change, additional procedures may be considered to achieve a more “normal” appearance.
For our full guide on “Treating Cleft Lip & Palate,” click here.