Syndromes Associated with Cleft Lip and Palate

Understand the syndromes associated with cleft lip and palate

Pregnancy is different for every mother. Some find it easy and joyous while other moms find it difficult. A very common characteristic of all soon to be moms is the worry they have regarding the baby's health. Continue reading to learn the syndromes associated with cleft lip and palate.

This is where knowledge can help. Knowledge offers confidence and power. Working closely with your doctor, a lot can be learned about what to expect during and after pregnancy. Having knowledge also helps a person prepare for the unexpected.

Complications may arise. In fact, every year in the United States, over 150,000 babies are born with some type of birth defect. A birth defect can be classified as low birth weight, cardiac or chromosomal diseases. Cleft lip and cleft palate are additional disorders that may occur in newborns.

According to the Center for Disease and Prevention's statistics, over 2,600 babies are born each year with a cleft palate and close to 4,500 are born with cleft lip.

Cleft lip and cleft palate happen when the facial structures do not close all the way during the process of developing in the womb. Cleft palate, specifically, is an opening in the roof of the mouth. Cleft lip is an opening or split in the upper lip. Some babies are born with both cleft lip and cleft palate. Some are born with just one of the disorders.

The major syndromes associated with cleft lip and palate

There are three major syndromes associated with cleft lip and palate. The most common is Pierre-Robin Sequence (PRS).

Pierre-Robin Sequence (PRS)

The instances of PRS are low, with one in 14,000 babies having it. This disorder is diagnosed in babies who are born with cleft and also have a very small chin. Because the chin is so small, there is a possibility of the tongue taking up more room in the baby's mouth than it should. This can affect breathing and airflow in the baby.

The good news is that there are surgeons who can fix PRS between the first nine and 18 months after your baby is born. Because the chin continues to grow throughout childhood, it is likely a baby with PRS will grow into normal adulthood.

There are times a child born with a cleft disorder who has PRS, will also have the Stickler Syndrome.

Stickler Syndrome

Stickler syndrome disease is even more rare than PRS and can even go unnoticed. This may be because it is linked to genes and collagen not forming correctly. Once it is diagnosed, treatment can address the symptoms and is best when done with a team of professionals. For instance, if eye sight is affected, working with an ophthalmologist will be the best source of help.

DiGeorge Syndrome

DiGeorge syndrome is the final disorder associated with cleft lip and palate. It also carries the name 22q11.2 deletion syndrome.

DiGeorge affects the 22nd chromosome at the q11.2 location. Basically, it is a type of immune deficiency disease that happens because of an abnormal formation of certain tissues during development.

Many of the babies born with DiGeorge syndrome have additional medical diseases. These include heart abnormalities, recurrent infections or autoimmune disorders like rheumatoid arthritis. However, the survival rate is extremely high. Early diagnosis makes a big difference. Being proactive and taking preventative and healthy actions can also aid in coping with this syndrome.

Cleft lip and palate treatments

While having a baby born with cleft lip or palate can seem overwhelming at times, there are at least three things you can do to take to ease anxiety and help focus on the new baby.

  • Build a support system, preferably a group of moms or dads who have children with a cleft lip or palate disorder. It is important to communicate with people who can understand and relate to the situation.
  • Build a team of specialists. A team should be based on the specific needs of the child. It may include a family doctor, surgeons, speech therapists, audiologists and even school related early intervention specialists.
  • Research and planning can begin before the baby is born since detection of cleft lip and cleft palate disorders can be recognized through ultrasounds. As soon as the diagnosis is confirmed, start preparing for the baby's treatment plan of action. Also plan to counter all medical related activities with positive activities in which all other babies are participating to increase socialization skills. Just because a baby has cleft lip or palate, or any other abnormality, doesn't mean they can't have a long and happy life.
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Last Reviewed:
July 17, 2017
Last Updated:
October 25, 2017
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