Genetic Disorders:Cleft Lip/ Cleft Palate

AP BiologyMarika Chrisanthopoulos

2013

HistoryCleft lip/palate is a common genetic disorder; cleft lip is more common with cleft palate, however, and The Centers for Disease Control and Prevention (CDC) recently estimated that each year 2,651 babies in the United States are born with a cleft palate and 4,437 babies are born with a cleft lip with or without a cleft palate.

The earliest recognized sightings of children with either cleft lip or palate was during the times of the Greeks and the Romans. While Greeks ignored their existence, Spartans and Romans would kill these children as they were considered to harbour evil spirits.

Before Fabricius ab Aquapendente (1537–1619), these people thought that children born with this disease had it from a combination of superstition and religious reasons. Fabricius was the first to suggest the embryological basis of these clefts.

The first documented Cleft lip surgery is from China in 390 BC in an 18 year old would be soldier, Wey Young-Chi.Right: A woman born with cleft lip surgery that never got any treatment.

Symptoms; Physical-Clefting: this process occurs when part of the tissues involved and forming the lip and/or palate (roof of the mouth) split apart; this causes a malformation in the creation of the lip and mouth.

-Cleft lip: a physical split or separation of the two sides of the upper lip and appears as a narrow opening or gap in the skin of the upper lip. This separation often extends beyond the base of the nose and includes the bones of the upper jaw and/or upper gum.

-Cleft palate: a split or opening in the roof of the mouth. A cleft palate can involve the hard palate (the bony front portion of the roof of the mouth), and/or the soft palate (the soft back portion of the roof of the mouth).

-Orofacial Clefts: a combination of having both a cleft lip and a cleft palate. Left: Visuals of

children diagnosed with either cleft lip or palate.

Symptoms; Physical

As shown in the picture on the right, a child with a normal lip has enough tissue to fully form the lip and the mouth; the picture underneath clearly identifies the lack of tissue to connect the lip on the left side, therefore causing a split in the lip and an expansive hole, connecting the lip to the nostril. The bottom pictures identifies a child with both a cleft lip and palate on both sides; there are two massive holes in tissue in the lip and the palate.

Symptoms; Everyday LifeFor many children and adults diagnosed with cleft lip/palate, there are many actions and hardships involved in their everyday life which may affect their normal routines and lifestyles. Among others, some inclusive are;

-Eating: For infants with a cleft palate, sometimes it is very difficult to keep liquids and foods down and get them to be absorbed regularly; for this reason, special baby bottles and nipples are available that help keep food from coming back out the nose and from going straight into the stomach with more accuracy. Children with a cleft palate may also have difficulty eating as a result of the abnormal sizing and shape, which means that they may have to wear a man-made palate until treatment is available.

To the left: Nipples for bottles made especially for children with cleft palate.To the right: Artificial palate man-made for children with cleft palate.

Symptoms; Everyday Life-Ear infections and hearing loss: Children with cleft palate are at increased risk of ear infections since they are more prone to fluid build-up in the middle ear. If left untreated, ear infections can cause hearing loss. To prevent this, many children with cleft palate usually need special tubes placed in the eardrums to aid fluid drainage, and their hearing needs to be checked once a year.

Above: Visual of a child and an adult with eustachian tubes.Left: Inside view of the ear.

Symptoms; Everyday Life-Speech Problems: Many children with cleft lip/palate have trouble speaking; their tones may take on a nasal sound because their voices do not carry well, making them difficult to understand. For some children, getting surgery will help the problem, but for others, they choose to get special counseling and practice speaking with a speech pathologist.

-Dental Problems: Children with clefts are more prone to a larger than average number of cavities and often have missing, extra, malformed, or displaced teeth requiring dental and orthodontic treatments. They may also have an alveolar ridge defect; which is the bony upper gum that contains teeth. This may cause teeth not to appear or to appear in a distorted way; these problems may be fixed with oral surgery.

Left: An inside view of a child’s mouth; the evidence of distorted teeth and the lack of tissue is shown.

CausesThe immediate cause of cleft lip or palate is unknown; it is caused when there is not enough tissue available to form the lip or the palate, which form separately. This makes it possible for a person to have either cleft lip, cleft palate, or both together.Most scientists think that the reason newborns have this disease is from a combination of genetic and environmental factors; not only from one specific type of influence.

Environmental:Medication the mother may have taken during pregnancy may have caused the disease. Some medications involved include; anti-seizure/anticonvulsant drugs, acne drugs containing Accutane, and methotrexate, a drug commonly used for treating cancer, arthritis, and psoriasis.Another environmental cause may be exposure to viruses or chemicals while the fetus is developing in the womb.

Genetic:It is more likely for a child to get the disease if there is a history of cleft lip or palate in the family; for example, if the mother, father, or another sibling has the disease.

TreatmentSince there are many effects formed by the disease of cleft lip/palate, there are multiple ways to help treat and fix the problems associated with having these deformities.

To help fix the problem of having a deformed lip or palate, oral surgery is commonly performed by a plastic surgeon and an oral surgeon, who specifically repositions segments of the upper jaw when needed, improves function and appearance, and repairs the cleft of the gum.

A cleft lip may require one or two surgeries depending on the extent of the repair needed. The initial surgery is usually performed by the time a baby is 3 months old. Left: Visual of the first

surgery performed on a child and cleft lip; the stitches bonding the tissue is clearly evident.

TreatmentRepair of a cleft palate often requires multiple surgeries over the course of 18 years. The first surgery to repair the palate usually occurs when the baby is between 6 and 12 months old. The initial surgery creates a functional palate, reduces the chances that fluid will develop in the middle ears, and aids in the proper development of the teeth and facial bones. When a child is around 8 years old, they may need to have a bone graft to fill in the upper gum line so that it can support permanent teeth and stabilize the upper jaw. Left: visual of

a child before (far left) and after having cleft palate surgery,

Treatment (Continued)An otolaryngologist (an ear, nose, and throat doctor) is usually needed to evaluate hearing problems and consider treatment options for hearing problems.

To help fix speech and feeding problems, a speech pathologist will assess the child and conclude which means of improvement should be administered; whether it be surgery or speech lessons and therapy.

For dental care, a child usually ends up wearing braces to straighten the teeth after undergoing the specific surgeries necessary to fix the deformed palate and/or lip.

Left: A young girl after receiving cleft palate surgery, now with braces.Right: A visual of the inside of the mouth and the palate.

IdentificationThe visual effects of having either a cleft lip, cleft palate, or both is the main mode of identification of the disease in a child that has been born. For babies in the womb, however; a prenatal ultrasound can sometimes determine if a cleft exists in an unborn child. If the ultrasound has not detected anything, after the birth of a child, a physical exam of the mouth, nose, and palate confirms the presence of cleft lip or cleft palate. A physical exam may be administered to a child to check for other abnormalities as well as cleft lip/palate.Left: A visual of a prenatal

ultrasound of a baby at 20 weeks old.Below: Children diagnosed with cleft lip.

Bioethical ConsiderationsThere are some moral and ethical dilemmas involved in children having either a cleft lip, palate, or both. One issue is in the act of abortion; since the prenatal ultrasounds can often detect when there is an abnormal lip or palate, some parents will choose to abort the child instead of letting it come into the world and live.

One example of this was in England; a study I found online by the AAPD showed that over a three year period in a certain area in the UK, 37 babies with cleft lips or palates were aborted.

The article, written by Sarah-Kate Templeton, a Health Editor, states that “Abortions are allowed up to birth in Britain in cases of serious handicap, but the law does not define what conditions should be considered grave enough to allow a termination late in the pregnancy. That is left to the discretion of doctors.”

The moral obligations of a parent to care for and love a child diagnosed with this disease are not always prevalent in all areas, including England. The controversy with this is that these children should be able to live fun, normal, healthy lives, and there should be laws that prohibit aborting children with this disease.

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