Posts Tagged ‘cleft lip’

Let’s Discuss Cleft And Craniofacial Disorders

July 20th, 2022

Cleft and craniofacial disorders are a diverse group of deformities affecting the face and skull. These disorders are typically present at birth and can range from mild to severe. They can impact your child’s appearance and impede critical functions such as eating and breathing. In the US, approximately 600,000 children have been diagnosed with a cleft or other craniofacial disorder.

In observance of National Cleft and Craniofacial Awareness and Prevention Month, let’s discuss some of the more common disorders in greater detail.

In this image from the National Institutes of Health media library, a child with a cleft lip at age 2 months (left) and at 5 months after reconstruction surgery at the St. Louis Children’s Hospital Cleft Palate and Craniofacial Institute.

Cleft lip and cleft palate are the most common of the cleft and craniofacial disorders. They occur when a baby’s lip or palate doesn’t form properly during pregnancy. About 1 in every 2,800 babies born in the US has a cleft lip; about 1 in every 1,700 babies is born with a cleft palate, and about 1 in every 1,600 babies is born with a cleft lip and cleft palate.

A cleft lip is a separation of the two sides of the lip. The lips form between the fourth and seventh weeks of pregnancy. A cleft occurs if the tissue forming the lip does not fuse completely during fetal development. The result is an opening in the upper lip, which can range from a small slit to a large gap that goes through the lip into the nose.

The palate, or roof of the mouth, forms between the sixth and ninth weeks of pregnancy. A cleft palate results if the tissue that makes up the palate doesn’t join together completely. In some cases, both the front of the mouth (hard palate) and the back part toward the throat (soft palate) are separated. In other cases, only one part of the palate is open.

Other cleft and craniofacial disorders include:

Hemifacial microsomia, also known as Goldenhar syndrome, is a condition in which the tissue on one side of the face is underdeveloped. This disorder typically affects the ear, mouth and jaw. In some cases, both sides of the face are affected. Hemifacial microsomia is the second most common cleft and craniofacial disorder behind cleft lip and cleft palate. It affects 1 in every 3,500 to 4,000 births.

Craniosynostosis is a disorder in which the natural sutures (soft spots) between a infant’s skull bones that enable the skull to expand as your child grows fuse before growth is complete. The result is a skull that’s abnormally shaped and pressure on a growing brain that can lead to developmental delays and learning problems. A baby’s facial bones may also be altered, creating an asymmetrical appearance.

Deformational, or positional, plagiocephaly is a change in head shape due to external pressure on the skull. It can develop if a baby sleeps in the same position most of the time or if problems with the baby’s neck muscles create a preference to turn the head in the same direction.

A vascular malformation is a birthmark or growth composed of blood vessels that can cause functional or aesthetic problems. There are several types of vascular malformations, which are named according to the blood vessel affected. Many of these malformations are apparent at birth. However, some aren’t found until the child is older, sometimes by the teenage years.

Symptoms of cleft and craniofacial disorders vary depending on the disorder and its severity. In general, these disorders are associated with head deformities and difficulties with speech, breathing, hearing and vision. Often, children with these disorders have dental problems and poor self-esteem.

Most medical professionals believe multiple factors combine to cause cleft and craniofacial disorders. Genetics is one factor. An affected child may have received a particular gene or combination of genes from one or both parents.

Environment is another factor. Women who take certain medications, have diabetes, smoke or drink alcohol in excess while pregnant are at a higher risk for having a baby with a cleft or other craniofacial disorder.

Studies have shown that women who don’t get enough folic acid during pregnancy may also be at a higher risk for having a baby with a cleft or other type of craniofacial disorder. Folic acid is a B vitamin found in leafy green vegetables, orange juice, fortified breakfast cereals and enriched grain products.

A cleft or other craniofacial disorder is usually diagnosed within the first few months of life. Many of the disorders, such as cleft lip and hemifacial microsomia, are obvious when looking at the baby. The child’s doctor may use dental or skull x-rays or a CT or MRI scan to aid in the diagnosis. Sometimes, these deformities can be diagnosed before birth using prenatal ultrasound.

Depending on the type and severity of the cleft or other craniofacial disorder, reconstructive surgery may be recommended to improve the child’s physical appearance. Surgery also helps with eating, breathing and speaking, as well as dental problems.

Children born with these disorders often require specialized health care from infancy to young adulthood.
Some research studies suggest that taking folic acid while pregnant may decrease the chances of having a baby with a cleft or other craniofacial disorder. Folic acid can be found in most multivitamins and as a stand-alone supplement.

Patti DiPanfilo

Close Up On Cleft and Craniofacial Disorders

July 5th, 2021

July is National Cleft and Craniofacial Disorders Awareness and Prevention Month. This observation was established to educate Americans about the cleft and craniofacial conditions that affect more than 600,000 people in the US.

Cleft and craniofacial disorders are a diverse group of abnormalities in the growth and development of the head and face. Most of these disorders develop during pregnancy and are present at birth.

There are multiple variations of cleft and craniofacial disorders, and they can be mild, moderate or severe. They often affect the physical appearance of the child, but can also impact important functions, including eating, hearing and seeing.

The exact cause of these disorders is unknown. Most physicians believe there is no single cause but multiple factors contribute to their development. These factors include a combination of genes; environmental factors, such as viruses and exposure to dangerous chemicals in the workplace; and a deficiency of the B vitamin folic acid during pregnancy.

The most common of the cleft and craniofacial disorders are cleft lip and cleft palate. These conditions are the most common birth defects in the US. It’s estimated that 2,650 babies are born with a cleft palate each year in the US, and 4,440 are born with a cleft lip with or without a cleft palate.

A cleft lip is a separation of the two sides of the lip. It can range in severity from a small split in the lip to a large opening that goes from the lip up through the nose. A cleft palate is an opening in the roof of the mouth. These disorders occur because the two sides did not fuse during development. The lip and palate develop separately, so children can have a cleft lip, cleft palate or both.

Certain risk factors have been identified that may make you more likely to have a baby with a cleft lip or cleft palate. These include family history; exposure to certain substances during pregnancy, such as cigarettes, alcohol or certain medications; having diabetes; and being obese during pregnancy.

Cleft lip and cleft palate, also called orofacial clefts, are generally diagnosed at birth through a visual assessment and physical examination. In many cases, these defects can be diagnosed during pregnancy using ultrasound. Cleft lip and cleft palate are typically treated with surgery to restore the child’s appearance and function.

Affecting one in every 3.500 to 4,000 births, hemifacial microsomia is the second most common cleft and craniofacial disorder after cleft lip and cleft palate. With hemifacial microsomia, one side of the face is underdeveloped and does not grow properly. Most often, this condition affects the jaw, mouth and ear.

Common signs of hemifacial microsomia include facial asymmetry; reduced size of facial muscles; abnormalities of the outer ear; narrowed jaw or absence of half of the jaw; abnormalities in shape or number of the teeth, or significant delay in the development of the teeth; cleft lip and/or cleft palate; and extremely small eyes.

The cause of hemifacial microsomia is unknown. It is believed that vascular problems in the first trimester of pregnancy result in poor blood flow to the baby’s face during development. Treatment often involves surgery to treat your child’s various facial abnormalities. Speech therapy may also be required.

The spaces between a baby’s skull bones, called sutures, are filled with a flexible material that allow the skull to grow as the baby’s brain grows. A craniofacial anomaly called craniosynostosis results when the sutures close and the skull bones fuse too early. If the brain doesn’t have enough room to grow to its full size, pressure builds up in the skull as well.

Craniosynostosis is common. It occurs in one out of 2,200 live births and affects males slightly more often than females.

The first sign of craniosynostosis is an unusually shaped skull. Other signs include no “soft spot” on the baby’s head, a raised firm edge where the sutures closed and the slow growth or no growth of the baby’s head over time.

Your baby’s doctor can generally diagnose craniosynostosis on a physical exam but may order a CT scan to get a closer look at your baby’s brain as well as the sutures to determine whether or not they are fully closed.

The cause of craniosynostosis is unknown, but most researchers believe it is the result of a combination of genetic and environmental factors. Treatment often involves surgery to relieve the pressure on the brain, correct the deformities of the craniosynostosis and allow the brain to grow properly. In some mild cases, surgery may not be needed. Medical therapies can be used to help mold the skull into a more normal shape.

While most cleft and craniofacial disorders cannot be prevented, you can reduce your risk by quitting smoking, not drinking alcohol while you’re pregnant, maintaining a healthy weight during pregnancy and taking prenatal vitamins containing plenty of folic acid.

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