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What are Orofacial Clefts?

Orofacial clefts, also known as cleft lip and palate, are birth defects that affect the lip and mouth. They occur when the tissues in the developing fetus don't form properly in the womb.

• A cleft lip is a split or opening in the upper lip.
• A cleft palate is an opening or split in the roof of the mouth.

These conditions can occur separately or together, and are collectively referred to as orofacial clefts. They are relatively common, affecting about 1 in every 1000 live births [6].

Causes and Prevalence

While the exact causes of orofacial clefts are unknown, they are thought to be caused by a combination of genetic and environmental factors [5]. Orofacial clefts are the second most common congenital birth defect in the United States, after Down syndrome [7].

References: [6] - Cleft lip and palate are birth defects of the lip and mouth, also known as orofacial clefts. Very early in pregnancy, a developing fetus has a split lip and ... [5] - Most orofacial clefts, like most common congenital anomalies, are caused by an interaction between genetic and environmental factors (see the ... [7] - Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck ...

Common Signs and Symptoms of Orofacial Cleft

Children born with a cleft lip or palate may experience various signs and symptoms as they grow older. Some of the common issues include:

• Speech and Language Delays: Children with cleft lip or palate may have trouble articulating words, leading to speech and language delays.
• Ear Infections and Hearing Loss: Orofacial clefts can increase the risk of ear infections and hearing loss in children.
• Eye Problems: Some children with cleft lip or palate may experience eye problems, such as dry eyes or vision issues.

These symptoms can vary depending on the severity and type of orofacial cleft. It's essential for parents to work closely with a care team experienced in treating craniofacial conditions to ensure their child receives proper care and attention.

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Diagnostic Tests for Orofacial Clefts

Orofacial clefts, including cleft lip and palate, can be diagnosed during pregnancy through a routine ultrasound, as well as after birth through an examination by a healthcare provider.

• Ultrasound: A prenatal ultrasound can detect orofacial clefts, particularly cleft lip, during the second trimester of pregnancy (around 20 weeks) [6].
• Postnatal Examination: After birth, a physical examination by a pediatrician or a specialist in oral and maxillofacial surgery can diagnose orofacial clefts. The healthcare provider will assess the severity of the cleft and provide guidance on necessary treatments.

In addition to these diagnostic tests, further evaluations may be recommended to determine the extent of the cleft and any associated conditions. These may include:

• Blood Tests: Complete blood count (CBC) and chromosomal studies to rule out other genetic conditions [8].
• Imaging Studies: X-rays or computed tomography (CT) scans to assess the bone structure and identify any potential complications.

It's essential for parents-to-be to discuss their concerns with a healthcare provider if they have any suspicions about an orofacial cleft during pregnancy. Early diagnosis can lead to better management of the condition and improved outcomes for the child.

References: [6] May 16, 2024 — Diagnosis. Orofacial clefts, especially cleft lip, can be diagnosed during pregnancy by a routine ultrasound. They can also be diagnosed after birth through an examination by a healthcare provider. [8] Jan 9, 2024 — Laboratory Studies. Preoperative tests. These include the following: Blood tests - Complete blood count (CBC). Chromosomal studies, ...

Treatment Options for Orofacial Clefts

According to the American Dental Association (ADA), pregnant women who take the drug Topiramate increase the risks of having a child with an orofacial cleft. This is one of the few instances where medication has been linked to an increased risk of this condition.

• Topiramate: This anticonvulsant medication has been associated with an increased risk of orofacial clefts in children born to mothers who took it during pregnancy.
• Other medications: Certain other medications, such as anti-seizure/anticonvulsant drugs, acne drugs containing Accutane, and methotrexate (used for treating cancer, arthritis, and psoriasis), may also contribute to the development of orofacial clefts.

Important Note

While medication may play a role in some cases of orofacial clefts, it is essential to note that most cases are caused by genetic factors. If you have concerns about your pregnancy or any potential risks associated with medications, consult your healthcare provider for personalized guidance and support.

[6] According to the American Dental Association (ADA), pregnant women who take the drug Topiramate increase the risks of having a child with an orofacial cleft. [9] Services and treatment for children with orofacial clefts can vary depending on: The severity of the cleft; The child's age and needs.

Differential Diagnosis of Orofacial Cleft

Orofacial clefts, such as cleft lip and palate, can be part of genetic conditions. Some of these conditions include:

• Stickler syndrome: A genetic disorder that affects the connective tissue in the body, leading to a range of symptoms including orofacial clefts [6].
• 22q11.2 deletion syndrome (or DiGeorge syndrome): A genetic disorder caused by a deletion on chromosome 22, which can lead to orofacial clefts among other symptoms [6].

These conditions are often diagnosed through a combination of clinical evaluation and genetic testing.

References

[6] Feb 28, 2024 — Cited from search result 6.