orofacial cleft 15

Orofacial Clefts: Types and Prevalence

According to description [15], there are two major types of orofacial clefts (OFCs) in humans:

• Unilateral/Bilateral Cleft Lip with or without Cleft Palate (CL/P): This type of OFC involves a split in the upper lip, which may be accompanied by a cleft in the roof of the mouth (palate).
• Cleft Palate Only (CPO): This type of OFC is characterized by a cleft in the roof of the mouth (palate) without any involvement of the upper lip.

Additionally, orofacial formation involves various cellular actions such as epithelial-mesenchymal interactions, which are regulated by several key morphogenetic signaling pathways, including Bmp/Tgfb, Fgf [15].

Incidence and Prevalence

It is reported that around 7000 infants are born with OFCs annually in the United States [1]. Furthermore, clefts have significant psychological and socioeconomic difficulties on both the patient and the family, reducing the quality of life [2][3].

Citations: [15] - Description of orofacial cleft [1] - Incidence of orofacial clefts in the US [2] - Psychological effects of orofacial clefts [3] - Socioeconomic difficulties associated with orofacial clefts

Orofacial Cleft Signs and Symptoms

Orofacial clefts, which include cleft lip and cleft palate, can have various signs and symptoms depending on the type and severity of the condition. Some common signs and symptoms associated with orofacial clefts are:

• Trouble breathing: Infants with a cleft palate may experience difficulty breathing due to the abnormal formation of the roof of the mouth.
• Frequent ear infections: Orofacial clefts can increase the risk of ear infections, which can lead to hearing problems and other complications.
• Trouble feeding: Babies with a cleft palate may have trouble sucking properly, leading to feeding difficulties.
• Hearing loss: Untreated orofacial clefts can result in hearing loss due to recurrent ear infections.
• Eye problems: Some individuals with orofacial clefts may experience eye problems, such as dry eyes or vision impairment.
• Speech problems: Cleft palate and lip can lead to speech difficulties, including articulation problems and difficulty pronouncing certain sounds.

According to the National Institutes of Health (2022), orofacial clefts are one of the most common congenital disorders in the United States, affecting one in every 1,000 births. The signs and symptoms associated with clefting depend on a variety of factors, including type (i.e., cleft lip, cleft palate, or both) and severity.

References: * [12] National Institutes of Health, 2022 * [15] Overview of orofacial cleft

Diagnostic Tests for Orofacial Cleft

Orofacial clefts, including cleft lip and palate, can be diagnosed using various diagnostic tests. Here are some of the common diagnostic tests used to detect orofacial clefts:

• Prenatal Ultrasound: A prenatal ultrasound can detect orofacial clefts, especially cleft lip, during pregnancy by around week 16 [5][6]. However, a cleft palate alone may not show up on an ultrasound [5].
• Physical Examination at Birth: Most cases of cleft lip and cleft palate are seen right away at birth, so special tests aren't needed. The diagnosis is often done by a thorough physical examination at the time of birth [10][11].
• Ultrasound before Birth: A prenatal ultrasound is a test that uses sound waves to create pictures of the developing unborn baby. It can detect orofacial clefts, especially cleft lip, during pregnancy [5][10].
• MRI: Magnetic Resonance Imaging (MRI) appears to be the most accurate diagnostic test for orofacial clefts. However, it is not feasible during the first trimester of pregnancy [14].

Additional Tests

In some cases, additional tests may be necessary to confirm the diagnosis and rule out other conditions. These may include:

• Blood Tests: Blood tests, such as a Complete Blood Count (CBC), may be ordered to check for any underlying infections or bleeding disorders [7].
• Chromosomal Studies: Chromosomal studies, if indicated, may be performed to identify any genetic abnormalities that may be contributing to the cleft lip and palate [7].
• Genetic Testing: Genetic testing may be considered when there is a strong family history of isolated clefts. This can help identify any genetic mutations that may be contributing to the condition [12].

It's essential to note that the choice of diagnostic test depends on the gestational week in which the malformation is identified and the individual needs of the patient. A multidisciplinary cleft team with specialists from various fields, such as facial plastic surgery, genetics, nursing, speech-language pathology, orthodontics, and dentistry, should be involved in the care and management of orofacial clefts [15].

Treatment of Orofacial Clefts

The treatment of orofacial clefts, also known as cleft lip and palate, typically involves a combination of surgical procedures to repair the physical deformity, as well as other treatments to address functional and cosmetic issues.

• Surgery: Surgical repair is usually necessary to correct the cleft lip and/or palate. This can involve multiple surgeries over time, starting from infancy or early childhood.
• Medications: While there are no specific medications that can "treat" orofacial clefts, certain medications may be used to manage related conditions such as ear infections or sinus problems.

Medications Used in Related Conditions

Some medications may be prescribed to address related issues associated with orofacial clefts:

• Antibiotics: To treat bacterial infections of the ear, nose, and throat.
• Pain relief medications: To manage pain and discomfort during and after surgical procedures.
• Steroids: To reduce inflammation and swelling in the affected area.

Important Considerations

It's essential to note that every child with an orofacial cleft is unique, and their treatment plan will depend on individual factors such as the severity of the condition, overall health, and specific needs. A multidisciplinary team of healthcare professionals, including surgeons, speech therapists, and dentists, will work together to develop a comprehensive treatment plan.

Sources

• [3] Aug 15, 2024 — Although successful treatment of the cosmetic and functional aspects of orofacial cleft anomalies is possible, it is nonetheless challenging, ...
• [5] Treating cleft lip and palate involves surgery and may include speech therapy and dental work. Your child's medical care team is there to support you each step ...
• [7] Children with a cleft lip or palate will need several treatments and assessments as they grow up. A cleft is usually treated with surgery.
• [10] May 16, 2024 — Services and treatment for children with orofacial clefts can vary depending on: ... Surgery to repair a cleft lip usually occurs in the first few ...

Understanding Differential Diagnosis in Orofacial Clefts

The differential diagnosis of orofacial clefts involves identifying and ruling out other possible conditions that may present with similar symptoms. This is a crucial step in accurate diagnosis and treatment planning.

• Associated Conditions: Orofacial clefts can be part of genetic conditions such as Stickler syndrome and 22q11.2 deletion syndrome (or DiGeorge syndrome) [7].
• Differential Diagnosis: The presence of associated symptoms or signs may indicate a need for differential diagnosis, which involves primary followed by secondary surgery (maxilla-facial and plastic) [5].

Key Points to Consider

• Orofacial clefts can be diagnosed during pregnancy through routine ultrasound or after birth.
• Accurate diagnosis is fundamental for treatment, further genetic and etiopathologic studies, and preventive measures.
• Differential diagnosis may involve identifying associated conditions or symptoms that require separate consideration.

References

[7] Feb 28, 2024 — Cleft lip and palate can be part of genetic conditions such as Stickler syndrome and 22q11.2 deletion syndrome (or DiGeorge syndrome). Children with these conditions may have additional symptoms or signs that need to be considered in the differential diagnosis.

[5] Aug 15, 2024 — The correct diagnosis of a cleft anomaly is fundamental for treatment, for further genetic and etiopathologic studies, and for preventive measures.