orofacial cleft 3

Orofacial Cleft Description

A gap or groove in the upper lip, also known as a cleft lip, can occur when the tissue making up the upper lip doesn't join completely before birth, leaving an opening. This congenital defect results from nonfusion of tissues of the lip during embryonal development.

• Types: Orofacial clefts can present as:
  • Cleft lip only
  • Isolated cleft palate (a hole in the roof of the mouth)
  • Cleft lip and palate (both a gap in the upper lip and a hole in the roof of the mouth) [5]
• Causes: Orofacial clefts are considered one of the commonest birth defects worldwide, caused by an interaction between genetic and environmental factors [7]

References: [3] - Description of orofacial cleft [5] - Types of orofacial clefts [7] - Causes of orofacial clefts

Common Signs and Symptoms of Orofacial Cleft

Children born with an orofacial cleft, such as a cleft lip or palate, may experience various signs and symptoms that can affect their overall health and development. Some common signs and symptoms include:

• Trouble breathing: Infants with a cleft lip or palate may have difficulty breathing due to the gap in the upper lip or roof of the mouth [3].
• Frequent ear infections: Children with an orofacial cleft are more likely to experience ear infections, which can lead to hearing problems and other complications [6].
• Trouble feeding: Infants with a cleft palate may have difficulty feeding due to the gap in the roof of the mouth, making it hard for them to suckle properly [3].
• Hearing loss: Children with an orofacial cleft are at risk of experiencing hearing loss, which can impact their speech and language development [6].
• Eye problems: Some children with a cleft lip or palate may experience eye problems, such as dry eyes or vision impairment [7].
• Speech problems: Orofacial clefts can affect the formation of words and sounds, leading to speech difficulties in some children [6].

It's essential for parents and caregivers to work closely with a care team experienced in managing orofacial clefts to ensure that these signs and symptoms are addressed promptly and effectively.

Diagnostic Tests for Orofacial Cleft

Orofacial clefts can be diagnosed using various diagnostic tests, including:

• Ultrasound: A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy [5]. Two-dimensional ultrasound is often superior to MRI in evaluating small or less severe clefts [3].
• MRI (Magnetic Resonance Imaging): MRI appears to be the most accurate diagnostic test for orofacial clefts, but it's not feasible during the first trimester of pregnancy [12].
• Blood tests: Blood tests may be conducted to rule out any underlying genetic conditions that could be contributing to the orofacial cleft. This includes complete blood count (CBC) and chromosomal studies, if indicated [6].
• X-rays: X-rays may also be used to evaluate the extent of the cleft and to plan for any necessary surgical interventions.
• Genetic testing: Genetic testing may be considered when there is a strong family history of isolated clefts or when other genetic conditions are suspected.

It's essential to note that the choice of diagnostic test depends on the gestational week in which the malformation is identified, and the accuracy of orofacial cleft detection also depends on this factor [11].

References:

[3] Jun 14, 2020 - Two-dimensional ultrasound readily depicts most cases of cleft lip and is often superior to MRI in evaluating small or less severe clefts.

[5] Feb 28, 2024 - A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy.

[6] Jan 9, 2024 - Preoperative tests · Blood tests - Complete blood count (CBC) · Chromosomal studies, if indicated (eg, chromosome band 22q11.2 deletion)

[12] Therefore, the accuracy of orofacial cleft detection depends on the gestational week in which the malformation is identified. The choice of diagnostic test is critical in this regard, and although MRI appears to be the most accurate diagnostic test, it is essential to keep in mind that MRI is not feasible during the first trimester of pregnancy.

Topiramate and Oral Cleft

According to the American Dental Association (ADA), pregnant women who take the drug Topiramate increase the risks of oral clefts in their babies [3]. This is a concern for expectant mothers who are prescribed this medication for epilepsy or migraines.

• Increased risk: Studies have shown that taking Topiramate during pregnancy can lead to an increased risk of oral clefts, including cleft lip and palate [3].
• Alternative treatments: Women who are pregnant or planning to become pregnant should discuss alternative treatment options with their healthcare provider to minimize the risk of oral clefts in their babies.

It's essential for pregnant women to be aware of this potential risk and consult with their healthcare provider about the safest course of action.

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 associated with various genetic syndromes, such as Stickler syndrome and 22q11.2 deletion syndrome (or DiGeorge syndrome) [7].
• Primary and Secondary Surgery: The treatment of orofacial clefts often involves primary surgery followed by secondary surgery to address any remaining issues [5].

Key Considerations

When considering the differential diagnosis of orofacial clefts, it's essential to take into account the following factors:

• Location and Type of Cleft: The location and type of cleft (unilateral, bilateral, complete, incomplete) can provide clues about potential underlying conditions [6].
• Associated Symptoms: Any additional symptoms or signs, such as developmental delays or other congenital anomalies, may indicate an associated genetic condition.
• Family History: A family history of similar conditions or genetic syndromes can be a crucial factor in the differential diagnosis.

References

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