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Orofacial Clefts: A Common Birth Defect

A cleft palate, as described in [3], is an opening or split in the roof of the mouth that occurs when the tissue doesn't close fully during development in the womb. This can happen alone or in combination with a cleft lip.

Types of Orofacial Clefts

There are three main types of orofacial clefts:

• Cleft Lip: A cleft lip happens if the tissue making up the upper lip doesn't join completely before birth, leaving an opening. This can occur alone or in combination with a cleft palate.
• Cleft Palate: A cleft palate is when a baby is born with a cleft in the roof of the mouth. This leaves a hole between the nose and the mouth.
• Cleft Lip and Palate: Some babies are born with both a cleft lip and a cleft palate.

Prevalence

Orofacial clefts, including cleft lip and/or cleft palate, are considered one of the commonest birth defects worldwide [4]. They affect approximately 1 in every 1000 live births [9].

Causes

Most orofacial clefts are caused by an interaction between genetic and environmental factors [6]. While there is no single cause for these birth defects, research suggests that a combination of genetic predisposition and environmental influences can contribute to their development.

References:

[3] A cleft palate is an opening or split in the roof of the mouth that occurs when the tissue doesn't close fully during development in the womb ... [4] by A Babai · 2023 · Cited by 32 — Orofacial clefting is considered one of the commonest birth defects worldwide. It presents as cleft lip only, isolated cleft palate or cleft lip and palate. [6] Aug 15, 2024 — Most orofacial clefts, like most common congenital anomalies, are caused by an interaction between genetic and environmental factors (see the ... [9] by BC Schutte · 1999 · Cited by 517 — Orofacial clefts are congenital structural anomalies of the lip and/or palate that affect ∼1/1000 live births. Their frequent occurrence as well as their ...

Common Signs and Symptoms of Orofacial Cleft

Orofacial cleft, which includes conditions such as cleft lip and cleft palate, can manifest in various ways. Here are some common signs and symptoms:

• Facial Abnormalities: A visible gap or split in the upper lip, roof of the mouth (palate), or both [1].
• Ear Infections and Hearing Problems: Children with orofacial cleft may experience frequent ear infections, hearing loss, or other auditory issues [2].
• Speech and Language Delays: As they grow older, individuals with orofacial cleft may struggle with speech and language development [3].
• Breathing and Feeding Issues: Trouble breathing, feeding difficulties, or a need for specialized feeding equipment are also common symptoms [4].
• Eye Problems: Some individuals with orofacial cleft may experience eye-related issues, such as crossed eyes or vision problems [5].
• Speech Problems: Difficulty articulating words, speaking clearly, or experiencing speech impediments can be signs of orofacial cleft [6].

It's essential to note that every individual with orofacial cleft is unique, and not everyone will exhibit all of these symptoms. If you suspect someone has an orofacial cleft, it's crucial to consult a healthcare professional for proper evaluation and care.

References: [1] Context result 4 [2] Context result 6 [3] Context result 6 [4] Context result 7 [5] Context result 8 [6] Context result 9

Diagnostic Tests for Orofacial Clefts

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 cleft lip and palate by around week 16 of pregnancy [5]. This test uses sound waves to create pictures of the developing unborn baby.
• Two-Dimensional Ultrasound: Two-dimensional ultrasound is readily available and can depict most cases of cleft lip, 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 [14].
• Blood Tests: Blood tests may be conducted to rule out other conditions that may cause similar symptoms. For example, chromosomal studies may be performed if indicated (e.g., chromosome band 22q11.2 deletion) [8].
• Chromosomal Microarray Analysis (CMA): CMA should be offered when an orofacial cleft is detected to rule out any underlying genetic conditions [15].

Physical Examination: A thorough physical examination at the time of birth can also diagnose orofacial clefts, especially bilateral cleft lip and palate [11].

Medications Associated with Orofacial Clefts

Research has identified several medications that may be linked to an increased risk of orofacial clefts in infants. These include:

• Anti-seizure/anticonvulsant drugs, such as phenytoin and carbamazepine [7][9]
• Acne drugs containing Accutane [7]
• Methotrexate, a medication used to treat cancer and autoimmune diseases [7]

It's essential for pregnant women to inform their healthcare provider about any medications they are taking. This allows the doctor to assess the potential risks and benefits of continuing or discontinuing these medications during pregnancy.

Precautions and Considerations

While some medications may be associated with an increased risk of orofacial clefts, it's crucial to note that:

• The absolute risk is still relatively low [4]
• Many women take these medications without experiencing any issues
• Stopping medication abruptly can also have negative consequences for the mother and fetus

If you're taking any medications during pregnancy and have concerns about their potential impact on your baby, consult with your healthcare provider. They will help you weigh the risks and benefits and make an informed decision.

References:

[7] Feb 28, 2024 — Some drugs that may cause cleft lip and cleft palate include anti-seizure/anticonvulsant drugs, acne drugs containing Accutane, and methotrexate ... [9] by EH Puhó · 2007 · Cited by 138 — Conclusions: This study confirmed the orofacial cleft (OFC) inducing effect of phenytoin, carbamazepine, oxytetracycline, and thiethylperazine and suggested a ...

The differential diagnosis for orofacial clefts involves considering various conditions that may present similarly to a cleft lip and/or palate. According to the search results, the presence of associated symptoms is crucial in making an accurate diagnosis [3].

Some conditions that should be ruled out in the differential diagnosis include:

• Primary followed by secondary surgery (maxilla-facial and plastic) for treatment of an alveolar cleft [4].
• Genetic conditions such as Stickler syndrome and 22q11.2 deletion syndrome (or DiGeorge syndrome), which can also present with cleft lip and palate [7].

It's essential to note that a correct diagnosis is fundamental for further genetic and etiopathologic studies, as well as for preventive measures and treatment planning [3].