orofacial cleft 14

Orofacial Clefts: A Congenital Anomaly

Orofacial clefts, also known as cleft lip and palate, are congenital anomalies that occur when the tissues making up the upper lip and/or roof of the mouth (palate) do not join properly during embryonic development. This can result in a gap or groove in the upper lip and/or a hole between the nose and mouth.

Types of Orofacial Clefts

There are three main types of orofacial clefts:

• Cleft Lip: A gap or groove in the upper lip, which can occur alone or with a cleft palate.
• Cleft Palate: A hole between the roof of the mouth and the nose, which can occur alone or with a cleft lip.
• Cleft Lip and Palate: A combination of both conditions.

Causes of Orofacial Clefts

While the exact cause of orofacial clefts is not fully understood, research suggests that it is an interaction between genetic and environmental factors. Most cases are sporadic and isolated, but some may be associated with genetic syndromes or other congenital anomalies [7][9].

Prevalence of Orofacial Clefts

Orofacial clefts are considered one of the most common birth defects worldwide, affecting approximately 1 in every 700 births [5]. They can occur in any ethnic group and are more common in males than females.

References:

[1] - 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. [2] - May 16, 2024 — A cleft lip happens if the tissue making up the upper lip doesn't join completely before birth, leaving an opening. [3] - A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. [5] - by A Babai · 2023 · Cited by 32 — Orofacial clefting is considered one of the commonest birth defects worldwide. [8] - Cleft lip and palate are birth defects in which the mouth and lip do not close properly during prenatal development, also known as oral-facial clefts.

Common Signs and Symptoms of Orofacial Cleft

Orofacial cleft, which includes cleft lip and cleft palate, can manifest in various ways, affecting an individual's quality of life. Here are some common signs and symptoms:

• Feeding difficulties: Infants with cleft palate may experience trouble feeding due to the inability to suck properly [2].
• Trouble breathing: Children with orofacial cleft may have difficulty breathing, especially if the cleft is severe [6].
• Frequent ear infections: Orofacial cleft can increase the risk of ear infections and hearing loss [6].
• Speech problems: As children grow older, they may experience speech delays or difficulties due to the cleft lip or palate [6].
• Eye problems: Some individuals with orofacial cleft may be more prone to eye problems, such as dry eyes or vision impairment [7].

It's essential for parents and caregivers to work closely with a care team experienced in managing craniofacial conditions like orofacial cleft. Early intervention can significantly impact the individual's overall health and well-being.

References: [2] - Context 2 [6] - Context 6 [7] - Context 7

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 tests used to diagnose these conditions:

• Ultrasound: An ultrasound test can often show a cleft lip alone or a cleft lip and palate at about 16 weeks into pregnancy [8]. A routine ultrasound during pregnancy can also diagnose orofacial clefts, especially cleft lip [6].
• Blood tests: Blood tests may be conducted to rule out any underlying conditions that could be contributing to the cleft. This may include a complete blood count (CBC) and chromosomal studies if indicated [7].
• X-rays: X-rays may be taken to evaluate the extent of the cleft and to check for any other potential issues.
• Special tests: Additional special tests, such as MRI or 3D/4D scans, may be offered to know the extent of the cleft. However, these tests rarely alter the management of the condition [4].
• Referrals to specialists: If a specific diagnosis is made, the family may be referred to other specialists for further evaluation and counseling.

It's worth noting that most cases of cleft lip and palate are seen right away at birth, so special tests aren't always needed. However, in some cases, additional testing may be necessary to confirm the diagnosis or to rule out any underlying conditions.

References: [1] Most cases of cleft lip and cleft palate are seen right away at birth, so special tests aren't needed. [2] Two-dimensional ultrasound readily depicts most cases of cleft lip and is often superior to MRI in evaluating small or less severe clefts, [4] Foetal magnetic resonance imaging scans and 3D/4D scans may be offered to know the extent of the cleft, but rarely alter the management of the condition [6] Orofacial clefts, especially cleft lip, can be diagnosed during pregnancy by a routine ultrasound. [7] Preoperative tests · Blood tests - Complete blood count (CBC) · Chromosomal studies, if indicated (eg, chromosome band 22q11.2 deletion) · Cardiac [8] An ultrasound can often show a cleft lip alone or a cleft lip and palate at about 16 weeks into pregnancy. [9] Studies have shown that the use of 3D ultrasound significantly improves the sensitivity of diagnosing orofacial clefts that affect both the primary and secondary palate.

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 related issues such as speech and dental problems.

• Surgery: The primary goal of surgery is to restore normal facial structure and function. This may involve multiple procedures over time, starting from infancy or early childhood.
• Speech Therapy: Children with cleft lip and palate often experience difficulties with speech articulation due to the physical deformity. Speech therapy can help improve communication skills and address any related issues.
• Dental Work: Orofacial clefts can also affect dental development, leading to problems such as tooth misalignment or missing teeth. Dental work may be necessary to correct these issues.

Medications

While there are no specific medications that directly treat orofacial clefts, certain medications have been linked to an increased risk of developing this condition [1][2]. These include:

• Phenytoin
• Carbamazepine
• Oxytetracycline
• Thiethylperazine

It's essential to note that these medications are not typically used as a treatment for orofacial clefts, but rather as part of the overall management plan to address related issues.

References

[1] EH Puhó · 2007 · Cited by 138 — This study confirmed the orofacial cleft (OFC) inducing effect of phenytoin, carbamazepine, oxytetracycline, and thiethylperazine and suggested a possible ... [Search Result 1]

[2] EH Puhó · 2007 · Cited by 138 — This study confirmed the orofacial cleft (OFC) inducing effect of phenytoin, carbamazepine, oxytetracycline, and thiethylperazine and suggested a possible ... [Search Result 6]

[3] 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... [Search Result 5]

Note: The numbers in square brackets refer to the search results used to generate this answer.

Differential Diagnosis of Orofacial Cleft

Orofacial clefts, including cleft lip and palate, can be diagnosed during pregnancy through routine ultrasound or after birth through a physical exam. However, differential diagnosis is crucial to determine the underlying cause of the condition.

• Prenatal exposure: Prenatal exposure to alcohol, antiepileptic drugs (phenytoin and others), isotretinoin, cigarette smoking, and maternal diabetes can increase the risk of orofacial clefts [6].
• Chromosomal disorders: Other chromosomal disorders underlying different syndromes characterized by orofacial clefts include trisomy 13, trisomy 18, and Wolf-Hirschhorn syndrome [9].
• Genetic predisposition: Orofacial clefting can also be caused by genetic factors, with some families having a higher incidence of the condition.
• Environmental factors: Environmental factors such as maternal nutrition and exposure to certain chemicals during pregnancy may also contribute to the development of orofacial clefts.

Important Considerations

Accurate differential diagnosis is essential for treatment planning, further genetic and etiopathologic studies, and preventive measures. A thorough medical history, physical examination, and diagnostic tests can help identify the underlying cause of the condition.

References: [6] May 1, 2014 — Differential Diagnosis​​ Prenatal exposure to alcohol, antiepileptic drugs (phenytoin and others), isotretinoin, cigarette smoking, maternal ... [9] by A Babai · 2023 · Cited by 32 — Other chromosomal disorders underlying different syndromes characterized by orofacial clefts include trisomy 13, trisomy 18 and Wolf–Hirschhorn ...