orofacial cleft 8

Orofacial Clefts: A Congenital Defect

A cleft lip and palate, also known as an orofacial cleft, is a congenital defect that occurs when the mouth and lip do not close properly during prenatal development. This condition affects the formation of the upper lip and/or the roof of the mouth, resulting in a gap or groove in the affected area.

Types of Orofacial Clefts

There are several types of orofacial clefts, including:

• Cleft Lip: A gap or groove in the upper lip.
• Cleft Palate: An opening or split in the roof of the mouth.
• Cleft Lip and Palate: A combination of both conditions.

Causes and Risk Factors

Most orofacial clefts are caused by an interaction between genetic and environmental factors. Some risk factors that may contribute to the development of this condition include:

• Family history
• Genetic mutations
• Environmental toxins
• Poor nutrition during pregnancy

Prevalence and Treatment

Orofacial clefts are one of the most common congenital defects worldwide, affecting approximately 1 in every 700 births. Treatment for orofacial clefts typically involves surgery to close the gap or groove, followed by speech therapy and other supportive care.

[Citations: 8]

Orofacial Cleft Signs and Symptoms

Orofacial clefts, also known as cleft lip and palate, are congenital structural anomalies caused by atypical development of an embryo. The signs and symptoms associated with orofacial clefts can vary depending on the type and severity of the condition.

Common Signs and Symptoms:

• Trouble breathing
• Frequent ear infections
• Trouble feeding
• Hearing loss
• Eye problems
• Speech problems

These differences occur when the tissues and bone of the face and mouth do not fuse properly, resulting in a space in the upper lip and/or palate. The cleft can range from a small indentation to a large gap that reaches the nose.

Other Possible Signs and Symptoms:

• Crooked, poorly shaped or missing teeth
• Misalignment of teeth and jaw
• Deformities of the upper jaw (maxilla)
• Unrepaired oronasal fistulae (a hole between the mouth and nose cavity)
• Alveolar clefts (defects in the bone that supports the teeth)

It's essential to work with a care team experienced in treating orofacial clefts to ensure proper diagnosis, treatment, and management of these conditions.

References:

[8] Cleft lip and palate are 2 types of craniofacial conditions that are congenital structural anomalies caused by atypical development of an embryo. [5] These differences occur when the tissues and bone of the face and mouth do not fuse properly, resulting in a space in the upper lip and/or palate. [14] Symptoms of cleft lip and palate may include: Crooked, poorly shaped or missing teeth; Misalignment of teeth and jaw; Deformities of the upper jaw (maxilla) Speech problems; Unrepaired oronasal fistulae, which is a hole between the mouth and nose cavity; Alveolar clefts, which are defects in the bone that supports the teeth

Diagnostic Tests for Orofacial Clefts

Orofacial clefts, including cleft lip and palate, can be diagnosed through various tests and examinations. Here are some common diagnostic tests used to diagnose orofacial clefts:

• Blood tests: Complete blood count (CBC) may be performed to rule out any underlying infections or conditions that could be contributing to the orofacial cleft.
• Chromosomal studies: If indicated, chromosomal studies such as chromosome band 22q11.2 deletion may be conducted to identify any genetic abnormalities associated with the condition.
• Cardiac evaluation: A cardiac evaluation may be performed to assess for any potential heart defects that could be related to the orofacial cleft.

According to [8], preoperative tests are essential in evaluating patients with orofacial clefts before undergoing surgical procedures. These tests help identify any underlying conditions that could impact the patient's overall health and treatment outcomes.

Additionally, ultrasonography is considered the gold standard for prenatal diagnosis of facial malformations, including orofacial clefts [8]. This non-invasive test uses sound waves to create images of the developing fetus, allowing healthcare providers to detect any potential abnormalities early in pregnancy.

It's essential to note that each patient's situation is unique, and the specific diagnostic tests used may vary depending on individual circumstances. A comprehensive evaluation by a qualified healthcare provider is necessary to determine the best course of action for diagnosis and treatment.

Drugs Associated with Orofacial Clefts

Some drugs have been linked to an increased risk of orofacial clefts in babies, including:

• Anti-seizure/anticonvulsant drugs [8]
• Acne drugs containing Accutane [8]
• Methotrexate [8]

It's essential for pregnant women to inform their healthcare provider about any medications they are taking and to follow their guidance on safe use during pregnancy.

References:

[8] Feb 28, 2024 — Some drugs that may cause cleft lip and cleft palate include anti-seizure/anticonvulsant drugs, acne drugs containing Accutane, and methotrexate ...

Differential Diagnosis of Orofacial Cleft 8

Orofacial clefts, including cleft lip and palate, can be part of various syndromes and conditions that require a comprehensive differential diagnosis. Here are some key points to consider:

• Genetic Conditions: Orofacial clefts can be associated with genetic disorders such as Stickler syndrome [9] and 22q11.2 deletion syndrome (or DiGeorge syndrome) [9].
• Chromosomal Disorders: Other chromosomal disorders underlying different syndromes characterized by orofacial clefts include trisomy 13, trisomy 18, and Wolf-Hirschhorn syndrome [8].
• Median Cleft Face Syndrome: This is a rare condition that involves a cleft lip and palate, along with other facial abnormalities. It can be diagnosed through differential diagnosis with cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate [3].

Key Considerations for Differential Diagnosis

• Associated Features: The presence of associated features such as craniofacial anomalies, cardiac defects, or other systemic abnormalities can help narrow down the differential diagnosis.
• Genetic Evaluation: A thorough genetic evaluation is essential to identify underlying syndromes or conditions that may be contributing to the orofacial cleft.

References

[8] 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 syndrome. [9] 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).