orofacial cleft 11

Orofacial Clefts: A Congenital Defect

Orofacial clefts refer to a group of congenital defects that affect the formation of the mouth and lip during prenatal development. These defects can occur in isolation or in combination, resulting in varying degrees of severity.

• Types of Orofacial Clefts: There are three main types of orofacial clefts:
  • Cleft Lip: A gap or groove in the upper lip that occurs when the tissue making up the lip doesn't join completely before birth.
  • Cleft Palate: An opening or split in the roof of the mouth that occurs when the tissue doesn't close fully during development in the womb.
  • Cleft Lip and Palate: A combination of both cleft lip and palate.

Causes and Risk Factors: Orofacial clefts are considered one of the commonest birth defects worldwide. They are caused by an interaction between genetic and environmental factors, although the exact mechanisms are not yet fully understood [7]. Some risk factors that may contribute to the development of orofacial clefts include: + Family history: Having a family history of orofacial clefts increases the risk. + Genetic mutations: Certain genetic mutations can increase the risk of developing an orofacial cleft. + Environmental factors: Exposure to certain environmental toxins during pregnancy may also contribute to the development of orofacial clefts.

Prevalence and Impact: Orofacial clefts are relatively common, with a prevalence rate of 1 in every 700 births [9]. The impact of orofacial clefts can be significant, affecting not only the individual but also their family and caregivers. Early diagnosis and treatment are essential to ensure optimal outcomes.

References: [7] 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 U Kini · 2023 · Cited by 13 — Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated - these are thought to be ...

Orofacial Cleft Signs and Symptoms

Orofacial clefts are a type of congenital defect that can affect the upper lip, palate (roof of the mouth), or both. The signs and symptoms associated with orofacial clefts can vary depending on the severity and location of the defect.

Common Signs and Symptoms:

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

Other Possible Signs and Symptoms:

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

It's essential to note that not all individuals with orofacial clefts will experience these symptoms, and some may have additional signs and symptoms not listed here. If you suspect your baby has an orofacial cleft, it's crucial to consult with a healthcare professional for proper evaluation and treatment.

References:

• Mai et al., 2019 - reported that orofacial clefts affect one in every 1,000 births
• National Institutes of Health, 2022 - stated that orofacial clefts result in 3,937 cases every year
• [11] - mentioned that the signs and symptoms associated with clefting depend on a variety of factors, including type (i.e., cleft lip, cleft palate, or both)

Diagnostic Tests for Orofacial Clefts

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

• Ultrasound: A routine ultrasound during pregnancy can often show a cleft lip alone or a cleft lip and palate at about 16 weeks into pregnancy [6]. Two-dimensional ultrasound is also readily available and superior to MRI in evaluating small or less severe clefts [2].
• Blood tests: Blood tests, such as complete blood count (CBC), may be ordered to rule out any underlying conditions that could be contributing to the cleft lip or palate [5].
• Chromosomal studies: If indicated, chromosomal studies may be performed to check for any genetic abnormalities, such as a chromosome band 22q11.2 deletion [7].
• Cardiac tests: Cardiac tests, such as an electrocardiogram (ECG), may be ordered to rule out any heart defects that could be associated with the cleft lip or palate [7].
• 3D/4D ultrasound: 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 [4].

It's worth noting that most cases of cleft lip and cleft palate are seen right away at birth, so special tests aren't needed. However, in some cases, additional testing may be necessary to determine the best course of treatment.

References: [1] Not provided (most cases are seen at birth) [2] Context 2 [3] Not relevant (speech and language assessment) [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8

Treatment of Orofacial Clefts: A Review of Drug Therapies

Orofacial clefts, including cleft lip and palate, are congenital anomalies that can have significant functional and cosmetic implications. While surgical repair is a cornerstone of treatment, certain medications may also play a role in managing these conditions.

Medications Used to Treat Orofacial Clefts

• Corticosteroids: These anti-inflammatory agents have been used to treat various conditions, including asthma, allergic reactions, and eczema [3]. However, their effectiveness in treating orofacial clefts is not well established.
• Phenytoin, Carbamazepine, Oxytetracycline, and Thiethylperazine: These medications have been linked to an increased risk of orofacial clefts in some studies [1][6]. However, their use as a treatment for these conditions is not recommended.

Current Treatment Guidelines

The primary focus of treatment for orofacial clefts remains surgical repair. Speech therapy and dental work may also be necessary to address functional and cosmetic concerns [5].

Conclusion

While certain medications have been associated with an increased risk of orofacial clefts, their use as a treatment for these conditions is not well established. Surgical repair, along with speech therapy and dental work, remains the primary focus of treatment.

References:

[1] EH Puhó · 2007 · Cited by 138

[3] by H Skuladottir · 2014 · Cited by 175

[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 ...

[6] by EH Puhó · 2007 · Cited by 138

Differential Diagnosis of Orofacial Clefts

Orofacial clefts, also known as cleft lip and palate, can be diagnosed during pregnancy through a routine ultrasound or after birth. The differential diagnosis of orofacial clefts involves identifying the presence of associated anomalies that may affect treatment and prognosis.

Associated Anomalies

• Cranium bifidum occultum: A rare congenital anomaly characterized by a hidden cleft in the skull.
• Hypertelorism: A condition where the eyes are abnormally far apart, often associated with orofacial clefts.
• Median cleft nose, lip, and palate: A rare congenital anomaly involving a cleft in the middle of the face.

Treatment Considerations

The presence of associated anomalies can significantly impact treatment planning for orofacial clefts. Treatment may involve primary surgery followed by secondary procedures to address any additional anomalies.

• Maxillofacial surgery: May be necessary to correct facial deformities and ensure proper alignment of the jaw.
• Plastic surgery: Can be performed to repair any associated skin or soft tissue defects.

Prognosis

While treatment can significantly improve the appearance and function of the affected area, some individuals may experience persistent scarring or other complications. However, with advances in surgical techniques and early intervention, many people with orofacial clefts can lead normal, healthy lives.

References:

• [1] by A Babai · 2023 · Cited by 32
• [2] May 16, 2024
• [5] May 1, 2014