orofacial cleft 9

Orofacial Clefts: A Common Congenital Anomaly

Orofacial clefts (OFCs) are the most common congenital craniofacial anomaly seen in humans. Most OFCs are sporadic and isolated, meaning they occur randomly without a known cause or family history [9].

Characteristics of Orofacial Clefts

• Orofacial clefts can present as cleft lip only, isolated cleft palate, or cleft lip and palate.
• They are caused by an interaction between genetic and environmental factors.
• OFCs are considered one of the commonest birth defects worldwide.

Prevalence and Impact

• Orofacial clefts affect a significant number of individuals worldwide.
• The exact prevalence is not known, but it is estimated to be around 1 in every 700 births.
• Early diagnosis and treatment can significantly improve outcomes for affected individuals.

Common Signs and Symptoms of Orofacial Cleft

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

• Visible gap: A noticeable gap or split in the upper lip or roof of the mouth [1].
• Ear infections and hearing problems: Children with orofacial cleft may experience frequent ear infections and hearing loss [2].
• Trouble breathing: Difficulty breathing due to the abnormal formation of the palate or nasal passages.
• Frequent feeding difficulties: Infants with orofacial cleft may have trouble feeding, as they may not be able to create a proper seal between their lips and mouth [3].
• Hearing loss: Permanent hearing loss can occur if left untreated.
• Eye problems: Some individuals with orofacial cleft may experience eye problems, such as crossed eyes or vision impairment.
• Speech problems: Children with orofacial cleft may have speech difficulties due to the abnormal formation of the palate and lips [4].
• Trouble breathing through the nose: Abnormal nasal passages can cause difficulty breathing through the nose.

It's essential for parents or caregivers to work closely with a care team experienced in treating orofacial cleft to ensure proper diagnosis, treatment, and management of these symptoms.

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 and assess the extent of orofacial clefts:

• Ultrasound: A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy [4]. Two-dimensional ultrasound is often superior to MRI in evaluating small or less severe clefts [2].
• Blood Tests: Blood tests, such as a complete blood count (CBC), may be ordered to rule out other conditions that may be associated with orofacial clefts [5].
• Chromosomal Studies: Chromosomal studies, such as chromosome band 22q11.2 deletion, may be performed if there is a family history of genetic disorders or if the child has other symptoms suggestive of a chromosomal abnormality.
• Cardiac Tests: Cardiac tests, such as an echocardiogram, may be ordered to assess for any cardiac anomalies that may be associated with orofacial clefts [5].
• MRI and 3D/4D Scans: 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 [8].

It's worth noting that the diagnosis of orofacial clefts is often made through a combination of clinical evaluation and diagnostic tests. A thorough examination by an experienced healthcare provider, such as a pediatrician or a specialist in oral and maxillofacial surgery, is essential to accurately diagnose and assess the extent of the condition.

References:

[2] 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, ...

[4] Feb 28, 2024 — A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy. A cleft palate alone may not show up on an ultrasound. A ...

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

[8] by U Kini · 2023 · Cited by 13 — 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 ...

Treatment of Orofacial Clefts: Drug Considerations

The treatment of orofacial clefts (OFC) involves a multidisciplinary approach, including surgery, speech therapy, and dental work. However, certain medications have been associated with an increased risk of OFC.

• Dermatologic Corticosteroids: The use of dermatologic corticosteroids has been linked to an increased risk of cleft lip with or without cleft palate [9]. This suggests that these medications should be used with caution in pregnant women.
• Antiepileptic Drugs (AEDs): While AEDs like lamotrigine have a good teratogenic safety profile, their use during pregnancy should still be carefully considered due to the potential risk of OFC [8].
• Other Medications: Certain medications, such as phenytoin, carbamazepine, oxytetracycline, and thiethylperazine, have been shown to induce OFC in some studies [1, 6].

It's essential for pregnant women or those planning to become pregnant to discuss their medication use with their healthcare provider. This can help minimize the risk of OFC and ensure that any necessary treatments are provided.

References: [1] EH Puhó · 2007 · Cited by 138 [6] EH Puhó · 2007 · Cited by 138 [8] by H Dolk · 2016 · Cited by 79 [9] by A Hviid · 2011 · Cited by 367

Differential Diagnosis of Orofacial Clefts

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]. These conditions often involve multiple congenital anomalies.
• Chromosomal Disorders: Certain chromosomal abnormalities, like trisomy 13 and trisomy 18, can also be linked to orofacial clefts [8].
• Syndromes with Orofacial Clefts: Conditions such as Wolf-Hirschhorn syndrome, which is characterized by a deletion of part of chromosome 4, can present with orofacial clefts among other features.
• Other Associated Features: Differential diagnosis should also consider the presence of associated features like hypertelorism (increased distance between the eyes), cranium bifidum occultum (hidden cranial defect), and median cleft nose, lip, and palate [3].

It's essential to conduct a thorough evaluation, including genetic testing when necessary, to accurately diagnose the underlying condition. This will help guide treatment decisions and provide a more complete understanding of the patient's overall health.

References: [8] - by A Babai · 2023 · Cited by 32 [9] - Feb 28, 2024