orofacial cleft 4

Orofacial Clefts: A Congenital Defect

A cleft lip and palate, also known as an orofacial cleft, is a congenital defect that occurs when the tissues making up the upper lip and/or the roof of the mouth (palate) do not join completely before birth. This can result in a gap or groove in the upper lip and/or a hole in the roof of the mouth.

Types of Orofacial Clefts

There are several types of orofacial clefts, including:

• Cleft Lip: A gap or groove in the upper lip.
• Cleft Palate: A hole in the roof of the mouth (palate).
• Cleft Lip and Palate: Both a gap in the upper lip and a hole in the roof of the mouth.

Causes and Prevalence

Orofacial clefts are considered one of the most common birth defects worldwide, with an estimated 1 in every 700 births affected. The exact cause is unknown, but it is believed to be due to an interaction between genetic and environmental factors [7].

References:

• Description for orofacial cleft #4
• Cited by 32 [5]
• Most common congenital craniofacial anomaly seen in humans [9]

Common Signs and Symptoms of Orofacial Cleft

Children born with orofacial cleft may experience a range of signs and symptoms, which can vary in severity and impact on daily life. Some common signs and symptoms include:

• Feeding difficulties: Infants with cleft palate may have trouble sucking properly due to the incomplete formation of the roof of the mouth [2].
• Trouble breathing: Children with orofacial cleft may experience respiratory issues, particularly if their cleft is severe or affects other structures in the face and mouth [7].
• Frequent ear infections: Orofacial cleft can increase the risk of ear infections, which can lead to hearing loss if left untreated [6].
• Hearing loss: Children with orofacial cleft are more likely to experience hearing problems due to the increased risk of ear infections and other related issues [6].
• Speech and language delays: As children grow older, they may struggle with speech and language development, which can impact their communication skills and overall quality of life [6].

It's essential for parents or caregivers to work closely with a care team experienced in managing orofacial cleft to address these signs and symptoms effectively. Early intervention and proper treatment can significantly improve outcomes and reduce the risk of long-term complications.

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 through various diagnostic tests. Here are some of the common tests used to diagnose these conditions:

• Ultrasound: A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy [6]. Two-dimensional ultrasound is often superior to MRI in evaluating small or less severe clefts [3].
• Blood Tests: Blood tests, such as a complete blood count (CBC), may be ordered to rule out other conditions that may cause similar symptoms.
• X-rays: X-rays may be taken to evaluate the extent of the cleft and to check for any associated bone or dental abnormalities.
• Specialized Tests: Depending on the severity of the cleft, additional specialized tests such as chromosomal studies (e.g., chromosome band 22q11.2 deletion) or cardiac evaluations may be ordered.

It's essential to note that a specific diagnosis is made after a thorough evaluation by a healthcare professional, which may include a combination of these diagnostic tests [4].

Medications Associated with Orofacial Clefts

Research has identified several medications that may be linked to an increased risk of orofacial clefts in offspring. According to a study published by H Skuladottir in 2014 [4], maternal use of corticosteroids during early pregnancy has been inconsistently associated with orofacial clefts.

Some other medications that have been suggested to be potential risk factors for orofacial clefts include:

• Anti-seizure/anticonvulsant drugs, such as phenytoin and carbamazepine [1]
• Acne drugs containing Accutane
• Methotrexate

It's essential to note that the relationship between these medications and orofacial clefts is still being researched, and more studies are needed to confirm these associations.

References:

[1] EH Puhó · 2007 - This study confirmed the orofacial cleft (OFC) inducing effect of phenytoin, carbamazepine, oxytetracycline, and thiethylperazine. [4] by H Skuladottir · 2014 - Maternal use of corticosteroids during early pregnancy has been inconsistently associated with orofacial clefts in the offspring.

Differential Diagnosis of Orofacial Cleft

Orofacial clefts, such as cleft lip and palate, can be part of a broader differential diagnosis that involves primary followed by secondary surgery. The correct diagnosis is fundamental for treatment, further genetic and etiopathologic studies, and preventive measures.

• Primary Surgery: Initial surgical intervention focuses on closing the cleft defect, restoring oral function, and improving facial aesthetics.
• Secondary Surgery: Additional surgeries may be required to address associated anomalies, such as:
  • Alveolar bone grafting to facilitate dental development
  • Palatal lengthening or soft tissue revisions
  • Orthodontic treatment to align teeth and improve occlusion
  • Maxillofacial surgery to correct facial asymmetry or other skeletal issues

The presence of associated anomalies can significantly impact the differential diagnosis and treatment plan. A thorough evaluation by a multidisciplinary team, including oral surgeons, maxillofacial surgeons, orthodontists, and geneticists, is essential to determine the most appropriate course of action.

References:

• [4] Aug 15, 2024 - The correct diagnosis of a cleft anomaly is fundamental for treatment, for further genetic and etiopathologic studies, and for preventive measures.