orofacial cleft 5

What are Orofacial Clefts?

Orofacial clefts, also known as cleft lip and palate, are birth defects that occur when the upper lip and/or roof of the mouth do not form properly during fetal development. This can result in a split or opening in the upper lip and/or the roof of the mouth.

Types of Orofacial Clefts

There are several types of orofacial clefts, including:

• Cleft Lip: A split or opening in the upper lip
• Cleft Palate: A split or opening in the roof of the mouth
• Cleft Lip and Palate: A combination of both a split upper lip and a split roof of the mouth

Causes and Risk Factors

The exact causes of orofacial clefts are unknown, but research suggests that they may be caused by a combination of genetic and environmental factors. Some risk factors for having a baby with an orofacial cleft include:

• Smoking during pregnancy
• Having diabetes before pregnancy (type 1 or 2)

Prevalence and Impact

Orofacial clefts are the second most common congenital birth defect in the United States, after Down syndrome. They can have significant lifelong morbidity and complex etiology.

Sources: [5] Cleft lip and palate is a major congenital structural anomaly that is notable for significant lifelong morbidity and complex etiology. [8] Orofacial clefts (OFCs) rank as the second most common congenital birth defect in the United States after Down syndrome and are the most common head and neck congenital malformations.

Common Signs and Symptoms of Orofacial Cleft

Children born with an orofacial cleft, which includes cleft lip and/or palate, may experience a range of symptoms as they grow older. Some common signs and symptoms include:

• Speech and Language Delays: Children with cleft lip or palate may have trouble articulating words correctly, leading to speech and language delays [5].
• Ear Infections and Hearing Loss: Orofacial clefts can increase the risk of ear infections and hearing loss in children [6].
• Trouble Breathing: Some children may experience breathing difficulties due to the cleft [7].
• Frequent Ear Infections: Children with orofacial clefts are more likely to have frequent ear infections, which can lead to further complications [6].
• Hearing Loss: Hearing loss is a common symptom associated with orofacial clefts [6].
• Eye Problems: Some children may experience eye problems, such as crossed eyes or lazy eye, due to the cleft [7].
• Speech Problems: Orofacial clefts can lead to speech problems, including difficulties articulating words correctly [5].

It's essential for parents and caregivers to work closely with a care team experienced in managing orofacial clefts to ensure proper treatment and support for affected children.

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 orofacial clefts:

• Prenatal Ultrasound: A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy [6]. This test uses sound waves to create pictures of the developing unborn baby.
• Blood Tests: Blood tests, such as a complete blood count (CBC), may be ordered to rule out other conditions that may cause similar symptoms [8].
• Chromosomal Studies: If there is a strong family history of isolated clefts or if the cleft is part of a syndrome, chromosomal studies may be recommended to identify any genetic abnormalities [7].
• Imaging Tests: Imaging tests, such as X-rays and MRI scans, may be ordered to evaluate the extent of the cleft and rule out other conditions.

It's worth noting that most cases of orofacial clefts are isolated, but they can also be a manifestation of over 400 different syndromes [11]. Diagnostic testing, including amniocentesis or chorionic villus sampling with chromosomal microarray analysis (CMA), should be offered when an orofacial cleft is detected.

References:

[5] May 16, 2024 — Orofacial clefts, especially cleft lip, can be diagnosed during pregnancy by a routine ultrasound. [6] Feb 28, 2024 — A prenatal ultrasound can detect cleft lip and palate by around week 16 of pregnancy. [7] Jan 9, 2024 — Preoperative tests may include blood tests, X-rays, special tests, or referrals to other specialists. [8] Jan 9, 2024 — Blood tests - Complete blood count (CBC) [11] The majority of orofacial clefts are isolated, although CL±CP can be a manifestation of over 400 different syndromes.

Limited Role of Drugs in Orofacial Clefts

According to search results, drugs may have only a limited role in the origin of isolated orofacial clefts (OFCs) [1]. However, some studies have suggested possible associations between OFCs and certain medications.

• Phenytoin, carbamazepine, oxytetracycline, and thiethylperazine: These anti-seizure/anticonvulsant drugs, antibiotics, and other medications have been linked to an increased risk of OFCs [1].
• Oxprenolol and amoxicillin: There is a possible association between the use of these medications during pregnancy and the development of OFCs [1].

It's essential to note that while there may be some evidence suggesting a link between certain drugs and OFCs, the overall role of medication in the origin of isolated OFCs appears to be limited.

Differential Diagnosis of Orofacial Cleft

The differential diagnosis of orofacial cleft involves identifying other conditions that may present with similar symptoms. According to various sources [1, 2, 3], the following are some of the key factors to consider:

• Prenatal exposure: Exposure to alcohol, antiepileptic drugs (such as phenytoin), isotretinoin, cigarette smoking, and maternal diabetes during pregnancy can increase the risk of orofacial cleft [4].
• Genetic syndromes: Certain genetic syndromes, such as trisomy 13, trisomy 18, and Wolf-Hirschhorn syndrome, are associated with orofacial clefts [5].
• Other congenital anomalies: Orofacial cleft may be part of a larger spectrum of congenital anomalies, including craniofacial abnormalities, cardiac defects, and other birth defects.

To accurately diagnose orofacial cleft, it is essential to consider these differential diagnoses and perform a thorough clinical evaluation. This includes a detailed medical history, physical examination, and diagnostic imaging studies as needed [6].

References:

[1] by A Babai · 2023 · Cited by 32 [2] May 16, 2024 [3] by W DeMyer · 1967 · Cited by 299 [4] May 1, 2014 [5] by A Babai · 2023 · Cited by 32 [6] Aug 15, 2024