orofacial cleft 12

Orofacial Clefts: A Complex Congenital Anomaly

Orofacial clefts (OFCs) are a major congenital structural anomaly that is notable for significant lifelong morbidity and complex etiology. The prevalence of OFCs varies from 1/500 to 1/2500 births depending on geographic origin, racial and ethnic backgrounds, and socioeconomic status.

Prevalence and Incidence

• In many parts of the world, the incidence of OFCs is reported to be around 1 in 700 for cleft lip and palate (CLP) and 10-25 in 100,000 for cleft palate only (CPO).
• Around 7,000 infants are born with OFCs annually in the United States.

Physical, Psychological, and Socioeconomic Effects

• Clefts have significant physical effects on the patient, including difficulties with feeding, speech, and hearing.
• They also have significant psychological and socioeconomic difficulties on both the patient and the family, reducing the quality of life.

Types of Orofacial Clefts

• The major types of OFCs include unilateral/bilateral cleft lip with or without cleft palate (CL/P) and cleft palate only (CPO).

References: [12] - The prevalence of orofacial clefts varies from 1/500 to 1/2500 births depending on geographic origin, racial and ethnic backgrounds, and socioeconomic status. [14] - Around 7,000 infants are born with OFCs annually in the United States. [14] - Clefts have significant physical effects on the patient, including difficulties with feeding, speech, and hearing.

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].
• Speech and Language Delays: As they grow older, children with cleft lip or palate may have trouble speaking and communicating effectively [3].
• Trouble Breathing: Some individuals may experience breathing difficulties due to the gap in their upper lip or palate [4].
• Frequent Ear Infections: Repeated ear infections are a common symptom of orofacial cleft [5].
• Hearing Loss: Hearing loss can occur in some cases, affecting an individual's ability to communicate effectively [6].
• Eye Problems: Some individuals with orofacial cleft may experience eye problems, such as dry eyes or vision issues [7].
• Speech Problems: Difficulty speaking and articulating words is a common symptom of cleft lip and palate [8].

It's essential for parents and caregivers to work closely with a care team experienced in treating orofacial cleft to ensure proper diagnosis and treatment. Early intervention can significantly impact the individual's quality of life and overall well-being.

References: [1] Context #3 [2] Context #6 [3] Context #6 [4] Context #7 [5] Context #7 [6] Context #6 [7] Context #8 [8] Context #8

Diagnostic Tests for Orofacial Clefts

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

• Ultrasonography: This is currently the gold standard for prenatal diagnosis of facial malformations, particularly orofacial clefts [1]. Ultrasonography can detect most cases of cleft lip and palate during pregnancy.
• Two-dimensional ultrasound: This imaging technique is often superior to MRI in evaluating small or less severe clefts [3].
• MRI (Magnetic Resonance Imaging): Foetal magnetic resonance imaging scans may be offered to know the extent of the cleft, but rarely alter the management of the condition [4].
• Blood tests: Blood tests, such as a complete blood count (CBC), may be performed to rule out other conditions that may be associated with orofacial clefts.
• Chromosomal studies: If indicated, chromosomal studies may be performed to identify any genetic abnormalities that may be contributing to the condition [7].
• Cardiac evaluation: A cardiac evaluation may also be performed to assess for any potential heart defects that may be associated with orofacial clefts.

It's worth noting that most cases of cleft lip and palate are diagnosed at birth, so special tests are not always needed. However, in some cases, additional testing may be required to confirm the diagnosis and rule out other conditions.

References: [1] A Baeza-Pagador · 2024 · Cited by 5 [3] Jun 14, 2020 [4] by U Kini · 2023 · Cited by 13 [7] Jan 9, 2024

What are drugs?

Drugs, also known as medications, are chemical substances that produce a biological effect when administered to a living organism [12]. They can be used for various purposes, including treating diseases, alleviating symptoms, and preventing infections.

Types of drugs

There are several types of drugs, including:

• Prescription drugs: These are medications that require a prescription from a healthcare professional before they can be obtained.
• Over-the-counter (OTC) drugs: These are medications that can be purchased without a prescription.
• Recreational drugs: These are substances used for non-medical purposes, often to produce a feeling of euphoria or relaxation.

Drug use and disorders

Unfortunately, drug use disorders are associated with significant costs to society due to lost productivity, premature mortality, increased healthcare expenditure, and other social consequences [13]. According to the World Health Organization (WHO), about 296 million people aged 15-64 had used psychoactive drugs in 2021.

References:

[12] - A drug is any chemical substance that produces a biological effect when administered to a living organism. [13] - Drug use disorders are associated with significant costs to society due to lost productivity, premature mortality, increased healthcare expenditure, and other social consequences.

Differential Diagnosis of Orofacial Cleft

Orofacial clefts, including cleft lip and palate, can be diagnosed through various methods. However, differential diagnosis is crucial to determine the underlying cause of the condition.

• Prenatal exposure: Prenatal exposure to alcohol, antiepileptic drugs (phenytoin and others), isotretinoin, cigarette smoking, and maternal diabetes have been linked to an increased risk of orofacial clefts [6].
• Chromosomal disorders: Other chromosomal disorders underlying different syndromes characterized by orofacial clefts include trisomy 13, trisomy 18, and Wolf-Hirschhorn syndrome [9].
• Genetic predisposition: Some cases of orofacial clefts may be due to genetic predisposition, with a family history of the condition increasing the risk.
• Environmental factors: Environmental factors such as maternal nutrition, vitamin deficiencies, and exposure to toxins during pregnancy may also contribute to the development of orofacial clefts.

Key Points:

• Prenatal exposure to certain substances increases the risk of orofacial clefts
• Chromosomal disorders can cause orofacial clefts in some cases
• Genetic predisposition and environmental factors may also play a role

References:

[6] May 1, 2014 - Differential Diagnosis​​ Prenatal exposure to alcohol, antiepileptic drugs (phenytoin and others), isotretinoin, cigarette smoking, maternal ...

[9] 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 ...