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Cleft Lip: Causes, Symptoms and Treatment

A cleft lip is a congenital opening in the upper lip that forms during early pregnancy. It is one of the most common birth defects and is usually treated surgically.

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Things worth knowing about "Cleft lip"

A cleft lip is a congenital opening in the upper lip that forms during early pregnancy. It is one of the most common birth defects and is usually treated surgically.

What is a Cleft Lip?

A cleft lip, known medically as cheiloschisis (from the Greek: cheilos = lip, schisis = split), is a congenital malformation in which the upper lip does not fully fuse during fetal development. It often occurs together with a cleft of the jaw and the palate, a condition known as cleft lip and palate (CLP).

Cleft lip is one of the most common congenital anomalies worldwide, occurring in approximately 1 in 700 births. It can affect one side (unilateral) or both sides (bilateral) of the upper lip and varies widely in severity.

Causes

The exact causes of cleft lip are not fully understood. Research suggests a combination of genetic and environmental factors:

Genetic factors: A family history of cleft lip increases the risk, and certain gene mutations are associated with the condition.
Folic acid deficiency: Insufficient folic acid intake during early pregnancy is considered a significant risk factor.
Medications: Certain drugs such as antiepileptics or corticosteroids taken during the first trimester may increase the risk.
Alcohol and tobacco use: Consumption of alcohol and cigarettes during pregnancy is associated with a higher risk of cleft formation.
Infections: Certain viral infections during pregnancy may interfere with normal facial development in the fetus.

Symptoms and Forms

The appearance of a cleft lip can range from mild to severe:

Incomplete cleft lip: Only part of the lip is affected; the cleft does not extend to the nose.
Complete cleft lip: The cleft extends from the lip all the way up to the nose.
Unilateral or bilateral cleft: The cleft may occur on one or both sides of the lip.
Cleft lip and palate: A combined form affecting the lip, jaw, and roof of the mouth.

Affected children may experience difficulties with feeding, speech development, and hearing. Dental problems and misaligned teeth are also common.

Diagnosis

A cleft lip can often be detected before birth during a routine ultrasound (sonography) between weeks 18 and 21 of pregnancy. After birth, diagnosis is confirmed through a clinical examination by a pediatrician or specialist. Additional tests such as chromosomal analysis or genetic testing may be carried out to rule out associated syndromes.

Treatment

Treatment of a cleft lip requires an interdisciplinary team including oral and maxillofacial surgeons, pediatricians, speech therapists, orthodontists, ENT specialists, and psychologists.

Surgical Treatment

Surgery is the primary treatment. A typical treatment plan includes:

Lip repair: Usually performed between 3 and 6 months of age.
Palate repair: Typically carried out between 9 and 18 months of age.
Bone grafting (alveoloplasty): Performed during school age if the jaw is affected.
Revision surgery: May be done in later childhood or adolescence for aesthetic refinement.

Additional Therapies

Speech therapy: To support language and speech development.
Orthodontic treatment: To correct dental misalignment.
ENT care: For hearing problems, especially recurrent middle ear infections.
Psychological support: For the child and the family throughout treatment.

Prognosis

With early and comprehensive treatment, most children with a cleft lip can lead a normal, fulfilling life. The functional and aesthetic outcomes are generally very good when treatment is initiated promptly. Long-term follow-up care is essential to monitor the child's overall development.

References

World Health Organization (WHO): Congenital anomalies fact sheet. Geneva, 2023. Available at: https://www.who.int/news-room/fact-sheets/detail/birth-defects
Dixon MJ, Marazita ML, Beaty TH, Murray JC: Cleft lip and palate: understanding genetic and environmental influences. Nature Reviews Genetics, 2011; 12(3):167–178.
American Cleft Palate-Craniofacial Association (ACPA): Parameters for evaluation and treatment of patients with cleft lip/palate or other craniofacial differences. 2018. Available at: https://acpa-cpf.org

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