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Cleft Lip

Cleft lip is the most common craniofacial birth anomaly, which may be accompanied by a cleft palate and other concurrent anomalies. Furthermore, it is associated with numerous complications.


Presentation

The clinical presentation of cleft lip is highly variable. The most frequently observed appearance is a left sided, unilateral cleft lip accompanied by a cleft palate. Other combinations include a unilateral or bilateral cleft lip with or without a cleft palate. Note that a cleft palate is found in nearly 90% of children with a bilateral cleft lip and almost 70% of patients with a unilateral cleft.

With regards to comorbid anomalies, 25% of children with a cleft lip exhibit cardiac and neurologic defects, and clubfoot [6] [7].

Complications

Children with clefts develop trouble with speech and hearing, as well dental deformities. Additionally, they are at risk for developmental and social delays [8].

Clinical signs

In addition to the remarkable physical appearance of the cleft lip, the infant has difficulty with sucking and feeding, especially if a cleft palate is also present.

Asymptomatic
  • Patients may be asymptomatic or may experience dysphagia, xerostomia, several periodontal disease, or multiple caries. There are few reports of patients with congenital gland aplasia with cleft lip and palate.[ncbi.nlm.nih.gov]
Prolonged Bleeding
  • Here, we report the first known case of congenital platelet disorder and von Willebrand disease presenting as prolonged bleeding after cleft lip and palate repair.[ncbi.nlm.nih.gov]
Long Arm
  • In our case, array-CGH analysis documented two de novo deletions ( 1.2 Mb and 400 Kb) of the long arm of chromosome 4, containing four genes: platelet-derived growth factor C (PDGFC), glycine receptor beta subunit (GLRB), glutamate receptor ionotropic[ncbi.nlm.nih.gov]
Ulcer
  • The clinical follow-up showed at first an ulceration of the lesion and then a stable result after propanolol systemic therapy.[ncbi.nlm.nih.gov]
Mandibular Prognathism
  • After the distraction osteogenesis, 2-jaw surgery was performed to correct the maxillary yaw deviation and the mandibular prognathism.[ncbi.nlm.nih.gov]
  • Mandibular prognathism coupled with an extremely hyperdivergent growth pattern was observed. An alveolar bone graft was performed at 10 years of age. At 16 years of age, the ANB angle was -13.7 with a negative overjet of -9.8 mm.[ncbi.nlm.nih.gov]
Nasal Speech
  • Additional surgery may be required on the roof of the mouth to help improve the mobility of the soft palate during speech and limit the escape of air into the nose creating nasal speech (staphylorrhaphy).[mycenters.com]
  • Nasal speech (hypernasality) also can occur in individuals whose palate surgery resulted in deformity or restriction of the palate or in individuals who received surgery much later than the prescribed time frame.[britannica.com]
  • Finally, patients needing prolonged speech therapy, especially those presenting with nasal speech and compensatory articulation, should alert speech pathologists about the possibility of CPO.[doi.org]

Workup

During the evaluation of the patient, the medical team should perform a thorough physical examination of the lips, nose, palate, the throat including the uvula, as well as the head and neck. The team should also conduct a complete exam of the infant's body looking for findings indicative of other organ involvement such as cardiac and/or neurologic anomalies.

The medical team should also assess the infant's capacity to suck and breastfeed and monitor oral intake, weight, and growth.

Further testing will depend on the patient's clinical picture, physical findings, and family history. For example, if a trisomy is suspected, a chromosomal analysis is indicated. Additionally, infants with features suggestive of cardiac abnormalities warrant echocardiography and other appropriate studies [8].

Prenatal ultrasonography

Note that orofacial clefts can be detected by prenatal ultrasonography. If identified during pregnancy, the parents are offered genetic counseling and resources to prepare and coordinate care of infant following delivery.

Preoperative testing

A complete blood count is essential prior to any surgical procedure.

Treatment

The therapeutic management of patients with a cleft lip is best provided by a thoroughly coordinated multidisciplinary team at specialized centers. Throughout the child's development, the comprehensive care should address speech, hearing, dental, and the psychosocial aspects tailored to the patient's needs.

Surgery

Cleft lip surgery is performed by experienced surgical specialists who employ advanced techniques.The goals of the surgery are to establish functional outcome and to improve the cosmetic appearance. The complicated procedures aim to repair the underlying orbicularis muscle and to construct an intact upper lip/nose and nearby structures that are size-appropriate and symmetric.

Surgical planning is challenged by important considerations such as the laterality and width of the cleft, presence of cleft palate, and whether the deformity is syndromic or not. Hence, the surgical repair is typically complex as the distorted anatomy features varying degrees of severity [9].

While the majority of surgeons perform the surgical procedure at 10 to 12 weeks old [10] [11].,the optimal timing of the surgery is debatable. The timing is decided by a number of factors such as the surgeon's preference, anesthetic risks, the presence of concurrent comorbid defects, and family's input. Additionally, surgeons may adhere to the rule of 10s. which refers to the following criteria 1) weight of infant reaches 10 lbs, 2) the hemoglobin is 10g/dL, and 3) the white blood cell count is below 10,000mm3. Another rule is to wait until the infant is older than 10 weeks of age.

Follow-up

Patients should undergo periodic follow-up for evaluation of speech, hearing, dental, as well as psychosocial assessment.

Other

There are various resources available to assist parents while caring for their child. The support resources provide education, networking, financial help, psychosocial therapy, etc.

Prognosis

Postsurgical prognosis

The patient outcome is determined by the contour and symmetry of the repaired lip as well as the overall facial growth.

Note that surgical revisions of the vermilion or scar and further nasal cosmetic procedures are common.

Special considerations

Very importantly, the psychosocial, speech, hearing and dental issues of the patient should be continually managed throughout childhood and possibly adulthood to maximize the individual's ability to live up to his/her potential.

Etiology

Cleft lip can appear in isolation or as a component of a syndrome. Non-syndromic orofacial defects represent 70% of cases. With regards to non-syndromic cleft lip, the etiology is multifactorial with genetic, environmental and teratogenic interplay.

Genetic predisposition accounts for 40% to 60% of affected individuals as observed in studies investigating monozygotic twins. Moreover, researchers have implicated the interferon regulatory factor 6 (IRF6) gene in non-syndromic cleft lip and plate and vander Woude syndrome. The latter is the most common syndrome that features a cleft lip. Other genes have also been identified and these include VAX1, FGFR2, and BMP4.

Risk factors

There are numerous risk factors such as maternal smoking, pregestational diabetes, advanced maternal age (greater than 40 years of age), and possibly maternal infection. Additionally, zinc deficiency may be a risk as well.

Protective effects may include folate use during pregnancy.

The list of potential teratogens includes antiepileptic drugs such as valproic acid and phenytoin, and the acne medication retinoic acid.

Epidemiology

The incidence of cleft lip is highest in Asians and Native Americans, which is 2 in 1000 live births, whereas it is 1 to 1.5 in 1000 live births in Caucasians. This defect is much lower in African and African-Americans with a value of less than 0.5 per 1000 live births [4].

There is a predilection for males [5].

The probability for parents with no family history to produce an offspring with a cleft is approximately 0.1%. The majority of children with clefts do not have affected family members. However, a positive family history is associated with an increased likelihood of developing the defect. Specifically, the risk for two normal parents without a cleft who have one offspring with a cleft lip/palate exhibit a 5% probability of recurrence.

Sex distribution
Age distribution

Pathophysiology

During embryogenesis, the lip develops between weeks 4 and 7. In the fetus with a cleft lip, there is a disruption of the normal processes that form the lip. Specifically, there is a failure of the mesodermal penetration of the frontonasal and maxillary processes and the lack of fusion between the tissues of the lip. Therefore, the result is the malalignment of the orbicularis oris muscles.

A cleft lip may develop as microform, incomplete, or complete. Microform is the milder type, which is characterized by a vertical groove, vermilion notch, and lip shortening. An incomplete cleft lip displays a range of lip disruption but the nasal still is intact whereas a complete cleft exhibits an interruption of the lip, alveolus as well as the nasal still.

Prevention

Orofacial defects likely result from a combination of genetic and environmental factors as well maternal exposures. For example, maternal smoking, pregestational diabetes, and the use of medications such as phenytoin, valproic acid, and retinoic acid all increase the risk of developing clefts. Hence, women contemplating pregnancy (or if already pregnant) should address the following issues (if applicable):

  • Cease smoking
  • Improve and control diabetes
  • Discontinue use of retinoic acid
  • Discuss with the healthcare provider the possibility of switching antiepileptic drugs to safer ones (if possible)

While not definitively proven, zinc and folate deficiencies may be associated with these defects. Hence, women are advised to take a daily multivitamin.

Summary

A cleft lip is a congenital craniofacial defect that affects the lip and nose, and exhibits a deformity of the nostrils and nasal sill [1] [2] [3]. This condition is the result of the lack of proper fusion between the tissues of the lip. While the exact etiology is unknown, this condition is likely multifactorial in origin with genetic, environmental, and maternal exposure interplay. Furthermore, there are risk factors associated with cleft lip such as maternal smoking, pregestational diabetes, and certain teratogenic medications.

There is a wide spectrum of clinical presentations for cleft lip. For example, a cleft lip may occur unilaterally or bilaterally, and may form with a cleft palate. Additionally, a cleft lip can either develop in isolation or manifest as a feature of a syndrome. In the latter, other anomalies may coexist such as those of the heart. Furthermore, there are numerous complications that arise from craniofacial deformities such as speech, hearing, dental, and psychosocial issues.

A cleft lip can be identified during prenatal ultrasonography and confirmed on physical exam of the neonate. The exam should include a full assessment of the lips, nose, throat, head, neck, and of course the patient's full body. The medical team should be careful not to miss any associated findings.

The treatment of the patient warrants a comprehensive multitherapeutic approach which includes coordinated care from skilled professionals and specialists. Early, prompt, and long-term care is essential to achieve good outcomes. A major component of treatment is surgical repair of the cleft lip and nose to restore function and anatomy of these structures. Moreover, these patients require management from all aspects as well.

Patient Information

What is a cleft lip?

A cleft lip is a common birth defect in which the lip does not form correctly during pregnancy. Normally, while the lips of the baby are developing during the 4th and 7th weeks of pregnancy, the tissue on each side of the face connect to each other to form the lips and mouth. In babies with a cleft lip, the tissues in the upper lip do not link to each other. Therefore, there is a gap in upper the lip.

The cleft lip can exist as a condition alone without other issues or it may be part of a syndrome that includes other birth defects.

What causes this condition?

The exact cause of this not known. However, there are risk factors such as genetics, environmental, and maternal exposures. The following are risk factors:

What are signs and symptoms of a cleft lip?

Cleft lip can be part of different presentations. For example, it may appear as:

  • Left-sided (most common), right-sided, or on both sides
  • With a cleft palate
  • Without a cleft palate

If part of a syndrome, the patient may have heart and/or neurologic defects.

Clinical signs include:

Complications include:

  • Trouble with speech
  • Trouble with hearing
  • Dental deformities
  • Developmental and social delays
  • Low self-esteem

How is it diagnosed?

Cleft lip can be diagnosed on prenatal ultrasound and confirmed after birth. During the physical exam of the newborn, the clinician should perform a complete exam of the lips, palate (roof of the mouth), throat, head, and neck. Also, the clinician should examine the baby's whole body looking for abnormalities of the heart, nervous system, and other organs/systems.

How is it treated?

The medical team that cares for infants with cleft lips should include a multidisciplinary approach with surgeons, otolaryngologists, speech therapists, psychologists, dentists, and social workers.

The main treatment is surgical repair of the lip, nose, and other related structures. The surgical procedures are complicated as the skilled surgeon performs specialized techniques to reconstruct the muscle beneath the lip and to restore its function. Also, the surgeon improves the overall cosmetic appearance. It is common for patients to have additional surgeries later to revise nose symmetry and scars.

What is the prognosis?

In order to ensure that the child lives up to his/her fullest potential, care must be provided early and comprehensively in terms of all aspects: speech, hearing, dental, psychological, etc.

Are there special considerations?

There are plenty of resources available to assist and support parents while caring for their child. Parents should also be reassured that this is not their fault.

Note that while feedings may be challenging and difficult, there are special bottles and nipples for the babies.

Can this be prevented?

Since smoking and pre-pregnancy diabetes are risk factors, women who are planning to get pregnant or already pregnant should quit smoking and control their diabetes. Also, women taking medications associated with cleft lip/palate development should speak to their physician about discontinuing them and switching to safer ones. Additionally, women should take a multivitamin daily including folate.

References

Article

  1. Fok D, Kua EH, Por YC. Congenital midline sinus of the upper lip. Singapore Medical Journal. 2015;56(6):e107-9.
  2. Henry C, Samson T, Mackay D. Evidence-based medicine: The cleft lip nasal deformity. Plastic Reconstrive Surgery. 2014;133(5):1276-88.
  3. James JN, Costello BJ, Ruiz RL. Management of cleft lip and palate and cleft orthognathic considerations. Oral Maxillofacial Surgery Clinics of North America. 2014;26(4):565-72.
  4. Kosowski TR, Weathers WM, Wolfswinkel EM, et al. Cleft Palate. Seminars in Plastic Surgery. 2012;26(4):164-169.
  5. Michalski AM1, Richardson SD, Browne ML, et al. American Journal of Medical Genetics, Part A. 2015;167A(5):1071-81.
  6. Skuladottir H, Sivertsen A, Assmus J, et al. Hearing outcomes in patients with cleft lip/palate. Cleft Palate. Cleft Palate-Craniofacial Journal. 2015;52(2):e23-31.
  7. Fitzsimons DA. International confederation for cleft lip and palate and related craniofacial anomalies task force report: speech assessment. Cleft Palate Craniofacial Journal. 2014;51(6):e138-45.
  8. Hartzell LD, Kilpatrick LA. Diagnosis and management of patients with clefts: a comprehensive and interdisciplinary approach. Otolaryngologic Clinics of North America. 2014;47(5):821-52.
  9. Niranjane PP, Kamble RH, Diagavane SP, et al. Current status of presurgical infant orthopaedic treatment for cleft lip and palate patients: A critical review. Indian Journal of Plastic Surgery. 2014;47(3):293-302.
  10. Shaye D. Update on outcomes research for cleft lip and palate. Current Opinion in Otolaryngology & Head and Neck Surgery. 2014;22(4):255-9.
  11. Miachon MD, Leme PL. Surgical treatment of cleft lip. Revista do Colégio Brasileiro de Cirurgiões. 2014;41(3):208-14.

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Last updated: 2019-07-11 22:42