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Cleft lip and/or cleft palate - Oral Mucosal Lesion
Other Resources UpToDate PubMed

Cleft lip and/or cleft palate - Oral Mucosal Lesion

Contributors: James Butterfield MD, Sara Neimanis MD, Clinton Morrison MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Emergent Care / Stabilization:
No emergent intervention or stabilization is needed for cleft lip or cleft palate. Reassure parents and family that no immediate surgical intervention is warranted.

Feeding can be an issue in the newborn period, especially in infants born with a cleft palate. Cleft providers typically recommend a cleft-specific specialty feeding bottle (such as Dr. Brown's Specialty Feeding System), which reduces the work of feeding in infants who are not able to generate suction well due to their anatomy. Consider speech pathology / occupational therapy feeding evaluation depending on institutional protocols.

Diagnosis Overview:
Etiology / pathophysiology:
  • Cleft lip develops from failure of embryologic fusion of frontonasal and maxillary processes between weeks 4 and 7 of gestation. Cleft palate develops from failure of midline fusion of palatal shelves.
  • Cleft lip and/or palate (CLP) can be an inherited defect; however, most instances are caused by spontaneous mutations.
  • The most common inherited cause of clefting is van der Woude syndrome, caused by a mutation in the IRF6 gene, notable for CLP as well as lower lip pits.
Demographics:
  • Age – Congenital deformity occurs in the first months of gestation. Cleft lip is often identified on prenatal ultrasound but is sometimes not discovered until examination at birth. Cleft palate is rarely detected prenatally and is usually found upon newborn examination.
  • Sex – CLP is twice as common in male children, but it is seen in all sexes.
  • Ethnicity – The frequency is highest in Asian populations but affects babies of all races / ethnicities.
  • Socioeconomic status – Children of all socioeconomic statuses are affected.
  • CLP is one of the most common congenital deformities, seen in 0.5-2:1000 live births.
Symptoms and signs:
  • Clefting of the lip and/or palate.
  • Difficulty with feeding in the first days of life.
  • Later in life, these children are at risk for the development of ear infections due to altered eustachian tube function.
Timeline:
  • CLP is the failure of fusion of medial nasal and maxillary prominences during the critical developmental period of 4-6 weeks' gestation. If it develops during this time, it will persist through gestation.
  • Correcting this defect requires surgical intervention.
Predisposing medical history / risk factors:
  • Parents with CLP themselves or who have other children with CLP are at a higher risk of having another child with CLP.
  • Individuals who smoke while pregnant are at a slightly higher risk of having a child with CLP.
  • Advanced paternal age increases the risk that a child will have CLP.
Exposures:
  • Fetal exposure to various substances can lead to CLP, including phenytoin, ethanol, steroids, phenobarbital, diazepam, and isotretinoin.

Codes

ICD10CM:
Q35.9 – Cleft palate, unspecified
Q36.9 – Cleft lip, unilateral
Q37.9 – Unspecified cleft palate with unilateral cleft lip

SNOMEDCT:
66948001 – Cleft palate with cleft lip

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

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Therapy

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References

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Last Reviewed:11/07/2023
Last Updated:11/30/2023
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Cleft lip and/or cleft palate - Oral Mucosal Lesion
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