Non-syndromic cleft lip

Cleft lip is a facial alteration consisting of a separation of the upper lip, which occurs during embryonic development and causes problems in feeding, speech and social integration of affected individuals. It appears in 1 out of every 700 births and is usually accompanied by cleft palate. Seventy percent of cases are not associated with any syndrome.

Cleft lip, cleft lip or cleft lip is one of the most common congenital defects. It consists of the appearance of a cleft or separation of the upper lip due to incomplete fusion of the maxillary and nasomedial processes during embryonic development. It constitutes 15% of congenital malformations and is usually accompanied by cleft palate.

In most cases it is a multifactorial condition and a minority of them are associated with inheritable genetic syndromes. The cause of the condition is unknown, although certain factors have been identified that may increase the risk of its occurrence:

  • Genetic factors. If one of the parents has a cleft lip, the probability of having an affected child is between 2-8% (the overall probability is around 0.14%).
  • Mother's age, being more common in babies born to older women.
  • Folic acid deficiency during pregnancy
  • Consumption of alcohol and tobacco during pregnancy
  • Consumption of certain medications during pregnancy, such as topiramate.
  • Ethnic origin. This condition is more common in Asians and less common in Africans.

Symptoms

Cleft lip can be diagnosed in pregnancy by ultrasound. The clinical manifestation is the appearance of a more or less large separation of the lip that may extend into the palate to a greater or lesser degree. Non-syndromic cases are not associated with other clinical manifestations.

Treatment is surgical and is usually done in the first 12 months of life, although the approach depends on each case. The presence of this cleft can lead to problems with feeding, difficulty swallowing, nasal voice or chronic ear infections.

Prevention

The causes of the appearance of non-syndromic cleft lip are unknown, so it is difficult to prevent its appearance. The only measures recommended, for the moment, to reduce the probabilities of having an affected child are to take prenatal vitamins adequately and to avoid the consumption of alcohol, tobacco and drugs related to this type of malformation.

Number of observed variants

13.5 million variants

Number of loci analyzed

9 loci

Genes analyzed

CTSC CYRIA DLK1 FGFR4 IRF2 IRF6 MAFB RASSF9 SHTN1

Bibliography

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