Why are we Born with a Cleft Lip and Palate?

Cleft lip and palate are detected at birth and are the result of abnormal incomplete development during gestation. What complications can they entail?

The term “cleft lip” comes from Latin and means “lip of a hare”, since this animal has a split upper lip in the center.

Why it occurs

Cleft lip (cheiloschisis) and cleft palate (cleft palate or palatoschisis) are abnormalities commonly associated with each other. In addition, they constitute the most frequent congenital malformations of the head and neck of the human being. Congenital malformations are structural anatomical defects present at birth.
These two malformations are the consequence of incomplete and abnormal facial development during pregnancy. They affect the structures of the face and include:
Malformations in the development of the upper lip that presents a cleft, palatal or palate defect , specifically in the midline that connects the nasal passages and oral cavity (palatoschisis). Finally, bilateral prolongation of this cleft that includes the maxillary bone, the palate and even reaches the uvula or uvula.
The number of reported cases of cleft lip is higher in men and cleft palate in women . The highest risk of its occurrence occurs between the fourth and eighth weeks of gestation. In 20-25% of cases of cleft lip and palate there is some family history. 5% of these two malformations are part of other syndromes .
The factors associated with these congenital malformations can be grouped into two groups :

Environmental causes

They can be physical, chemical or biological and, because they alter embryological development causing malformations, they are called “ teratogens ”. Examples:

  • Maternal infections, mainly viral.
  • Malnutrition.
  • Epileptic mothers who use antiepileptic drugs during the first trimester of pregnancy (phenytoin).
  • Deficiency of folic acid and retinoic acid intake during pregnancy.
  • Maternal alcohol or tobacco use.
  • Exposure to lead, ionizing radiation, pesticides …

Genetic causes

In most cases of cleft lip, the condition is multifactorial in genetic terms, that is, the condition arises from complicated interactions between several genes during development and not from a single mutated gene or heritable genetic syndrome.
A high frequency of lip-palatal fissures is reported in the following South American countries: Bolivia, Ecuador and Paraguay.

Cleft lip and its complications

  • Feeding difficulties : due to the suction problem, due to cleft palate anomalies, an arrest in weight or height is conditioned, leading to malnutrition.
  • Bronchoaspiration : due to the communication between the palate and nostrils, the accidental passage of milk to the lung can occur.
  • Hearing disorders : optic infections or hearing loss (deafness) due to an anatomical alteration of the Eustachian tubes that connect the middle ear with the pharynx.
  • Language disorders : delay or deficiency in language due to a poor implantation of the muscles of the palate, which reduces or alters the hearing function.
  • Dental problems : bad dental position may occur.
  • Emotional problems.

Treatment types

Given the complexity of the maxillofacial deformity, a multidisciplinary management is required where different areas intervene:

  • Surgical treatment : maxillofacial surgery, plastic surgery and anesthesia.
  • Non-surgical treatment : pediatrics, stomatology, pediatric dentistry, otorhinolaryngology, speech therapy, genetics and psychology.

The primary surgical treatment seeks to achieve optimal closure, perfect function and good aesthetic results, which is why it is necessary for the patient to be referred to the specialized unit practically from the first days of life. Up to four surgical events may be required per case.

Can it be prevented?

Prevention should be exercised in pregnant women by daily administration of folic acid, even from three months prior to pregnancy and until week 12 of gestation. Likewise, genetic counseling should be carried out, informing parents of the risk of other cases with cleft lip and palate to avoid the presentation of new cases in families with a history or recognized genetic risk factors.

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