Cleft Lip and Palate (Cleft Lip and Palate)

Cleft lip and palate (LKG cleft) (synonyms: LKG cleft; cheilognathopalatoschisis; cheilognathoschisis; cheiloschisis; diastematognathia; palatoschisis; uranoschisis; uvula cleft; uvula cleft; velum cleft; ICD-10-GM Q35-Q37: cleft lip, jaw, and palate) are among the congenital disorders. Cleft lip and palate are distinguished from simple cleft lip or palate.Isolated cleft lip and palate occur between the fifth and seventh weeks of gestation. Cleft palates do not occur until between the second and third months. Cleft lip and palate usually occur laterally, but can also be median (middle). A lateral cleft lip and palate can occur unilaterally or bilaterally. Cleft palates may involve the hard and/or soft palate. Furthermore, clefts are divided into incomplete and complete clefts. An incomplete cleft extends to the end of the upper lips, whereas a complete cleft extends to the nasal entrance. The incidence (frequency of new cases) is approximately 1 per 500-700 newborns per year in Europe. This makes this malformation one of the most common congenital malformations in humans. Cleft lip and palate is more common in the aboriginal populations of Australia, Canada, the Americas, India, and in populations of Asian descent. Course and prognosis: Cleft lip and palate should be surgically corrected at an early stage. Thanks to improved therapeutic interventions, there is a very high probability that only a small fine scar will remain. However, if the deformity is very pronounced, it can lead to restrictions in food intake as well as speech and/or hearing development, but also to breathing problems and malocclusions of the teeth. Depending on the problems that arise, the appropriate specialists must be consulted. Therapy can often take years and thus requires a lot of patience.

Symptoms – Complaints

A cleft lip and palate brings numerous problems that must be eliminated to allow the newborn to lead a normal life.First, breathing may be difficult, and second, food intake is severely impaired by the cleft formation and food may enter the nasal cavity. The cleft formation prevents proper jaw growth.Speech development cannot take place normally due to the anatomical changes and is significantly restricted. Hearing disorders, disorders of phonation, rhinophonia aperta (open nasal) or even delayed speech development may occur.In some patients, ventilation of the middle ear is also impaired.Aesthetics are significantly impaired and should not be disregarded along with the other symptoms.

Pathogenesis (development of disease) – etiology (causes)

This disease is due to a developmental disorder during the embryonic period.Both endogenous (endogenous) and exogenous (exogenous) influences play a role. It has long been known that mutations of the TP63 gene can trigger particularly severe forms of this disorder. However, it is now also known that TP63 regulates several thousand sites in the genome, including 17 that are known to be involved in the development of clefts due to large genetic studies. In terms of external factors, alcohol and nicotine consumption by the mother during the embryonic period are particularly indicated as risk factors. Likewise, a deficiency of folic acid or an increased intake of retinoids can promote cleft formation.Also a harmful influence by ionizing radiation as well as chemical or physical influences are assumed as possible causes. The antiepileptic drug topiramate can lead to malformations if taken in early pregnancy. In women prescribed topiramate during the three-month period before pregnancy through the first month, cleft lip and palate occurred in 4.1 per 1,000 children (versus 1.1 per 1,000 children in women who did not receive topiramate).

Follow-up

Today, cleft lip and palate can be treated so comprehensively that sequelae such as impaired speech development or gaps due to the nonattachment of teeth in the cleft area can be detected and treated at an early stage.

Diagnostics

A cleft formation can often be detected prenatally (before birth) in the womb.From about the 22nd week of pregnancy, it is possible to reliably detect this malformation during a sonography (ultrasound examination).

Therapy

The treatment of a cleft lip and palate is always carried out in collaboration with many doctors from different specialties in order to achieve an optimal therapeutic result. These primarily include orthodontists, oral and maxillofacial surgeons, ear, nose and throat specialists, and speech therapists.The infant initially requires a palate or drinking plate to separate the oral and nasal spaces to allow feeding. likewise, the development of the jaw is affected. As a rule, the drinking plate is inserted in the first week of life. Since the child grows quickly and the jaw also changes, the drinking plate must be checked and adjusted regularly. The drinking plate also fulfills the important function of growth control. Already in the first year of life the first surgical correction takes place, the closure of the lip (labiaplasty). For this, the child should be about four to six months old and have reached a weight of five to six kilograms. The closure of the hard and soft palate (palatoplasty) follows. There are both one-stage and two-stage approaches. One-stage concepts recommend closure during the first year of life in order to allow speech to develop as unhindered as possible. In the two-stage procedure, the hard and soft palate are closed in separate operations several years apart to allow undisturbed upper jaw growth. The surgical procedure can be performed on an outpatient basis without any disadvantages. In some patients, a tympanostomy tube is inserted to improve middle ear ventilation.Around the second year of life, speech therapy begins, which actively supports the surgical therapy.In the course of development, both speech-enhancing surgery (veloparyngoplasty) and surgery to improve aesthetics follow. Speech enhancing surgery does not have to be performed in all children. However, if rhinophonia aperta (open nasal passage) remains due to a disturbed closure between the nasal and pharyngeal cavities, velopharyngoplasty should be performed while the child is still at preschool age to give them a normal start in school. Sometimes bone has to be inlaid in the cleft area (jaw cleft osteoplasty) in order to stabilize the alveolar process (part of the jaw in which the tooth compartments = alveoli are located). The bone for this is usually harvested from the patient’s pelvis. The optimal time for this procedure is after the lateral incisor has fully erupted. The root growth of the canine should be about two-thirds complete at the time of surgery. Since teeth often do not grow in the gap area, it may be necessary to close the gap by means of an implant or bridge restoration after growth has been completed. The aim is to achieve the best possible treatment result both functionally – i.e. in terms of eating, drinking and speaking – and esthetically. The treatment of a cleft lip and palate is lengthy and does not end until growth is complete. Regular check-ups, speech therapy, orthodontic treatment and several surgical procedures are necessary to enable the affected child to lead a normal life.