Diseases

Cleft lip and palate

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The Cleft lip and palate (Harelip) is one of the most common congenital human malformations. The affected upper lip, upper jaw and palate are partially or completely crossed by a gap. The harelip is cosmetically disturbing and can hinder breathing and food intake. However, she is well treated at specialized centers. Read more about the cleft lip and palate.

ICD codes for this disease: ICD codes are internationally valid medical diagnosis codes. They are found e.g. in medical reports or on incapacity certificates. Q36Q35Q37ArtikelübersichtLippen-cleft palate

  • description
  • symptoms
  • Causes and risk factors
  • Examinations and diagnosis
  • treatment
  • Disease course and prognosis

Cleft lip and palate: Description

The term "cleft lip and palate" includes a group of congenital malformations on the face. Here, the upper lip, the upper jaw and hard and / or soft palate have a gap. This pervades either all of these face structures or only parts of them.

In the upper lip, the cleft is reminiscent of the Y-shaped retraction to the nose on the upper lip of a hare. Therefore, the cleft lip and palate is colloquially referred to as harelip. The medical term is cheilognathopalatoschisis.

Cleft lip and palate: shapes

Strictly speaking, a cleft lip and palate is only present if the cleft is continuously present in the upper lip, upper jaw and palate. In fact, this collective term also includes gap shapes in which only one or two of these structures are affected:

  • Cleft lip: cleft only on the upper lip.
  • Cleft lip of the mouth: Column on upper lip and upper jaw. There is no isolated cleft lip with no cleft lip, nor is there a cleft lip and palate without a cleft lip.
  • Cleft palate: cleft only on the palate.

A cleft palate penetrates either the entire palate - ie the hard (front of the palate) and the soft palate (posterior region) - or affects only the soft palate (soft cleft palate, soft palate column). There is no single hard-cleft cleft, however.

Cleft lip and palate: position

On the upper lip, upper jaw and hard palate, the position of the cleft is not central, but slightly to the right or left of the symmetrical middle (paramedian). For example, a cleft lip is always in the area of ​​the so-called Philtrum edge, ie at the edge of the vertical groove that runs from the middle of the upper lip to the nose (Philtrum). In the upper jaw, the cleft runs in the region of the lateral incisor. It can reach there up to the nasal floor. Even in the hard palate, a column is always located laterally of the axis of symmetry, only in the soft palate is it in the middle.

A cleft lip and palate may also be present on both sides. Patients then have two columns, one to the right and one to the left of the center. Only in the soft palate there are no two-sided columns.

Cleft lip and palate: severity

A cleft lip and palate may vary in severity in all sections. A complete cleft lip affects all tissue layers (mucous membrane, muscle, skin) of the upper lip and extends to the entrance of the nose. In the case of an incomplete (partial) cleft lip, on the other hand, the lip is not severed to the nose. Doctors also speak of lip score here.

A column in the upper jaw can also vary in terms of width and extent (upwards, ie towards the floor of the nose). Often it becomes wider V-shaped upwards. The adjacent teeth often have malpositions.

In both the hard and the soft palate, the column may be complete or incomplete and of varying width. In the area of ​​the hard-palate cleft, the oral mucosa, the bony palate plate and the overlying mucous membrane of the nasal cavity are interrupted. The oral and nasal cavities are not separated from each other. Along the soft palate cleft, the oral mucosa and overlying muscle layer are affected. In the smallest form of a cleft palate, only the uvula is split (uvula bifida).

A special form of the cleft lip and palate is the submucous cleft palate. Here, the oral mucosa is preserved in the soft palate, but the overlying muscles and sometimes the suppository split. Through the mucous membrane then typically the air-filled nasopharynx shimmers through black.

Cleft lip and palate: frequency

The cleft lip and palate is a common malformation. In Central Europe, about every 500th child is born with it, with boys are affected at 60 percent more often than girls. In 40 to 65 percent of all cases there is a full-length cleft lip and palate. Just under a third are pure cleft palates. Isolated cleft lip and cleft lip together account for about 20 to 25 percent. One-sided columns appear twice as often on the left side as on the right. The reason is unknown.

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Cleft lip and palate: Symptoms

A cleft lip and palate can lead directly and indirectly to various symptoms and complications. Depending on the form and severity of the malformation, the symptoms also vary. Especially clefts with involvement of the palate are often associated with numerous dysfunctions. Possible symptoms of a cleft lip and palate include:

respiratory disorders

In cleft palate the tongue lacks the palate vault as an abutment. As a result, it can fall backwards in the newborn and relocate the respiratory tract. Serious respiratory problems in babies with cleft lip and palate are rare.

Difficult food intake

Again, the missing palate abutment is the cause. Because infants do not suck at the nipple, they milk them by massaging them between the tongue and the palate. Without a palate, they do not get enough milk. Sole cleft lip, on the other hand, hardly affects food intake.

Disturbed language development

Because there is no closure between the oral cavity and the nasal cavity in cleft palate, the phonation is often disturbed. The affected children nasal when speaking (rhinophony). A cleft lip has little effect on speech. Only very broad forms that are not treated cause speech disorders.

Lack of middle ear ventilation

There is a connection between the middle ear and the oral cavity, the Eustachian tube. When swallowing, it opens automatically for a short time and thus aerates the middle ear or ensures pressure equalization. This mechanism is often disturbed in a cleft palate, the Eustachian tube then no longer opens properly. This often leads to problems such as secretions and inflammation in the middle ear.

stunted growth

A cleft lip and palate often causes an unbalanced distribution of forces in the face. Thus, in a cleft lip or cleft, certain muscles are interrupted, which then start wrong. This creates a muscular imbalance that can lead to growth disorders.

Many children with a cleft lip and palate therefore have malformations of the nose, such as a crooked nasal septum or too small nostrils. In severe cases, this hinders nasal breathing and forces those affected to breathe through the mouth. Also, the jaw growth may be hampered by a gap. The upper jaw then develops too short (maxillary retrognathia) compared to the lower jaw.

Damage and malformations on the teeth

Both the position and the correct number of upper teeth are often affected by a cleft lip and palate. Especially the adjacent teeth are affected. The lateral incisor is often atrophied or even absent. In addition, the teeth close to the teeth often have very little tooth enamel, making them more susceptible to decay.

Dry breathing air

In cleft palate, the inhaled air in the nose is not sufficiently moistened. Dry respiratory air in turn promotes tooth decay and infections in the mouth, nose and throat.

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Cleft lip and palate: causes and risk factors

Various factors favor the development of cleft lip and palate - both external (exogenous) and internal (genetic) influences. It is believed that most clefts are caused by external factors. This includes:

  • high-energy radiation (such as X-rays or gamma rays)
  • certain chemicals and medicines like the antiepileptic Hydantoin
  • Viral infections of mother and child (such as rubella) in pregnancy
  • Alcohol abuse and / or smoking during pregnancy
  • strong physical and / or mental stress of the expectant mother

How big the influence of the individual factors is, can not say exactly. It is only considered certain that they generally promote malformations of the unborn child and thus can lead to a cleft lip and palate.

Genetic influences

A certain amount of cleft lip and palate is familial, that is caused by faulty genes. But not a single gene is the trigger, but several genes are involved (polygenia). The more relatives have the malformation and the closer the relationship, the greater the probability for a child to also get a cleft lip and palate.

If, for example, a parent already has a child with a cleft lip and palate, another child is also affected with a probability of four to six percent. If a parent also has a harelip, the risk increases to 17 percent.

Combination with other malformations

A cleft lip and palate often occurs together with other malformations in certain syndromes. A syndrome is a disease that is composed of various typical symptoms. About half of all cleft lip and palate is part of a more complex syndrome. In total, more than 400 syndromes are known, which can be associated with a cleft lip and palate.

Some of these syndromes are inherited, others are unclear. Examples of syndromes with cleft formation are trisomy 13 and Pierre-Robin syndrome. In the latter, the affected children have a U-shaped cleft palate and in addition a too small lower jaw (micrognathia) and a displaced into the pharynx, often too large tongue (Glossoptosis).

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Cleft lip and palate: investigations and diagnosis

A cleft lip and palate is usually noticeable immediately upon the first examination of the newborn. Only a submucosal cleft palate is not always recognized immediately. An ENT or pediatrician may only become aware of them if the child suffers from middle ear infections unusually often.

Because the affected children often have other malformations, it makes sense to examine them extensively in the first few days of life. For example, the heart, the eyes and the hearing are checked more closely.

Prenatal diagnosis

You may recognize a cleft lip and palate even before birth on ultrasound images. Although there are three ultrasound examinations for pregnant women in Germany in the context of antenatal care, but a precise representation of the face of the unborn child is usually not included.

Only at specialized centers this facial examination is included. An experienced doctor can detect a cleft lip and palate with high probability. Isolated cleft palates are harder to identify. Even at specialized houses only every fifth of them is discovered.

An ultrasound examination of the fetal face is usually carried out when there are already known gap malformations in the family. If a cleft lip and palate is diagnosed, one can determine the shape of the cleft with the so-called volume sonography. If the malformation is part of a hereditary syndrome, this may be determined by certain genetic examinations (karyogram, molecular genetic examination).

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