Cheiloschisis (cleft palate, cleft lip): what is it, causes, symptoms, photos of children before and after surgery

What are cleft lip and cleft palate?

Cleft palate (cleft palate, cleft lip, medical name - cheiloschisis) - refers to congenital malformations of the maxillary region of the face. There are some differences between these pathologies.

A cleft lip, or cheiloschisis, (which translates to “splitting”) looks like a cleft in the upper lip, which is sometimes large and affects the nasal cavity.

The cleft palate is an unclosed hard and/or soft palate (cleft palate), resulting in a communication between two cavities - the oral and nasal cavities.

In some cases, a child may have both developmental defects. The approximate ratio of children born with this pathology to healthy babies is 1:2500.

Environment

During pregnancy, what a mother takes, eats and drinks is critical to the development of her unborn child. Vitamins and nutrients enter the growing body through the mother's blood. But between a woman and her unborn baby there is a strong protective shell called the placenta. It does not allow some toxic substances to pass through and reliably protects the baby in the womb. While the placenta is really good at filtering out toxins, other dangerous chemicals can pass through this barrier and enter the fetal blood stream.

Cleft lip disease has a genetic cause, so during pregnancy you need to carefully monitor your health.

Causes

Soft and hard tissues of the maxillofacial area are formed by the end of the 8th week of pregnancy. The correct formation of these structures is influenced by both hereditary and external factors.

Also, the development of the defect can be influenced by “breakage” of chromosomes. Regardless of the type of defect - cleft palate or cleft lip, the causes of their occurrence are the same.

The share of hereditary factors in the occurrence of cheiloschisis or cleft palate accounts for about 25%.

This issue has not yet been fully studied. Genetics come to the conclusion that the cause of the development of these pathologies is the action of several genes at once. This is also indicated by the fact that the risk of developing cleft palate and cleft lip in subsequent generations is only 7%.

Chromosome abnormalities account for only 15%. In this case, the newborn also has other multiple severe malformations, combined into entire syndromes.

The remaining 40% comes from external pathogenic factors that affected the fetus in the first 2 months of pregnancy. Some factors come directly from the mother's lifestyle and can be easily adjusted:

• smoking during pregnancy, which increases the risk of developing anomalies by 2 times;
• narcotic substances cause cleft lip or cleft palate in children 10 times more often;
• excessive consumption of alcohol and its substitutes;
• the use of certain groups of antiepileptic drugs and antibiotics;
• lack of vitamin B9 (folic acid), which every pregnant girl needs to take, starting from the first weeks of gestation.

There is a group of internal risk factors that, unfortunately, a pregnant woman cannot influence (non-modifiable)

• the age of the pregnant woman is over 35-40 years;
• fetal hypoxia in early pregnancy;
• partial detachment of the chorion, which causes insufficient nutrition of the tiny fetus and inhibits its development.

And finally, external environmental factors:

• chronic intoxication with pesticides, benzene, mercury or lead.

This can happen if the expectant mother lives near industrial plants or works in a hazardous industry.

Spreading

Among the fair-skinned population, only one child is born with this pathology out of 1000 newborns. Cleft lip is twice as common in Asia. The Negroid race is characterized by the presence of this disease in half of the population. Most often, cleft lip occurs in boys. Isolated clefts on the right side can be found half as often as on the left side, and those in turn can be found 9 times more often than with bilateral cracks. Of the total number of children suffering from this disease, 50% are carriers of combined cleft (lip and palate), 30% - isolated (palate only), and 20% have alveoli and cleft lips. Less than 10% of the settlements are bilateral cracks.

The risk of congenital pathology in the next generation, if one of the parents has a combined cleft, is 4%. If two parents have a cleft lip, the chance of inheriting the disease increases by 9%.

Manifestations of the disease

Despite the causes of the disease, external manifestations are quite typical. Already during the first ultrasound, the expectant mother will be told about the presence and severity of the defect in the baby. So, when such a child is born, a team of doctors will provide him with all the necessary care.

• Cheiloschisis appears as a vertical “gap” in the tissue of the upper lip (see photo above). It may be barely noticeable, or it may extend to the nostril. The lesion can be localized on one side or on both sides at once. Babies may have problems with sucking, so special bottles are used for feeding. Sometimes doctors have to resort to tube feeding.

In the future, children may have problems with teeth (bad bite, missing teeth) and speech (nasal voice and problems with pronunciation).

• A cleft palate in children may not be noticeable upon external examination of a newborn. However, looking into the oral cavity, you can notice a vertical hole in the tissues of the upper palate. From the very first seconds of life, such babies experience problems with breathing and sucking and receive all the necessary help.

In addition to the problems that are typical for cheiloschisis, children with a cleft palate may develop infectious diseases of the ears (otitis) and facial sinuses (sinusitis). This is due to the reflux of inhaled air or liquids from the nasal cavity into the middle ear area.

Toxic substances

Harmful substances such as pesticides and mercury can pass through the bloodstream to the child, thereby causing serious problems in his development. In 2004, an environmental task force studied umbilical cord blood from ten newborns. The researchers found an average of about 200 types of industrial chemicals and pollutants. 180 of these compounds are known carcinogens. There is a theory that the human body system was formed long before the development of most harmful chemicals. Our body is simply not able to recognize and neutralize such elements.

In any case, the health community is convinced that some of these chemicals contribute to the development of birth defects. Foreign scientists have discovered that certain gene regions on chromosomes 1, 2, 3, 8, 13 and 15 are associated with the formation of cleft palate and lip. This study takes an important step to better understand the genetic and environmental causes of disease.

Types of defects

Two large groups of anatomical defects are classified based on various characteristics.

Classification of cheiloschisis:

• By localization: Defect of the upper lip;
• Defect of the lower lip (extremely rare);
• Defect of the upper and lower lips.

Classification of cleft palate (cleft palate)

The principles for classifying median cleft palate are slightly different.

• By external signs: Obvious cleft (diagnosis is not difficult);
• A hidden cleft, in which there is only a deep muscle defect, and the mucous membrane remains intact. When examining such a newborn, the oral cavity appears normal.

Also, both pathologies can be divided into complicated (otitis, sinusitis, pneumonia) and uncomplicated.

The combination of cleft lip and cleft palate belongs to a separate classification category.

Classification

In most cases, the gap forms on one side of the upper lip, mainly on the left. According to statistics, deformation of the right lip is 2 times less common than the left. Sometimes pathology forms on both sides or the lower lip. Bilateral and unilateral clefts can be complete, i.e. lead from lip to nose, or incomplete - limited only to the lip.

One-sided can be hidden - the pathology concerns only muscle tissue and does not affect the skin and mucous membranes. Bilateral can be symmetrical or asymmetrical. In the latter case, the defect is more pronounced on one side.

Diagnostics

Adequate diagnosis of cleft palate or lip is not very difficult. As already noted, the diagnosis of “cleft palate” and “cleft lip” becomes obvious on ultrasound in the 1st – 2nd trimesters of pregnancy.

An external examination of the newborn allows an accurate diagnosis to be made. However, for a more complete examination, it is sometimes necessary to resort to certain research methods:

• radiography of the maxillofacial area to assess bone defects;
• audiometry or hearing test. It is assessed either with the help of special equipment or by careful observation of the baby (his reaction to auditory stimuli). Necessary for large clefts with a high risk of hearing loss up to deafness;
• examination of the sense of smell (the child’s facial expressions and behavioral reactions to certain categories of strong odors are assessed);
• A general blood test is mandatory for all newborn babies, however, in babies with a defect, special attention should be paid to it. An increase in the level of white blood cells - leukocytes, specific inflammatory proteins (C-reactive protein, ceruloplasmin) and an acceleration of the erythrocyte sedimentation rate (ESR) indicate the addition of an infection, which can be quite difficult in weakened children.

Intrauterine facial development

This is a rather complex process of formation and fusion of tissues and bones, which begins by the end of the first month of intrauterine development.

At the fourth week of pregnancy, the embryo can already distinguish five processes (tubercles) that limit the oral cavity: the frontal, paired maxillary and paired mandibular. They participate in the intrauterine formation of the face and gradually grow, merging with each other.

The nasal process of the frontal tubercle and the processes of the maxillary tubercles take part in the formation of the upper jaw and upper lip. As a result of the convergence and growth of the tubercles, clefts are formed between the processes.

Fetal clefts:

• median - develops at the convergence of the mandibular or maxillary tubercles;
• transverse - formed by the mandibular and maxillary tubercles;
• oblique and lateral - formed at the convergence of the processes of the maxillary tuberosities and the nasal process of the frontal tuberosity.

Already by the beginning of the eighth week of embryonic development, the fusion of facial clefts is completed with the formation of the main lines of the face. If for some reason complete fusion of the processes of the embryonic tubercles does not occur, then such clefts persist in the future in the form of congenital anomalies. For example, if the transverse cleft does not heal, a pathologically large mouth is formed (macrostomia), and if the lateral cleft persists, a cleft lip is formed.

Treatment of pathology

The main treatment method for these pathologies is surgery.

Surgery for cleft lip is called cheiloplasty. Most often, it is performed closer to 6 months of age, however, in some cases, the baby may require urgent surgery (during the first month of life).

This is usually associated with extensive defects.

Depending on the affected tissues, perform:

• Isolated cheiloplasty – stitching of the skin, subcutaneous tissue, muscle layer and mucous membrane of the lips;
• Rhinocheiloplasty (Latin “rino” - nose) - additional correction of nasal cartilage;
• Rhinognathocheiloplasty – formation of the muscular frame of the mouth area.

Unfortunately, surgical intervention alone cannot be done. In the first 3 years of life, the baby will have to lie on the operating table 3-4 times.

The successes in the treatment of cheiloschisis are enormous. In most cases, the child is left with only slight lip asymmetry and a barely noticeable scar. And already in adulthood, a person will be able to contact a cosmetologist who will help eliminate minor defects.

Treatment for cleft palate is called uranoplasty. The timing of this operation differs from cheiloplasty - the optimal age is 3-4 years. Earlier surgery may harm the growth of the upper jaw.

For large through clefts, surgery is postponed until 5-6 years. However, by the beginning of the school period, most children receive all the necessary assistance and are no different from their peers.

To ensure that parents do not have concerns about the life and health of the child before surgical treatment, the baby wears a special device - an obturator, which creates an internal barrier between the nasal and oral cavities. With it, the child will be able to eat, breathe and talk normally.

Surgery is only one stage of treatment. The child will definitely need the help of a speech therapist who will form correct speech. And problems with bite and improper growth of teeth will be solved by an orthodontist by installing a braces system.

Unfortunately, some children may have problems in the emotional, volitional and social spheres. Therefore, the help of a child psychologist will come in handy. The baby will feel confident and will not experience problems communicating with peers.

Photograph of children before and after surgery

Complications

A deformity affecting only the lip leads to problems associated with feeding, speech development, tooth growth and hearing.

A child up to one year old eats mainly milk and liquid food. The gap in the lip causes food to sometimes enter the nasal cavity. It is quite difficult to make sure that all the food gets into your mouth. In case of severe pathology, a special feeding tube is used for feeding.

Pathology leads to improper formation and growth of teeth. So, it can lead to the absence of some teeth or, conversely, the appearance of extra ones. In some cases, teeth grow at the wrong angle, which leads to malocclusion and, as a consequence, incomplete chewing of food and deterioration in its processing in the gastrointestinal tract. Irregular tooth growth also contributes to the development of tooth decay.

In many cases, a cleft lip leads to disturbances in the formation of sounds. The voice becomes nasal, speech becomes unclear. It is difficult for a child to pronounce consonant sounds accurately and clearly.

Increased susceptibility to colds. There is a high risk of complications in the form of otitis media, middle ear effusion and, as a consequence, hearing impairment.

The problem of adaptation is one of the most important. A grown-up child feels inferior because he is different from others and because they laugh at him. Closedness and self-doubt develop. Mental tension, susceptibility to depression and stress are often characteristic.

Forecast

The prognosis is very favorable. Thanks to modern methods of surgical plastic surgery, orthopedics and speech therapy, children with a similar diagnosis are almost no different from those around them and lead absolutely fulfilling lives. It is important to approach the child’s long-term treatment and rehabilitation with all seriousness.

At an early age, babies can have problems with feeding and weight gain, and, accordingly, with neuropsychic development. Therefore, you should master specialized feeding techniques and use additional sources of nutrients (energy complexes, vitamins).

Even with successful correction of the defect, the child is advised to undergo regular observation by specialists - a maxillofacial surgeon, a neurologist, an otolaryngologist and an orthodontist. The child will visit these doctors at least once a year until he is 17-19 years old, until all the tissues of the maxillofacial area are fully formed.

Contraindications to surgery

There are some contraindications to the operation:

• Lack of weight.
• Problems with the respiratory system.
• Diseases of the cardiovascular system.
• Birth injuries.
• Congenital defects of vital organs, such as the endocrine, nervous and digestive systems.
• Anemia.
• Physiological jaundice.

Before performing an operation, the specialist must prescribe tests and various examinations, so that contraindications can be identified. 2 weeks before surgery, the patient is also prohibited from taking anticoagulants and acetylsalicylic acid.