cleft

Generality

The cleft lip is a congenital malformation of the mouth, characterized by the simultaneous presence of the cleft lip and cleft palate.

The cleft lip is an anomaly of the mouth characterized by the presence of one or two cracks on the upper lip; the cleft palate, on the other hand, is an anomaly of the palate, which is manifested by a crack along the soft palate and / or on the hard palate.

The precise causes of cleft lip and palate are unknown. According to the most reliable hypotheses, the condition would be due to a combination of genetic and environmental factors.

The presence of cleft lip and palate can lead to difficulties in sucking mother's milk and eating, speaking problems, dental problems and predisposition to otitis of the middle ear.

Cleft lip is a malformation that is difficult to identify before birth. His birth diagnosis, on the other hand, is practically immediate and requires a simple physical examination.

Currently, cleft lip is a curable condition with excellent results. The main treatment is surgical and consists in closing the cracks on the upper lip and palate.

What is cleft lip and palate?

Cleft lip is a congenital malformation, belonging to the category of oro-facial clefts . It is characterized by the simultaneous presence of the so-called cleft lip and the so-called cleft palate .

The cleft lip, also called cleft lip or cheiloschisis, is a malformation of the mouth that manifests itself with one or two characteristic cracks at the level of the upper lip, sometimes extended to the floor of the nasal nostrils.

Cleft palate, on the other hand, is a malformation of the palate that presents a characteristic cracking at the level of the soft palate and / or hard palate, sometimes connected to the nasal cavities.

Therefore, those born with cleft lip has one or two cracks on the upper lip, which can also affect the skin space below the nose, and a crack on the palate, which can be so deep that it also affects the nasal cavities.

Medical meaning of cleft and facial cleft

The word schisi is synonymous with spacing . In medicine, this term indicates the presence, on an anatomical organ, of a tissue fissure along the median line, consequent to a welding error.

Typically, cleft is a congenital condition (ie present since birth). Thus, the welding error, which leads to the appearance of tissue cracking, takes place during embryonic development.

The oro-facial clefts are a group of malformations that involve the presence, on the mouth or on the face, of a fissure or tissue spacing of variable amplitude.

The phenomena of oro-facial cleft can affect the palate (cleft palate), the upper lip (cleft lip), ears, eyes, nose and forehead.

Epidemiology

In the so-called Western World, cleft lip and palate affects 1-2 newborns per 1, 000 newborns.

In important countries such as the United Kingdom or the United States, it is the most common congenital physical malformation.

Cleft lip and palate - and, more generally, all forms of oro-facial cleft - are more widespread in Asian populations, Caucasian whites and so-called Native Americans, while they are uncommon among Africans and African Americans.

Causes

In the human being, the lips and the palate form between the fourth and the ninth week of fetal development and result from a process that sees the tissues of the future aimed to grow from the sides of the face towards the center of the latter and weld together. at the time of mutual achievement.

Therefore, the formation of the lips and the palate - as well as the other structures present at the center of the face (nose, forehead, etc.) - represents the final stage of the embryonic process of creation of the face.

In people with cleft lip, welding of tissues, which, coming from the sides of the head, must give rise to the lips and the palate, does not happen or occurs incorrectly. Failure to weld the aforementioned tissues leaves a crack in the upper lip and a crack in the palate: the first crack is the characteristic cracking of the cleft lip, while the second crack is the cleft that is characteristic of the cleft palate.

WHAT DOES LABIOPALATOSCHISI DETERMINE?

The precise causes of cleft lip and palate are still a mystery.

According to the most reliable scientific researches, the malformation in question would be due to a combination of genetic factors and environmental factors .

With regard to genetic factors, researchers believe that the cleft lip may depend, at least in part, on one or more DNA mutations / anomalies taking place shortly after conception (therefore in the first moments of embryonic development). Studies carried out in this regard have shown that, in the human genome, there are genes (short but significant DNA sequences), whose alteration (due for example to a mutation) is responsible for a wrong development of facial features (lips and palate) included).

With regard to environmental factors, scholars believe that some behaviors or conditions of the mother, during pregnancy, may compromise the normal development of lip and palate formation processes. Among the behaviors and conditions of the mother that could play a role on the appearance of the cleft lip, are:

• Smoking . In this regard, the numbers speak for themselves: children with cleft lip or another cleft-facial cleft, who were born to women smokers, are more than children with the same malformations born of non-smoking women. Based on this observation, the experts concluded that women who smoke during pregnancy have a greater tendency to give birth to children with cleft lip, compared to non-smoking women;
• Use certain drugs . Among the incriminated medicines, we note: the antiepileptics / anticonvulsants (valproic acid, tapiramate etc.), the medicines for acne based on accutane and methotrexate.

  On antiepileptic / anticonvulsants it is worth adding that the assumptions considered most dangerous are those that occur during the first trimester of pregnancy;

• Diabetes . Statistical studies have shown that women with diabetes are more likely than non-diabetic women to give birth to children with cleft lip;
• Drinking alcohol . The same applies to smoking;
• Obesity . Among obese women during pregnancy, researchers observed a greater propensity to give children with a cleft lip;
• Advanced age . The advanced age of the pregnant woman is a condition associated, in general, with a greater probability of genetic defects affecting the fetus;
• Folic acid deficiency .

IS IT A HEREDITARY CONDITION?

In the past, having noticed the recurrence of cleft lip in certain families has led some researchers to consider the hypothesis that the malformation in question could have a hereditary origin.

However, subsequent research did not reveal any data in favor of the aforementioned hypothesis; therefore, the experts have discarded the idea that, on the development of the cleft lip, it could affect some hereditary component.

Symptoms, signs and complications

The typical symptoms of cleft lip and palate consist of:

• Difficulty sucking mother's milk and eating . In the human being, the correct anatomy of the lips and palate is essential to suck the milk from the mother, during the first years of life, and to take food, at a later stage.

  A buccal malformation such as cleft lip and palate makes it difficult, in those who are affected, to suck the bed from the maternal breast, in infants, and to take food, in the larger untreated subjects.

• Speech problems . People with cleft lipids tend to express themselves in an unclear way and, for this reason, to have different difficulties in relating to others.

  Furthermore, as they age, they have a tendency to develop a nasal voice.

• Teeth problems . People suffering from cleft lip and palate often develop an anomalous dentition, misaligned and easily subject to caries.
• Recurrent ear infections ( otitis ). The cracking present on the palate of those suffering from cleft lip is responsible for a more or less severe deformation of the Eustachian tube. This deformation of the Eustachian tube predisposes the middle ear of cleft lip and palate to accumulate liquid inside it.

  The abnormal accumulation of fluid in the middle ear promotes bacterial proliferation and the consequent appearance of otitis.

  Failure to treat otitis leads, in the long run, to a decrease in hearing ability and, in the most serious cases, deafness.

Diagnosis

In general, the diagnosis of cleft lip is performed shortly after birth, by means of a simple physical examination . Moreover, the malformations of the upper lip and palate are evident from the first moments of life, even to an inexperienced eye.

PRENATAL DIAGNOSIS: IS IT POSSIBLE?

The various ultrasounds of the fetus in utero, to which normally pregnant women undergo during the 9 months of pregnancy, are able to show any malformations of the lips but not of the palate (or in any case it is very rare). Therefore, a certain prenatal diagnosis of cleft lip and palate, through prenatal ultrasound examinations, is impossible or, at least, very unlikely.

Having said this, doctors could in any case have suspicions, since ultrasound detection of the cleft lip - a potentially visible malformation - may suggest that the latter is associated with cleft palate.

Therapy

The treatment of cleft lip and palate includes a series of surgical interventions and medical therapies aimed at improving the symptomatology (therefore the difficulties in speaking, recurrent otitis, etc.).

SURGERY

During the lifetime, patients with cleft lip and palate may have to undergo surgery up to the age of 18.

The first surgical operation is usually scheduled between the 2nd and 3rd month of life - therefore quite early - and consists in closing the crack on the upper lip . With regards to this operation, it should be pointed out that the presence of two cracks on the upper lip requires surgeons to perform the surgery in two sessions, a session for the closure of a slit and the second session for the closure of the slit that remains.

The second surgical operation is scheduled a few months after the first, usually between the 6th and 12th month of life, and consists in closing the crack on the palate.

Therefore, from now on, the subsequent surgical operations will take place only when the patient is older (adolescent and late adolescent age) and will aim to perfect the aesthetic appearance and functionality of the upper lip and palate.

Since the first two surgical operations - which represent two obligatory stages of the treatment of cleft lip - the number of operations to which an individual with cleft palate must undergo depends, mainly, on the severity of the malformations. This means that the more severe the upper lip and palate anomalies, the more likely it is that a long series of operations is needed.

Some important notes:

• According to the doctors, in order for the first and second operations to succeed successfully and provide good results even in the long term, they must take place within a certain age. Specifically, for the first intervention the age limit is the year of life; for the second intervention, however, are the 18 months of life.
• In general, the rule holds that the sooner the first two surgical procedures are performed, the longer-term results will be more satisfactory.

MEDICAL THERAPIES

Medical therapies implemented in the case of cleft lip and palate include dental care, treatment and prevention of otitis, a therapy focused on improving speech and language skills, etc.

Medical therapies for cleft lip and palate can last several years.

WHAT SPECIALISTS DO THE LABIOPALATOSCHISI DEAL?

The treatment of cleft lip and palate involves a team of specialists, who work closely together for a common purpose: the good of the patient.

Among the professional figures that generally deal with subjects with cleft lip, include:

• The plastic surgeon. He is the specialist in charge of assessing the malformation of the upper lip and palate and establishing the most appropriate surgical treatment.
• The otolaryngologist. It is the figure that is responsible for the evaluation of ear problems, the search for a solution to the accumulation of fluid in the middle ear and the planning of the most adequate therapy in case of otitis.
• The oral surgeon (or odontostomatologist). It is the specialist who, together with the cosmetic surgeon, provides for the repair of the abnormal palate, with the final aim of eliminating or at least greatly reducing the difficulties in eating.
• The orthodontist. He is the specialist in charge of giving the teeth a normal, aligned appearance.
• The dentist. It is the professional who takes care of caries, in order to preserve teeth.
• The prostodontist. It is the specialist who creates dental prostheses for those patients with cleft lip and palate who develop very serious dental problems.
• The speech therapist. He is the expert who has the task of improving language skills.
• The psychologist. It is the figure that has the task of relating to the patient's family, to understand what the mood of the entire family unit is.

Prognosis

Thanks to modern surgical techniques, cleft lip biopsies today present a prognosis, in most cases, favorable.

In fact, although they last for several years, cleft lip and palate treatment guarantees excellent results, so that many patients, at the end of treatment, tend to have a normal-looking face, to speak clearly and to feed themselves adequately and without problems.

Prevention

As long as its triggering causes are unclear, cleft lip and palate will remain an impossible condition to prevent.

WHAT CAN YOU DO?

To reduce the risk of giving birth to a child with cleft lip and palate, doctors advise pregnant women to control presumed environmental factors, therefore they recommend: not smoking, controlling body weight, monitoring blood sugar and avoiding intake of those drugs associated with the onset of cleft lip (anticonvulsants, anti-acne based accutane etc.).