Cleft lip and palate

The cleft lip and palate columns ( CLP columns, Latin Cheilognathopalatoschisis Greek χείλος cheĩlos lip γνάθος Gnathos jaw; σχίζω Schisis column; Latin palatum palate) are a group of congenital malformations with an incidence of 1:500 are among the most common congenital malformations in humans. They have in common that does not develop normally in embryonic parts of the mouth area. ( German hare lip Latin labium leporinum ) or cleft palate as a " cleft palate " (Latin Rictus Lupinus ) denotes Colloquially the cleft lip often called " harelip " is. These terms are, however, felt by those affected as discriminatory.

The outdated term " harelip " stemmed from the fact that the face of rabbits is characterized by a Y-shaped column of the upper lip to the nostrils.

Formation

During embryogenesis in early pregnancy, parts of the face develop separately and later grow together. At the beginning arise from the first branchial arch, including two Nasenwülste and two Oberkieferwülste on both sides of the embryo. The parts of the left and right Nasenwulstes forwardmost merge between the fifth and seventh week of gestation, and form the intermediate jaw segment. For this later caused the central part of the upper lip ( philtrum ) and the central part of the upper jaw with the four incisors. During the further development of the fused left and right Oberkieferwulst with the already merged Nasenwülsten. From Oberkieferwülsten result, the left and right part of the upper lip on both sides of the philtrum, and the left and right parts of the upper jaw on both sides of the cutting teeth. If this fusion process does not completely or not or tearing the fabric on back that has a cleft lip / cleft result. The disorder may the left, right or both seams concern and leads to one-sided or two-sided to column. Depending on the time at which the fault occurs and how severe it is, is only part of the upper lip ( lip notch), the upper lip alone ( cleft lip ) or the upper lip with the upper jaw affected ( cleft lip and column).

Later, between the tenth and twelfth week of pregnancy when the fetus is about 75 mm in size, merge the palatal processes of the left and right Oberkieferwulstes. From them the hard and the soft palate caused by suppositories. The palatal processes grow along with the forwardmost premaxillary segment. The common point of union is the front palate hole ( incisive foramen ). Ossified The front part and forms the hard palate ( hard palate ). From the rear portions of the soft palate occur ( soft palate or velum ) and the uvula ( uvula ). A disturbance in this unification process has a hard palate or velum column to a row.

The cleft lip and palate columns and the columns are two separate developmental disorders, with the cleft palate often occur along with cleft lip and columns.

Cause

There are given different reasons for the cleft lip and cleft palate. It is mainly due to a combination of hereditary and environmental factors ( multifactorial inheritance):

• There are endogenous, genetic causes ( genetic disease ): Was already a family member of a column affected, then the probability of the occurrence in the offspring is increased. The mode of inheritance is not yet well understood, several genes seem to be involved ( polygeny ). See below: risk for other children
• There are exogenous causes which disturb the embryonic development: Oxygen deficiency during embryonic development ( hypoxemia )
• Maternal smoking
• Alcohol abuse by the mother during pregnancy ( fetal alcohol syndrome )
• Ionizing radiation
• A lack of folic acid or overdose of vitamins A ( retinoids ) and E lead to an increased risk of malformations of the neural tube; a connection with clefts of the face (which does not emanate from the neural tube ) is not contrary to frequently otherwise assignable opinion. Nevertheless, the administration of folic acid is highly recommended due to the prevention of spina bifida. Because the pregnancy is often only noticed when the malformation has already taken place, should be initiated after consultation with the gynecologist even in case of infertility with the intake of folic acid, but no later than when the pregnancy is detected.
• Disease of the mother during pregnancy, such as rubella.
• Hydantoin ingestion ( antiepileptic)
• Fever
• Dioxins
• Intrauterine bleeding.

Gap forms

Depending on when the development of fault has occurred during pregnancy and how serious this was, there are also various gap forms:

Clefts in the so-called primary palate:

• Lip notch: A portion of the upper lip ( vermilion and lip white) is affected. The gap does not extend to the nasal vestibule.
• Cleft lip: ( cheiloschisis ) opening in the upper lip between the mouth and nose. The gap in the upper lip extends from the vermilion to the nostril. The separation point is located along the philtrum edge. For dual-sided columns, the central segment of the upper lip is isolated.
• Cleft lip and cleft: ( Cheilognathoschisis ) The lip and the tooth-bearing part of the upper jaw are affected. The gap extends along the Philtrumkante in the upper lip and along the lateral incisor of the upper jaw.

Clefts, which (also) affect the secondary palate:

• Cleft lip and cleft palate: a combination of cleft lip and cleft palate from
• Cleft palate: The lowest severity level only a gap in the suppository on ( uvula bifida ) occurs. However, there is a gap in the soft palate (Sailing column) or the complete separation of the soft and the hard palate occur. The mouth and the nasal cavity are then not separate.

Columns on one side ( unilateral) or both sides ( bilateral) occur. The left side is more commonly affected, the reason for which is unclear. The columns begin either at the lip and proceed to the rear, ( lip notch ⇒ cleft lip ⇒ lip, cleft ) or they start the uvula at the back and walk forward continuously ( Uvulaspalte ( split uvula ) ⇒ Uvulaspalte, soft palate ⇒ Uvulaspalte, soft palate, hard palate ).

In the cleft palate occur in hidden columns ( submucosal cleft palate ). Although necessary for normal development of speech and ear ventilation muscles of the soft palate is divided, conceals the overlying intact mucosa column.

In the International Statistical Classification of Diseases and Related Health Problems ( ICD-10 ) of the World Health Organization Congenital malformations, deformations and chromosomal abnormalities Q35 - Q37 in the block divided the lip, jaw and palate in Chapter XVII:

Note to LAHS code: The letters refer to the affected anatomical part:

• L = cleft lip
• A = cleft ( alveolus )
• H = hard palate
• S = Sail column

Not affected anatomical parts are represented by a minus sign. The left part of the code refers to the right half and vice versa.

If a column along with other developmental disorders on, it is usually part of a syndrome: eg Mikrodeletionsyndrom 22q11 (formerly Catch-22 or velocardiofaziales syndrome), Patau syndrome ( trisomy 13), Edward syndrome ( trisomy 18), Cri -du -chat syndrome, van der Woude syndrome.

Frequency of occurrence

Lips, jaw, cleft palate occurs more often in families where a family member already has a column. The probability of another occurrence depends on the type, severity ( seriousness), the number of people affected in the family and the degree of relationship from. Cleft lip and cleft palate ( clp- columns) are with an incidence of 1:500 to the most common congenital malformations in humans. Approximately 15% of all malformations are cleft lip and cleft palate.

• In healthy parents and an affected child, the risk of the next child is about 4-6 %.
• In healthy parents and already two affected children, the risk for the next child is about 9 %.
• In one affected parent is the risk for the first child about 3%, with already an affected child for the next child 15-17 %.
• If both parents are affected, the risk to the child is possibly over 35 %, which is still below the recurrence risk for an inherited according to Mendel's laws disease.

For a variety of pedigree analyzes were estimated by the Interdisciplinary Centre for cleft lip and palate columns of the University Hospital Würzburg, the figures for the genetic recurrence risks as follows:

There are geographical and ethnic differences in the occurrence. In the population of indigenous people of Australia, America, Canada, India and in the population of Asian descent columns occur frequently. The fewest gaps are found in the African population. The European population is in the middle.

The report of EUROCAT Congenital Anomalies and Public Health includes data from Europe:

The World Health Organization indicates the following frequencies:

The WHO figures, the Pierre Robin sequence is included.

In the cleft lip columns boys are affected more often than girls. The isolated columns of the palate affect girls more frequently.

The columns are more common on the left than on the right side. Approximately 15 % are two-sided columns.

Effects and problems

An isolated cleft lip makes preoperatively few problems, the food intake is not disturbed. After combining the lip ring muscle that labials can still cause problems, which can be solved by training logopaedic however.

A complete cleft lip and cleft palate or an isolated cleft palate can have multiple effects:

• Breathing is difficult: In unilateral cleft lip and palate, a nose is often flattened, the nasal septum and curved nasal breathing may be hindered.
• Problems in food intake in the neonatal period, the suction is difficult. In cleft palate food can pass into the nasal cavity. The Haberman Feeder facilitates oral feeding. In particular, breastfeeding a child with a soft palate cleft is difficult and often needs to be supported by special aids. An increased amount of time is normal, a palatal plate can facilitate the intake of food policy.
• Speech problems, because the balance between nasal and oral resonance chamber may be disturbed. The conclusion of the soft palate to the posterior pharyngeal wall and the lateral pharyngeal walls may be incomplete even after palate surgery. The result is a hypernasaler vocal tone, vowels are pronounced with too much involvement of the nasal resonance chamber ( twang / hypernasality ). During phonation / articulation in particular the plosives (p / b, t / d, k / g) and fricatives ( f / s / sh ) are frequently changed (usually shifted back into the pharynx or throat area) spoken.
• Ear, nose and throat disorders: A soft palate cleft affects the middle ear ventilation ( eustachian tube ) in many patients. Effusions, ear infections, cholesteatoma and impaired speech development due to negative Hörbilanz can be the result.
• If the upper jaw is affected teeth may be missing or misaligned teeth occur. Also by scar formation after surgery and by the muscular imbalance in the mouth before the operations malpositions of the teeth can occur, even if the jaw itself is not affected by the gap formation.
• For lack of acceptance by the environment (for example teasing by other children because of a speech impediment or scars on the face ) mental health problems can be the result.

Treatment

In the gap centers, an interdisciplinary team performs the treatment, which includes representatives from the pediatric oral and maxillofacial surgery, orthodontics, Oto- Rhino-Laryngology, Phoniatrics and Pediatric Audiology, Speech Therapy and breastfeeding and nutritional advice belong.

• In cleft palate the nasal cavity is separated in the first few days by a removable palatal plate from the mouth. The term " drinking plate " is misleading because the palatal plate control especially the growth of the split jaw segments, enabling a physiological position of the tongue and to establish nasal breathing. As a side effect it also provides an abutment for the teat or nipple, and can facilitate the intake of food. The structure of a suction vacuum but it does not enable.
• Close monitoring of hearing; if required, the insertion of Ventilation tubes, in order to ensure the ventilation of the middle ear and to prevent the occurrence of infections.
• Primary operations: closure of lip, palate and hard palate in several steps (more timely treatment concept ) or in a full -OP ( single-stage procedure, "Basler concept "). The lip is usually operated at the age of three to six months. Respect to the date of the operation of the palate (hard palate and soft palate ) are competing views in the gap centers. Firstly, the palate should be closed as early as possible to allow normal language acquisition, on the other hand, the operation should be done as late as possible in order to disrupt the growth process of the jaw by surgical scars as little as possible. The soft palate is operated depending on the gap center with three to twelve months, depending on the hard palate center with 6 to 18 months. For double-sided columns, a nose bridge extension ( Columellaplastik ) is often necessary.
• Secondary operations: If the affected jaw, at the age of six to ten years, a so-called Kieferspaltosteoplastik may be necessary. This material is bone ( cancellous bone ) is introduced from the iliac crest into the jawbone to give the permanent teeth more stability. After completion of growth of the bony portion of the nose can be permanently straightened.
• Speech Supporting operations: because the soft palate after the operative association often is not fully functional, it may cause harmful interference to nasopharyngeal statements come ( velopharyngeal insufficiency). Then it can be useful to support the function of the sail by surgery ( Velopharyngoplastik, Levatorunterstützungsplastik ). After creating a more favorable anatomical conditions by the OP, however, a speech therapy is necessary.
• Treatment of malocclusions ( Orthodontics )
• Orofacial regulation therapy according to Castillo Morales
• Improve the aesthetics (asymmetry of the nose, nose shape, lip shape, scars)
• Speech therapy ( Speech Therapy )
• Early intervention for the treatment or prevention of psycho- social problems

In the gap centers, patients (and their guardians ) shall be discussed in the regular gap consultations of representatives of all participating disciplines ( pediatrics, oral and maxillofacial surgery, orthodontics, HNO-Heilkunde/Pädaudiologie, speech therapy, nursing and nutrition advice) on the further treatment of the column.

Mental care

The long and complicated treatment during childhood and adolescence also brings psychological consequences. It should increasingly pay attention these children and their parents on mental health by taking psychological support during the course of the therapeutic follow-up system to complete and this from an early age, as recommended by the American Cleft Palate Craniofacial Association. Parents can seek advice in self-help groups and find help and support.