Cleft lip and palate

by Abbas Jahangir · June 16, 2024

Cleft lip and palate are the second most common birth defects , after birth defects of the limbs. In Central Europe, cleft lip and palate occur in one in 600 to 700 newborns, with boys being affected slightly more often than girls. The diagnosis is usually established during pregnancy . Treatment can be started immediately after birth and usually continues until adulthood. The goal of the treatment is functional and aesthetic rehabilitation of the patient. Optimal results can only be achieved through effective interdisciplinary cooperation , when experts from many disciplines are involved in the treatment [1].

What are the causes of cleft lip and palate?

Various factors can contribute to the development of cleft lip and palate , the most important of which are:

external influences during pregnancy , such as maternal illness (especially viral diseases such as rubella or mumps , or other diseases such as toxoplasmosis ), lack of vitamins , teratogenic substances ( side effects of drugs , alcohol consumption , use drugs ) and harmful physical influences (X-rays and ionizing radiation ),
genetic disposition: according to the conclusions of the latest scientific studies, genetic factors play a more significant role in the inheritance of cleft lip and palate than previously thought.

In many cases, however, the trigger of the birth defect cannot be identified and the cause of its occurrence remains unclear. For the purpose of prophylaxis , pregnant women are advised not only to avoid the external influences mentioned above, but also to take vitamin preparations – especially B-complex and folic acid . Fissures appear already in the 5th–8th century. week of pregnancy, therefore prophylactic measures are extremely important especially in the first few weeks of pregnancy.

What forms of cleft are there?

According to the degree of severity, the following forms of clefts are distinguished [2]:

Cleft lip:

indicated cleft lip – the least serious (minimum) form,
unilateral cleft lip (incomplete, complete),
bilateral cleft lip (incomplete, complete),
cleft lip and jaw (unilateral, bilateral; incomplete, complete),
total cleft lip and palate (unilateral, bilateral; incomplete, complete) – the lip, jaw and palate are affected.

Isolated cleft palate :

complete cleft palate (i.e. hard palate and soft palate ),
isolated cleft soft palate,
special forms: cleft of the uvula (uvula bifida), submucous cleft palate.

Functional disorders caused by clefts

Depending on the extent and localization (location) of the cleft, various limitations may occur, in particular:

tongue sticking out and breathing difficulties (the tongue has no support in the roof of the mouth),
problems with food intake (the infant cannot develop negative pressure when sucking),
middle ear ventilation disorders (resulting in repeated middle ear infections ),
disorders of voice production (due to the missing septum between the nose and the pharynx ),
mouth breathing (due to the limited ability to breathe through the nose),
deviations in the number of teeth and their position,
defective growth of the upper jaw ,
susceptibility to tooth decay (due to reduced enamel mineralization ).

How is the diagnosis made?

If the lip is affected, in most cases this defect can be recognized during an ultrasound examination in the 20th week of pregnancy. However, isolated cleft palates are still very difficult to diagnose during pregnancy . In approximately 40% of children, the cleft defect is diagnosed after birth [2].

How is cleft lip and palate treated?

The treatment is quite lengthy. Its goal is to completely eliminate (or at least mitigate as much as possible) not only the physical consequences of a cleft, which can be manifested when eating and speaking, but also its aesthetically unfavorable impact. Treatment requires multidisciplinary cooperation, in the Czech Republic it is usually coordinated by a plastic surgeon . In addition to him, however, a number of other specialists participate in the treatment ( neonatologist , pediatric anesthesiologist , pediatrician , ENT specialist , orthodontist , maxillofacial surgeon, speech therapist, geneticist, and possibly even a psychologist ).

In different workplaces, surgical treatment approaches may differ slightly from each other. The number of operations and their timing depend both on the specific form of the cleft defect and on the habits of the specific workplace. However, the basic procedures do not differ in principle.

Recently, the trend of so-called neonatal surgery has been growing in the Czech Republic, where primary reconstruction of the cleft lip (see below) is already performed in newborns; according to experts, there is no need to wait until the 3rd month of life, which was previously the standard procedure. The basic and necessary operation is the primary reconstruction of the cleft defect. Later, the so-called secondary correction and possibly other surgical interventions follow. Some corrections can be made already at school age, while others must wait until adulthood.

Primary operation

The aim of primary surgery (sometimes referred to as “primary cleft lip reconstruction”, “primary cleft palate reconstruction”, etc.) is to close cleft or defectively formed structures:

While primary cleft lip reconstruction can be performed as early as 0-3 months of age, primary cleft palate reconstruction is performed only at 7-12 months of age. Closing the cleft palate before reaching 12 months of age is necessary for proper speech development.
If there is also a cleft jaw, the operation must wait until the 7th-14th. year of life.

Secondary operation

Secondary operations mean “secondary interventions” in the area of the cleft, i.e. surgical measures aimed at improving the functional and aesthetic aspects of the affected area. It belongs here:

aesthetic procedures on the lip and nose (these can be carried out practically at any time as needed, however, with more extensive nose corrections you have to wait until you reach adulthood),
lengthening of the septum that separates the nostrils from each other (for bilateral clefts),
closure of the “remaining holes” in the palate (so-called oronasal fistulas ),
correction of the upper jaw in order to achieve its normal position,
possibly other interventions to support speech production, if, despite the complete closure of the palate and intensive speech therapy care, difficulties in speaking are observed (the child speaks as if “through the nose”, i.e. “mumbles”).

Additional treatment measures

Surgical interventions are far from the only part of the treatment of cleft lip and palate. The following measures contribute equally to the achievement of optimal treatment results:

Lactation counseling: even in the first days of a child’s life, support regarding food intake is extremely important. Specially trained lactation consultants can provide it to mothers [3] In some cases, at least partial breastfeeding is possible .
Speech therapy: help from a clinical speech therapist can be quite diverse: from additional support in lactation counseling (regarding food intake, e.g. which teat on a baby bottle is suitable to use, what is the appropriate position of the body during feeding, or how to hold the bottle correctly) to various strategies to support voice production and speech in general.
Care of an ENT specialist: children with cleft palates more often suffer from hearing disorders , swallowing disorders , speech production disorders and delayed speech development. An ENT specialist can carry out the necessary examinations and prescribe treatment measures, or coordinate with specialists from other fields (e.g. maxillofacial surgery or speech therapy).
Oral, maxillofacial and facial surgery: from the age of about 14, a maxillofacial surgeon can perform a so-called maxillofacial surgery, during which he adjusts the final position and overall condition of the jaw.
Orthodontics : the irregularity of the teeth can be improved with the help of braces .
Psychology: both parents and adolescent patients can benefit from the support of a psychologist to help them cope with the consequences of cleft.

Who can I contact?

Some cleft facial defects can be diagnosed already during pregnancy, but parents will not know the exact diagnosis until after the birth at the latest.

In the Czech Republic, the care of children with cleft lip and palate is centralized at two workplaces: in Prague at the Plastic Surgery Clinic of the Královské Vinohrady University Hospital [4], in Brno at the Department of Pediatric Plastic Surgery at the Brno University Hospital [5].