From prenatal diagnosis to follow-up in adulthood: a multidisciplinary path that accompanies child and family in the management of this malformation, including surgery, functional support and quality of life
When the expression “hare lip” is pronounced at birth, parents don’t know what to expect: will it just be an aesthetic problem? Will our baby be able to eat and speak normally? How many surgeries will be necessary?
Today we know that, thanks to structured care pathways and multidisciplinary follow-up, the majority of children with cleft lip grow well, develop effective language and lead full and independent lives.
Definition and forms of the malformation
What is harelip? This is a congenital malformation of the upper lip due to failure of tissue fusion during embryonic development. From a medical point of view it is defined as cleft lip or cleft lip, terms synonymous with the so-called cleft lip disease.
The cleft can involve only the lip or also extend to the gum and palate, configuring more complex conditions such as cleft lip and palate or cleft cheilognato.
From an anatomical point of view they are distinguished:
- isolated forms of the lip (cleft lip);
- forms involving the gum and dental arch (cheilognatoschisis);
- complete forms with involved palate (cleft lip and palate).
The malformation can be:
- unilateral or bilateral;
- partial or total (complete cleft lip).
It is often associated with a change in the shape of the nostril, called cleft nose, due to the same tissue fusion defect.
The term “hare lip” derives from the appearance of the upper lip which resembles that of the hare, although today more technical definitions are preferred because they are less stigmatizing.
The incidence is approximately 1 case in every 700-1,000 live births, which makes it one of the most frequent congenital craniofacial malformations.
Causes and risk factors
The causes of cleft palate (and cleft lip) are almost never unique: today we know that the etiology is multifactorial, that is, it includes the interaction between genetic factors and environmental factors during the first weeks of pregnancy.
In fact, there is a hereditary component: having cases of cleft lip or cleft palate in the family slightly increases the probability that the condition will also occur in the child, even if in most cases it still arises in families with no previous history.
In addition to the genetic predisposition, some maternal elements can intervene during gestation, such as smoking, alcohol, drugs or the intake of teratogenic drugs. Nutritional deficiencies also play an important role: low levels of folic acid, vitamin B6, vitamin B12 and zinc are associated with an increased risk. Among the maternal conditions considered relevant we also find obesity, diabetes, advanced maternal age and infections. However, the real weight of these variables is not yet clearly defined.
To understand the origin of this malformation, we must look at embryonic development. The upper lip is formed between the 5th and 7th week of gestation, while the palate completes its formation between the 7th and 12th week. In this period the different parts of the face must come together and merge: when the fusion of the tissues does not occur completely, a communication remains between the mouth and nose, which gives rise to the cleft.
Prenatal diagnosis
Today, in most cases, the malformation is recognized already during pregnancy. Prenatal diagnosis of cleft lip occurs mainly during the morphological ultrasound of the second trimester, when the specialist carefully observes the profile of the fetal face. At this stage it is often possible to formulate a reliable prenatal cleft lip diagnosis, allowing parents to be informed and taken care of early by a specialized center.
Three-dimensional (3D/4D) ultrasound techniques can help to better visualize the labral discontinuity and explain the appearance of the malformation to parents, while in selected cases fetal magnetic resonance imaging provides further anatomical details.
Isolated cleft lip is generally clearly visible already in the prenatal period; more difficult, however, is to recognize cleft palate, especially when it only affects the soft palate, because the internal structures of the mouth are less accessible to ultrasound.
When the malformation is large, bilateral or associated with other signs, a genetic investigation may be proposed via chorionic villus sampling or amniocentesis, useful for excluding chromosomal syndromes or associated genetic conditions. Prenatal diagnosis is not only useful to “know before”, but above all to organize birth, nutrition and therapeutic path from the first days of life.
What happens at birth
At birth, the presence of the malformation is generally evident: in newborns, the neonatologist carries out an objective examination of the oral cavity and face, checking whether only the lip or also the gums and palate are involved. When the cleft affects the soft palate it can be less immediate to recognize and requires more careful observation inside the mouth.
After diagnosis, the most important step is early referral to a specialized cleft lip center. Here the child is taken care of from the first days of life by a multidisciplinary team made up of a maxillofacial or plastic surgeon, neonatologist/paediatrician, ENT, speech therapist, orthodontist and psychologist.
The first evaluation serves above all to organize feeding, reassure parents and plan the therapeutic process. Knowing already in the first few weeks what the stages will be – growth, possible aids, timing of the intervention – greatly reduces family anxiety and allows you to face the situation with greater serenity.
Problems in newborns and children
In children with cleft lip, the difficulties vary greatly based on the type of cleft and the involvement of the palate. But some consequences of cleft lip are quite typical in various stages of growth.
In the first months the main problem concerns feeding: sucking can be ineffective because good negative pressure is not created in the mouth and part of the milk can leak out of the nose. This does not mean that the baby will not grow well, but that it requires adapted feeding techniques and a little patience.
Other functional aspects may appear with growth. The abnormal connection between the mouth and the middle ear favors recurrent otitis media and the presence of fluid behind the eardrum, which sometimes require eardrum drainage. If persistent, these conditions can temporarily affect hearing.
The involvement of the palate can also interfere with the production of sounds: some children have a nasal voice or difficulty pronouncing consonants, which is why speech therapy is often indicated. Furthermore, dental alterations (missing, supernumerary or misaligned teeth) are frequent and will be followed by the orthodontist during growth.
Finally, there are also emotional aspects: the aesthetic aspect and any language difficulties can influence self-esteem and social relationships, especially at school age. For this reason, psychological support, when necessary, is an integral part of taking charge.
Pre-surgical management and support for parents
Before surgery, the main objective is to allow the newborn to feed well and grow peacefully. Feeding requires some precautions: compressible bottles or specific teats are often used, which facilitate the flow of milk without requiring completely effective sucking. When possible, breastfeeding can also be attempted with guided positions and longer times, helping the baby to coordinate sucking and swallowing.
In some cases, palatal plates or small temporary orthodontic devices are applied, useful for separating the oral and nasal cavities and making eating easier.
The support of the team is fundamental: dedicated nurses (cleft nurses), speech therapist/dysphagist and pediatrician teach parents practical daily techniques and monitor growth while waiting for surgery.
Comparison with other families and dedicated associations can also be very useful: knowing what to expect reduces anxiety and helps parents face the first months of their child’s life with greater confidence.
Surgical treatment
Surgical treatment represents the central moment of the treatment process. The surgery for the correction of the cleft lip is planned by the specialist team taking into account the growth of the child and the type of cleft.
Generally, lip correction is performed around 3-6 months of life, while any interventions on the palate are scheduled later, often within the first year. The timing may vary slightly from center to center, but the objective is to intervene at a time that is safe from an anesthetic point of view and favorable to functional development.
The purpose of the surgery is not just aesthetic: it works to restore the anatomy of the lip, improve muscle function and promote correct speech development and facial growth. The techniques used include myocheiloplasty (reconstruction of the lip and muscles), palatoplasty when the palate is involved, possible corrections of the nose (rhinoplasty) and, later in growth, possible bone grafts at the gum level.
The surgery is performed under general anesthesia, with high safety standards. The hospital stay is usually short, about 2-4 days, and the child quickly returns to his daily habits.
Post-operative and follow-up
After the operation an equally important phase begins: the post-operative and follow-up of the cleft lip. In the first few days, pain, nutrition and wound healing are monitored; babies typically resume feeding quickly and quickly return to their routine.
As the months pass, the aesthetic and functional results become visible, but the treatment does not end here. Cleft lip and palate is a condition that accompanies growth and requires a gradual process, follow-up during development up to adulthood, with periodic checks by the multidisciplinary team.
Over time, the following may be necessary:
- speech therapy, to promote correct pronunciation;
- orthodontics, to guide the alignment of the teeth and the growth of the arches;
- any secondary surgeries in adolescence to refine the lip or nose;
- monitoring facial growth and hearing.
Particular attention is also dedicated to scar management and psychological support, useful for accompanying the child and family in the different stages of growth.
Prognosis and quality of life
With an adequate treatment path, the prognosis is generally very good. Today the majority of children operated on for harelip grow well, eat, speak and carry out daily activities like their peers, being able to lead a full and satisfying life.
The result depends above all on the care of a multidisciplinary team and on the continuity of checks over time: periodic visits, from early childhood to adulthood, allow early and gradual intervention on language, dentition and harmonious facial growth.
It is essential that parents have realistic expectations: it is not a single intervention that “solves everything”, but a process accompanied over time. Precisely this continuity of care is what today allows children with cleft lip and palate to develop harmoniously and to have a quality of life comparable to that of their peers.
