What is a cleft? A cleft is a congenital birth defect. Expand There may be a cleft (split) just of the lip, just of the palate, or both. They can be one-sided (unilateral) or double sided (bilateral). Unilateral cleft Bilateral cleft
Why do clefts happen? We do not know yet why clefts happen - in some case there is a genetic link. Expand In many cases we do not yet know. In some case there is a genetic link. This is one of the major areas that we are researching. The gene involved in Van Der Woude syndrome (a cleft-related condition) has already been identified.
Are there any other conditions associated with clefts? There may also be other associated conditions. Expand For instance, in a condition known as Pierre Robin Sequence, the palate is associated with a small jaw, making breathing and feeding difficult. In a condition known as Stickler’s syndrome is a subgroup of Pierre Robin Sequence and, there may be associated eye abnormalities, which can lead to retinal detachment and even blindness if not treated. A condition known as 22q11 deletion syndrome (or velocardiofacial syndrome) is frequently associated with a cleft palate or a poorly functioning palate which may not actually be cleft. This has been a major area of research for CLEFT. Please click here to find out more information about 22q11 deletion syndrome. In another condition, van der Woude syndrome (where a cleft may be associated with pits in the lower lip), we now know the gene involved.
How do clefts happen? In the womb, the upper lip develops from three parts and the palate develops in two halves, which then join in the middle. Clefts happen when they fail to join normally. Expand The process of the joining of the gum and lip begins behind the gum at about 6 weeks after conception. If it does not happen, there is a complete cleft of the lip and gum. Sometimes, if the process of joining begins and is not completed, the gum may not be affected. The two halves of the palate join at about 8 weeks and this process, too, may be partial or complete so that clefts may just involve the soft palate or the hard and soft palate.
How frequently do clefts happen? We know that in the UK one in 700 babies are born with a cleft. Expand The figure is higher in Asia and particularly so in people from the Far East. It is estimated that 250,000 babies throughout the world are born each year with a cleft.
What are the physical effects of cleft lip and palate? Children born with a cleft may suffer from speech and hearing problems. Expand Patients may need many procedures to achieve a satisfactory result. These will involve stays in hospitals and may be painful and traumatic – not just for the patients but also for those who care for them. However, other patients have good results after a minimum number of operations. This may be because of the quality of surgery but there are other factors – some of which we don’t yet understand. In the developing world, where cleft patients are frequently not operated on until later in life (if at all), they may be malnourished, unable to talk well or hear properly and will often be social outcasts.
Can clefts have psychological effects? In 21st century society, where looks seem to be paramount, ‘looking different’ can cause a severe sense of insecurity and inadequacy. Expand Children with clefts are often bullied which can lead to a lack of confidence and falling behind at school. If the child or adult has a speech impediment caused by their cleft this can lead to difficulty with communication and associated feelings of inadequacy and isolation through shyness or inhibition. However, with speech therapy and supportive parents most children with clefts in the UK enjoy a happy, secure childhood.
What is a submucous cleft palate? A submucous cleft palate is a variety of cleft palate where the palate may look relatively normal but the muscles that lift the palate for speech are abnormal. Expand The classical signs of a submucous cleft are that the uvula (the dangly bit at the back of the soft palate) is split, there is a bony gap at the back of the hard palate and the midline of the soft palate may look very thin - translucent. However, not all have these classical signs. Submucous clefts may not be recognised at birth. If not they may be diagnosed at a later age because: There may be feeding difficulties in infancy Speech development may be delayed and speech nasal Hearing may be affected and the diagnosis made by an ENT surgeon Sometimes after adenoidectomy which may be done to improve hearing. The adenoids on the back of the throat camouflage the fact that the palate is not functioning normally and the speech becomes nasal when they are removed. Sometimes they are discovered as an incidental finding. Not all submucous palates cause problems with speech or feeding. The diagnosis can be confirmed by investigations such as lateral videofluoroscopy and nasendoscopy. If surgery is indicated, this usually involves an operation to correct the muscles of the soft palate. Sometimes a second operation is needed if the first is not completely successful.
What is Velopharyngeal Insufficiency? In the normal palate, the muscles of the soft palate (velum) are responsible for closing the velo-pharyngeal opening (the opening between the palate and the pharynx – the back wall of the throat). Expand This is essential for normal speech and to prevent regurgitation of food and fluids through the nose. We know that in the UK, the velopharyngeal opening will not close properly in 25% of patients who have a repaired palate – this is called velopharyngeal insufficiency (VPI).