Cleft Lip and Palate

Cleft and other associated conditions (syndromes)

Sometimes when a child is born with a cleft lip and/or palate there is a chance that they may have additional medical condition/s. These associated conditions include ‘Pierre Robin Sequence’ (PRS), Stickler Syndrome and 22q11 Deletion Syndrome. Pregnant mothers whose unborn child is diagnosed with a cleft lip will be offered further tests because these babies are more likely to be born with a syndrome than babies without a cleft. Some are offered an amniocentesis test (where a sample of the fluid surrounding the developing baby is taken and analysed) in an attempt to detect syndromes with potentially greater impact such Edwards and Down's syndrome. 

The most common condition to be associated with a cleft is Pierre-Robin Sequence (PRS). PRS is usually detected at birth because these babies can be born with an unusually small chin. These babies usually have a cleft palate because the tongue does not fall into place properly while the baby is developing. The cleft is usually wide and U-shaped and will affect the hard palate at the front of the mouth and the soft palate at the back.  

Children born with PRS may also experience breathing difficulties. Clinical Nurse Specialists (CNS) will advise families on an individual basis but very often they recommend these infants sleep and feed on their sides in the weeks following birth. Babies born with PRS may also need help with their airway and are sometimes a naso-gastric tube – this is a tube that goes straight into the baby’s tummy so that food can be delivered directly and this avoids the risk of milk going down the wrong way when the baby is feeding.
Because of their reduced airways some PRS babies may have a difficult time with anaesthesia so the anaesthetist and the rest of the surgical team will take special precautions during surgery (See ‘Cleft treatment pathway’).

Stickler Syndrome is also associated with cleft palate. However it is a much rarer condition and may often go undiagnosed. Stickler Syndrome (SS) is a genetic condition and is normally passed on from parent to child. It can affect both boys and girls. Having Stickler Syndrome reduces the amount of collagen, the connective tissue which supports the organs and covers the bone ends within each joint, in the body. Collagen also helps to make the eyes work properly so children born with Stickler Syndrome will require regular check-ups at an eye hospital. This syndrome is also associated with heart murmurs such as ‘mitral valve prolapse’ and so visits to paediatric heart doctors (Cardiologists) may also be needed. 
22q11 deletion syndrome is also known as DiGeorge Syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome. It occurs because of a fault on chromosome 22 and can cause characteristic or unusual facial features, heart abnormalities, palate problems (e.g. an isolated cleft palate, a submucous cleft palate (where there is a layer of skin covering the cleft) or a soft palate that looks normal but still causes problems with speech or feeding), low blood calcium levels and low immunity to infection. Babies born with 22q11 deletion syndrome may have some or all of these conditions and each to a varying degree. 
Sometimes a child born with a cleft can have unidentified genetic conditions and will receive long-term medical follow-ups to ensure that any conditions that may emerge are diagnosed as early as possible. 

Last reviewed June 2017.

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