Related Syndromes

There are some 400 known syndromes associated with cleft lip and/or palate. A study (1970) ((Fraser, F. C. (1970) The genetics of cleft lip and palate. American Journal of Human Genetics. 22:336-352.)) by F. C. Fraser noted that approximately 3% of all cases of clefting were associated with known syndromes. A Danish study (1988) (( Jensen, B. L. et al. (1988) Cleft Lip and Palate in Denmark, 1976-1981: Epidemiology, variability, and early somatic development. Cleft Palate Journal. 25:258-269.)) indicated a figure of 4.3% and concluded that this figure probably underestimated the true frequency with which other anomalies were associated with facial clefting. A study carried out in Singapore (1999) ((Yi, N.N., Yeow, V.K., Lee, S.T. (1999) Epidemiology of cleft lip and palate in Singapore–a 10-year hospital-based study. Ann Acad Med Singapore Sept, 28(5):655-9.)) indicated that associated congenital deformities occurred in 1.5% of the total cleft population.


22q11.2DS is the most common genetic syndrome associated with palatal clefts and congenital velopharyngeal dysfunction. The most commonly occurring palatal anomalies are submucous and occult submucous cleft palate.

These anomalies, particularly the occult submucous, are difficult to diagnose in the absence of nasendoscopic evaluation and often go undetected until later childhood for assessment of velopharyngeal dysfunction. It is recommended that the closure of the palate is done early and before the development of meaningful speech for improved outcome.  Therefore, individuals who are diagnosed with 22q11.2DS should be assessed by a cleft-palate team as early as possible.

The hypernasal speech associated with 22q11.2DS was described in the 1950s. Approximately 75 per cent of individuals with 22q11.2DS have hypernasal speech and 62 per cent have articulation problems. In the majority of cases, the onset of speech is delayed, with more significant difficulties associated with expressive language compared to receptive language abilities. Intensive articulation therapy in conjunction with palatal surgery is essential to restore normal speech and resonance.

Pierre Robin Sequence

Pierre Robin Sequence (sometimes referred to as Pierre Robin Syndrome) is a common variation of simple cleft palate. The baby has a combination of cleft palate, a small underdeveloped lower jaw (retrognathia) and a falling of the tongue into the back of the mouth (glossoptosis). This never occurs in combination with cleft lip and is never inherited or passed on.

Stickler Syndrome

Stickler syndrome (SS) is a connective tissue disorder, and is associated with problems of vision, hearing, facial and cleft palate, the joints and the heart. ((SIP (Stickler Involved People) (USA) )) Problems with the eyes include near sightedness (myopia), astigmatism, and cataracts, with a substantial risk of retinal detachment. The associated heart problem is known as Mitral Valve Prolapse. Joint trouble is as a consequence of having hyperextinsible joints resulting in pain and stiffness as the child gets older. Osteoarthritis typically develops in the third or fourth decade. ((Snead, MP, Yates, JR. Clinical and molecular genetics of Stickler syndrome. Journal of Medical Genetics, May 1999, 36(5):353-9. Fulltext at (accessed 30 June 2007) ))

Treacher Collins Syndrome

Also called mandibulofacial dysostosis, Treacher Collins syndrome (TCS) is an ‘autosomal dominant disorder… that results from loss-of-function mutations in the gene TCOF’. ((Dixon, J. et al. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, treacher collins syndrome. Human Molecular Genetics 12 Jun 2000, 9(10):1473-80)) It affects the size and shape of the ears, cheekbones and jaw. The following characteristics will display to varying degrees: downslanting eyes, notched lower eyelids, underdeveloped cheek and jaw bones, and underdeveloped, malformed and/or prominent ears. Cleft palate often occurs with TCS. Breathing problems will also exist which may necessitate the insertion of a tracheostomy tube to assist breathing.

Velocardiofacial Syndrome

Velocardiofacial syndrome (VCFS) is the syndrome most commonly associated with a cleft palate, most usually cleft of the soft palate. A cleft lip may also occur. The incidence of VCFS is approximately 1:2000 of live births, and it occurs in 8% of cleft palate cases ((Figures from the Velo-Cardio-Facial Syndrome Educatioal Foundation in Syracuse, New York, USA. [link verified 07 May 2007])).

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