Related Syndromes

Posted on May 7th, 2007

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There are some 400 known syndromes associated with cleft lip and/or palate. A study (1970)¹ by F. C. Fraser noted that approximately 3% of all cases of clefting were associated with known syndromes. A Danish study (1988)² 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)³ indicated that associated congenital deformities occurred in 1.5% of the total cleft population.

Other studies have reported figures which may not be directly comparable with those listed above. A French investigation by Stoll et al (2000)⁴ indicated that of 460 cleft infants born in Northeastern France between 1979 and 1996, 36.7% had associated malformations. A Portuguese study (1999)⁵ of 284 patients indicated that 27.5% had associated malformations. Analysis of data for the Magdeburg region in Germany (1998)⁶ indicated that 22% of all children with oral clefts had additional malformations.

Note: The large differences in the figures reported above may be due to the distinction between what constitutes a syndrome and what constitutes a malformation. A syndrome is where a number of conditions exist together, while referral to associated malformations may actually indicate a single condition existing in association with a cleft. [Eddie Byrne]

Included are details of but a few known syndromes.

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1. Fraser, F. C. (1970) The genetics of cleft lip and palate. American Journal of Human Genetics. 22:336-352. [↩]
2. 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. [↩]
3. 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. [↩]
4. Stoll, C. et al. (2000) Associated malformations in cases with oral clefts. Cleft Palate Craniofacial Journal. Jan. 37(1):41-7. [↩]
5. Duarte, R., Leal M.J. (1999) [The range of congenital malformations associated with cleft lip and palate]. [article in Portuguese] Acta Med Port Apr-Jun, 12(4-6):147-54. [↩]
6. Rosche, C., Steinbicker, V., Rose, I. (1998) [Incidence of facial clefts in the Magdeburg region] [Article in German] Mund Kiefer Gesichtschir. Jan, 2(1):5-10. [↩]

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