Cantú Syndrome

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Yang, C. Cantú Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5143 (accessed on 22 September 2026).

Yang C. Cantú Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5143. Accessed September 22, 2026.

Yang, Catherine. "Cantú Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5143 (accessed September 22, 2026).

Yang, C. (2020, December 24). Cantú Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5143

Yang, Catherine. "Cantú Syndrome." Encyclopedia. Web. 24 December, 2020.

Cantú Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cantu-syndrome

Cantú syndrome is a rare condition characterized by excess hair growth (hypertrichosis), a distinctive facial appearance, heart defects, and several other abnormalities. The features of the disorder vary among affected individuals.

genetic conditions

References

Garcia-Cruz D, Sánchez-Corona J, Nazará Z, Garcia-Crúz MO, Figuera LE,Castañeda V, Cantú JM. Congenital hypertrichosis, osteochondrodysplasia, andcardiomegaly: further delineation of a new genetic syndrome. Am J Med Genet. 1997Mar 17;69(2):138-51.
Grange DK, Lorch SM, Cole PL, Singh GK. Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review ofthe cardiac manifestations. Am J Med Genet A. 2006 Aug 1;140(15):1673-80.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I,Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, NijmanIJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Dominant missensemutations in ABCC9 cause Cantú syndrome. Nat Genet. 2012 May 18;44(7):793-6. doi:10.1038/ng.2324.
Lazalde B, Sánchez-Urbina R, Nuño-Arana I, Bitar WE, de Lourdes Ramírez-DueñasM. Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis,osteochondrodysplasia, and cardiomegaly). Am J Med Genet. 2000 Oct23;94(5):421-7. Review.
Robertson SP, Kirk E, Bernier F, Brereton J, Turner A, Bankier A. Congenitalhypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. Am J MedGenet. 1999 Aug 6;85(4):395-402.
Scurr I, Wilson L, Lees M, Robertson S, Kirk E, Turner A, Morton J, Kidd A,Shashi V, Stanley C, Berry M, Irvine AD, Goudie D, Turner C, Brewer C, SmithsonS. Cantú syndrome: report of nine new cases and expansion of the clinicalphenotype. Am J Med Genet A. 2011 Mar;155A(3):508-18. doi: 10.1002/ajmg.a.33885.
van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, ReutterH, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N,de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB,Hoischen A. Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8;90(6):1094-101. doi: 10.1016/j.ajhg.2012.04.014.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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