Abstract
Cantú syndrome (CS) is a rare congenital multiorgan system genetic disorder that was first described by Cantú et al. in 1982 (Cantu et al. 1982). Subsequent reports have described about 150 patients worldwide exhibiting variable clinical manifestations. CS is mainly characterized by congenital hypertrichosis, characteristic facial appearance (Fig. 1), and a wide constellation of cardiovascular abnormalities, including an enlarged heart and patent ductus arteriosus (PDA) (Grange et al. 2019).
Similar content being viewed by others
References
Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P et al (2013) Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities – support for the role of K(ATP) channels in this condition. Eur J Med Genet 56(12):678–682
Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Hernandez A, Nazara Z (1982) A distinct osteochondrodysplasia with hypertrichosis- individualization of a probable autosomal recessive entity. Hum Genet 60(1):36–41
Grange DK, Roessler HI, McClenaghan C, Duran K, Shields K, Remedi MS et al (2019) Cantu syndrome: findings from 74 patients in the International Cantu Syndrome Registry. Am J Med Genet C Semin Med Genet 181(4):658–681
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I et al (2012) Dominant missense mutations in ABCC9 cause Cantu syndrome. Nat Genet 44(7):793–796
McClenaghan C, Hanson A, Sala-Rabanal M, Roessler HI, Josifova D, Grange DK et al (2017) Cantu syndrome-associated SUR2 (ABCC9) mutations in distinct structural domains result in KATP channel gain-of-function by differential mechanisms. J Biol Chem 293:2041
McClenaghan C, Huang Y, Yan Z, Harter T, Halabi CM, Chalk R et al (2019) Glibenclamide reverses cardiovascular abnormalities of Cantu Syndrome driven by KATP channel overactivity. J Clin Invest 130:1116
Roessler HI, Volker-Touw CML, Terhal PA, van Haaften G, van Haelst MM (2018) Cantu syndrome, the changing phenotype: a report of the two oldest Dutch patients. Clin Dysmorphol 27(3):78–83
Roessler HI, Shields K, Grange DK, Knoers N, van Haaften G, Hammond P, et al (2020) Three-dimensional facial morphology in Cantu syndrome. Am J Med Genet A.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2021 Springer Nature Switzerland AG
About this entry
Cite this entry
Roessler, H.I., van Haelst, M.M. (2021). Cantú Syndrome. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1417-1
Download citation
DOI: https://doi.org/10.1007/978-3-319-66816-1_1417-1
Received:
Accepted:
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-66816-1
Online ISBN: 978-3-319-66816-1
eBook Packages: Springer Reference MedicineReference Module Medicine