Roberto Mendoza-Londono, M.D., M.Sc.


Education and Training


Professional Interests


Selected Publications







Last Updated

September 28, 2005


Clinical Geneticist

Division of Clinical and Molecular Genetics

Hospital for Sick Children


Assistant Professor of Paediatrics

University of Toronto


525 University Avenue

Suite 940

Toronto, ON M5G 1X8


Phone: 416-813-6387

Fax: 416-813-5345










Education and Training


  • M.D. Pontificia Universidad Javeriana

Bogotá- Colombia, 1994

  • M.Sc. Pontificia Universidad Javeriana

Bogotá- Colombia, 1998.

  • Pediatrics Residency SUNY Downstate, Department of Pediatrics, Brooklyn, NY 2001
  • Genetics Residency, Baylor College of Medicine, Houston TX. 2004
  • Biochemical Genetics Fellowship

Baylor College of Medicine, Houston, TX, 2005








Professional Interests


As a member of the clinical team at The Hospital for Sick Children I am working on developing a Skeletal Dysplasias and Inherited bone disorders clinic. We have a multidisciplinary team of health professionals interested in providing the best evaluation and care to patients with skeletal defects.

From the perspective of the basic science research, I am interested in mapping genes that participate during membranous bone development, in particular the genes for the CDAGS and Yunis-Varon syndromes






Selected Publications


·         Mendoza-Londono R., Lammer E., Watson R., Harper J., Hatamochi A., Hatamochi S., Napierala D., Hermanns P., Collins S., Roa B, Hedge MR, Wakui K., Nguyen D., Stockton DW and Lee B. Characterization of a new syndrome associating craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus and skin eruption- CDAGS.  Am J Hum Genet. 2005 Jul;77(1):161-8


·         Mendoza-Londono R, Kashork C.D., Shaffer L.G., Krance R. and Plon S. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1/IKAROS genes. Genes Chromosomes Cancer. 2005 Jan;42(1):82-6


·         Napierala D., Garcia-Rojas X., Sam K., Wakui K., Chen C., Mendoza-Londono R., Zhou G., Zheng Q. and Lee B. Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation. Mol Genet Metab. Sept 2005.


·         Brunetti-Pierri N., Mendoza-Londono R., Shah M.R., Karaviti, Lee B. Von Voss-Cherstvoy Syndrome with Transient Thrombocytopenia and Normal Psychomotor Development.  Am J Med Genet. 2004 Apr 30;126A(3):299-302


·         Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono R, Savarirayan R, White SM, Graham JM Jr, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. The mutational spectrum of brachydactyly type C.

Am J Med Genet. 2002 Oct 15;112(3):291-6.



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