Photo of Jonathan Zonana, M.D.

Jonathan Zonana M.D.

Dr. Zonana completed his M.D. at the University of Pennsylvania Medical School in 1972 prior to entering his residency at the University of Southern California Medical Center, Los Angeles. He went on to do his fellowship in medical genetics at Harbor-UCLA School of Medicine. He became board certified in pediatrics in 1978, and in medical genetics in 1982.

Dr. Zonana has been an instrumental part of the Child Development and Rehabilitation Center (CDRC) since 1979, when he joined the faculty as an assistant professor of medical genetics and pediatrics. He has served as the director of the CDRC Genetics Program for over 20 years. Dr. Zonana is currently a professor in the departments of pediatrics and molecular and medical genetics.

Dr. Zonana’s special interests are in clinical genetics, cancer genetics, dysmorphology, molecular genetics, and ectodermal dysplasia.

  • Residency:

    • University of Southern California Medical Center, Los Angeles
  • Fellowship:

    • Medical genetics - Harbor-UCLA School of Medicine, Torrance
  • Certifications:

    • American Board of Pediatrics, 1978
    • American Board of Medical Genetics and Genomics (ABMGG) - Board Certification


  • "Hepatocellular carcinoma in arteriohepatic dysplasia" American Journal of Gastroenterology  1993
  • "Hypohidrotic ectodermal dysplasia, osteopetrosis, lymphedema, and immunodeficiency in an infant with multiple opportunistic infections" Pediatric Dermatology November 1 2014
  • "Relative importance of bacteremia and viremia in the course of acute fevers of unknown origin in outpatient children" Pediatrics  1981
  • "Classifying ectodermal dysplasias" American Journal of Medical Genetics, Part A September 2009
  • "Distal 19q duplication" Human Genetics May 1982
  • "Rhizomelic chondrodysplasia punctata and survival beyond one year" Clinical Genetics  1990
  • "Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia" Proceedings of the National Academy of Sciences of the United States of America June 19 2001
  • "Craniosynostosis, bony exostoses, epibulbar dermoids, epidermal nevus and slow development" Syndrome Identification  1977
  • "Clinical and genetic characterization of manifesting carriers of DMD mutations" Neuromuscular Disorders August 2010
  • "Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment" American Journal of Human Genetics January 1993
  • "Macrocephaly with hamartomas" American Journal of Medical Genetics, Part A  1984
  • "Hereditary considerations in common disorders." Pediatric Clinics of North America August 1978
  • "Macrocephaly with multiple lipomas and hemangiomas" Journal of Pediatrics  1976
  • "Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia" Nature Genetics August 1999
  • "Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA)" Human Molecular Genetics October 1993
  • "Further clinical and molecular delineation of the 15q24 microdeletion syndrome" Journal of Medical Genetics February 2012
  • "Condylomata acuminata as a sign of sexual abuse in children" Journal of Pediatrics  1979
  • "Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region" European Journal of Pediatric Surgery  1993
  • "Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations" Journal of Clinical Investigation  2002
  • "Genetic disorders of the thyroid" Medical Clinics of North America  1975
  • "Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region" American Journal of Medical Genetics, Part A  1994
  • "Reduced elastogenesis" Orphanet Journal of Rare Diseases  2012
  • "Case report 43" Syndrome Identification  1976
  • "Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression" Human Molecular Genetics June 2012
  • "Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17" Journal of Investigative Dermatology  1996
  • "A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)" American Journal of Human Genetics  2000
  • "Congenital extrarenal malignant rhabdoid tumor in an infant with distal 22q11.2 deletion syndrome" American Journal of Dermatopathology August 2012
  • "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies" Journal of Pediatrics  1981
  • "Dental abnormalities in Schimke immuno-osseous dysplasia." Journal of Dental Research July 2012
  • "Parental origin of the extra chromosome in the cat eye syndrome" American Journal of Medical Genetics, Part A  1988

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