Dr. Neda Zadeh, Pediatric Genetics

At the forefront of genetics and genomics research and well-versed in the latest treatments, Dr. Neda Zadeh is dedicated to caring for patients with developmental disabilities, genetic disorders and birth defects. She has a strong interest in neurocutaneous genetic conditions, muscular dystrophies, craniofacial disorders, connective tissue disorders and the genetics of autism. Dr. Zadeh has authored many abstracts, journal articles and book chapters.

Dr. Zadeh is a medical geneticist in the division of medical genetics at CHOC and the associate director of the Molecular Diagnostic Laboratory at Genetics Center. She specializes in the diagnosis and management of genetic syndromes and birth defects. Dr. Zadeh joined the medical staff at CHOC after completing her internship and residency training in pediatrics at CHOC. She completed a fellowship in clinical genetics at Stanford University and a fellowship in clinical molecular genetics at UCLA. Dr. Zadeh received her medical degree from UCLA School of Medicine.

Dedicated to clinical excellence, Dr. Zadeh is board certified in clinical genetics, clinical molecular genetics and in pediatrics. She is a fellow of the American College of Medical Genetics and of the American Academy of Pediatrics, and a member of the Western Society for Pediatric Research.


CHOC Specialty Clinic
1201 W. La Veta Ave.
Orange, CA 92868
phone: 714-288-3500
fax: 714-288-3510

Genetics Center
211 S Main St
Orange, CA 92868


  • Medical School
    University of California School of Medicine, Los Angeles, CA
  • Internship and Residency – Pediatric
    CHOC Hospital, Orange, CA
  • Fellowship – Clinical Genetics
    Stanford University, Stanford, CA
  • Fellowship – Clinical Molecular Genetics
    University of California, Los Angeles, CA

Administrative Appointments

  • Associate Director, Molecular Diagnostic Laboratory, Genetics Center

Professional Organizations

  • American College of Medical Genetics
  • American Medical Association


Arboleda VA, Lee H, Dorrani N, Zadeh N, Willis M, Macmurdo CF, Manning MA, Kwan A, Hudgins L, Barthelemy F, Miceli MC, Quintero-Rivera F, Kantarci S, Strom SP, Deignan JL; UCLA Clinical Genomics Center, Grody WW, Vilain E, Nelson SF. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. Am J Hum Genet. 2015 Mar 5;96(3):498-506. doi: 10.1016/j.ajhg.2015.01.017. Epub 2015 Feb 26. PubMed PMID: 25728775; PubMed Central PMCID: PMC4375619.

Brennan ML, Adam MP, Seaver LH, Myers A, Schelley S, Zadeh N, Hudgins L, Bernstein JA. Increased body mass in infancy and early toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center defects. Am J Med Genet A. 2015 Jan;167A(1):142-6. doi: 10.1002/ajmg.a.36831. Epub 2014 Nov 17. PubMed PMID: 25402239.

Zadeh N, Bernstein JA, Niemi AK, Dugan S, Kwan A, Liang D, Hyland JC, Hoyme HE, Hudgins L, Manning MA. Ectopia lentis as the presenting and primary feature in Marfan syndrome. Am J Med Genet A. 2011 Nov;155A(11):2661-8. doi: 10.1002/ajmg.a.34245. Epub 2011 Sep 19. PubMed PMID: 21932315.

Zadeh N, Hudgins L, Norton ME. Nuchal translucency measurement in fetuses with spinal muscular atrophy. Prenat Diagn. 2011 Apr;31(4):327-30. doi: 10.1002/pd.2646. Epub 2011 Feb 1. PubMed PMID: 21287566.

Zadeh N, Getzug T, Grody WW. Diagnosis and management of familial Mediterranean fever: integrating medical genetics in a dedicated interdisciplinary clinic. Genet Med. 2011 Mar;13(3):263-9. doi: 10.1097/GIM.0b013e31820e27b1. Review. PubMed PMID: 21317656.

Zadeh N, Bernstein JA, Stiasny D, Callaghan MU, Flores CE, Tytko JM, Mannarino FP, Moore J. Index of suspicion. Pediatr Rev. 2010 Apr;31(4):167-72. doi: 10.1542/pir.31-4-167. PubMed PMID: 20360413.

Fukushima T, Berumen M, Vargas N, Zadeh N, Hon EH. The effects of cardiovascular dynamics monitoring in the outpatient management of pregnancy hypertension. Am J Obstet Gynecol. 2002 Jun;186(6):1207-13; discussion 1213-5. PubMed PMID: 12066100.

Books and Chapters

Zadeh N, Hudgins L. Human Malformations and Related Anomalies. 3rd ed. Stevenson RE, Hall JG, Everman DR, Solomon BD, editors. New York: Oxford University Press; 2015. Chapter 3 and 4, Pectoral and Pelvic Girdles; Spine and Ribs1024p.

Zadeh N. Neonatology. 1 ed. Sunshine P, Stevenson D, Cohen R, editors. New York: McGraw-Hill Education/Medical; 2015. Common Dysmorphic Syndromes1408p.

Zadeh N. Duane’s Ophthalmology. 2013 Edition ed. Tasman W, Jaeger EA, editors. New York: LWW; 2013. The Phakomatoses.

Meeting Abstracts

Sutherland T, Zadeh N, Southern Reh C. Genetic findings in a subject with type 1 diabetes mellitus and congenital adrenal hyperplasia. Endocrine Society Meeting; 2015 March; San Diego, CA, USA. c 00 .

Zadeh N, Nicholls A, Kaplan LJ, Zadeh T. Patient with SMC1A partial gene deletion without facial features of Cornelia de Lange syndrome. David W. Smith Workshop on Malformations; 2013 September; Mont Tremblant, Quebec, Canada. c 00 .

Brennan M, Adam MP, Seaver LH, Myers A, Zadeh N, et al. Increased body mass during infancy and toddlerhood in Angelman syndrome patients with uniparental disomy and imprinting center changes. David W Smith Workshop on Malformations; 2012 September; c 00

Zadeh N, Zadeh T. Two patients with similar 8p23.1 deletions and differing phenotypes: case report and review of the medical literature. David W. Smith Workshop on Malformations; 2011 September; Los Angeles, CA, USA. c 00

Zadeh N, Casson-Parkin S, Lachman R, Manning M, Bernstein J. Variable expressivity of spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) in a multiplex family.. David W Smith Workshop on Malformations; 2010; Union, WA, USA. c 00 .

Zadeh N, Zadeh T, Manning M. Abnormal methylation of LIT1 in female monozygotic twins discordant for Beckwith-Wiedemann syndrome. WSPR; 2010; Carmel, CA, USA. c 00

Zadeh N, Hudgins L, Norton ME. Nuchal translucency measurements in fetuses with spinal muscular atrophy. American College of Medical Genetics; 2010; Albuquerque, NM. c 00

Zadeh N, Sureka D, Slattery L, Hudgins L. Otocephaly and heterotaxy; possible mechanisms. David W. Smith Workshop on Malformations; 2009; Philadelphia, PA, USA. c 00 .

Zadeh N, Kwan A, Hudgins L. Morphological features in Netherton syndrome. WSPR; 2009; Carmel, CA, USA. c 00
Cusmano-Ozog K, Moore T, Niemi A, Zadeh N, Cowan T, et al. Evidence of redox imbalance in a patient with methylmalonic academy (mut0). SIMD; 2010; c 00 .

Bernstein J, Merker J, Zadeh N, Cherry A. Identification of a 2 MB deletion within 15q14 by oligonucleotide array CGH narrows the cleft palate critical region at this locus. American College of Medical Genetics; 2009; c 00

  • Neda Zadeh MD
    • Appointments:
    • Office: 714-288-3500
    • Specialty: Genetics
    • Board Certified: Clinical Genetics, Clinical Molecular Genetics, Pediatrics
    • Additional Languages: Spanish
    • On Staff at: CHOC Hospital in Orange


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Neonatal Palliative Care Education Symposium

2nd Annual Neonatal Palliative Care Education Symposium recorded on Friday, Oct. 9, 2015 at CHOC Hospital, Orange County CA.

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Medical genetics involves the study of inherited diseases. The field includes genetic counseling and testing, and their application to patient care in the practice of medicine.