About Rachel C. Lombardo, MD
As a pediatrician specializing in genetics and metabolism, Rachel Lombardo, MD, evaluates and cares for children before and after birth. Her areas of expertise include skeletal dysplasia, fetal care, disorders of sexual development and congenital diarrheal disorders. The opportunity to work with an outstanding team committed to excellence in care before and after birth drew Dr. Lombardo to Phoenix Children's.
Dr. Lombardo's love and fascination with genetics started when she was a child. After earning her medical degree at the University of Texas Medical Branch in Galveston, Texas, she completed a dual residency in pediatrics and medical genetics at Cincinnati Children's Hospital in Cincinnati. Dr. Lombardo also completed additional coursework in diagnosing skeletal dysplasia at the University of Lausanne in Lausanne, Switzerland. She's certified by the American Board of Pediatrics and the American Board of Medical Genetics and Genomics.
Knowing the importance of research to provide families hope through discoveries and advances in care, Dr. Lombardo has contributed to professional journals and has been an invited speaker at professional conferences and meetings.
Dr. Lombardo finds joy in helping families find answers to complex questions and sharing their medical journey with them. She's committed to serving families and their goals with excellent clinical care.
When she's not working, Dr. Lombardo enjoys spending as much time as possible photographing wildlife.
Medical School / Education
University of Texas Medical Branch, Galveston, TX
Residency
(Pediatrics, Medical Genetics) Cincinnati Children's Hospital, Cincinnati, OH
Pediatrics, American Board of Pediatrics
Medical Genetics and Genomics, American Board of Medical Genetics and Genomics
Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Am J Med Genet A. 2019. 179(6): 1010-1014.
Suhrie K, Pajor NM, Ahlfield SK, Dawson DB, Dufendach KR, Kitzmiller JA, Leino D, Lombardo RC, Smolarek TA, Rathbun PA, Whitsett JA, Towe C, Wikenheiser-Brokamp KA. Neonatal lung disease associated with TBX4 mutations. J Pediatr. 2019. 206:286-292.
Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Vergano S. Congenital lumbar hernia- a feature of diabetic embryopathy? Am J Med Genet A. 2018.176(11):2243-2249.
Lombardo RC, Porollo A, Cnota JF, Hopkin RJ. Congenital heart disease and aortic arch variants associated with mutation in PHOX2B. Genet Med. 2018. Dec;20(12) 1538-1543.
Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Mohaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmerman MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eu J Med Genet. 2019
Rating & Reviews
It was a great experience. The provider explained all my questions and concerns. She is very knowledgeable and care about her patients and families. She answered every question I asked and explained very well. She made my day better.
I feel she really cared about what I had to say
We love Dr. Lombardo!
Was a lot more helpful than just being handed a pamphlet for the condition my son has, and everyone I came in contact with was very friendly
Dr. Lombardo is awesome. She has good knowledge on genetics and she know most of the genetic disorders and hopefully she will help families with the child having different syndromes.
Outstanding interaction with my child. I could not ask for better.
Dr is kind and gave us information we needed on our daughter... even helpful in recommendations for other specialists our daughter needs to see
Dr Lombardo was very clear by explaining I was outside the box of my original diagnosis.