For a better experience, click the Compatibility Mode icon above to turn off Compatibility Mode, which is only for viewing older websites.

Philip F. Giampietro

Philip F. Giampietro, MD, PhD


Department: Pediatrics

Specialties: Pediatrics, Medical Genetics


  • BS in Biological Sciences - State University of New York, Stony Brook (1978)
  • PhD in Biomedical Sciences - City University of New York, Mt. Sinai School of Medicine (1983)
  • MD - State University of New York, Stony Brook (1986)

Awards & Honors

  • "Heart of the Matter Award," National Marfan Foundation, for promoting education and awareness of Marfan syndrome (2012)

Memberships / Professional Affiliations

  • American Society of Human Genetics 
  • American College of Medical Genetics
  • Society for Pediatric Research
  • American Pediatric Society
  • NYMAC (New York-Mid Atlantic Coalition for Genetics and Newborn Screening Services) Advisory Council

Philip F. Giampietro, MD, PhD, is a board-certified pediatrician and medical geneticist at St. Christopher's Hospital for Children, where he is the chief of the Medical Genetics Section. His clinical interests include dysmorphology and birth defects, including the genetics of congenital and idiopathic scoliosis. He specializes in patients with connective tissue conditions such as Marfan, Loeys-Dietz and Ehlers-Danlos syndromes.

Clinical Services

Clinical genetics, Birth defects, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndromes, Neurofibromatosis, Autism, Spinal deformities

Affiliated Hospitals

St. Christopher's Hospital for Children


  • Medical Genetics - Weill Medical College of Cornell University (1992)


  • Pediatrics - State University of New York, Stony Brook University Hospital (1987)
  • Pediatrics - Long Island Jewish Medical Center (1989)

Philip F. Giampietro, MD, PhD, is a professor in the Department of Pediatrics at Drexel University College of Medicine. Throughout his career he has been active in the education of medical students, genetic counseling students, physician assistants, and pediatric residents and fellows.


Dr. Giampietro's research interests include dysmorphology and birth defects, in particular the genetics of congenital and idiopathic scoliosis. He has worked closely with orthopedic surgical colleagues, clinical and molecular geneticists and epidemiologists to better understand genetic and environmental contributions to these conditions.

Currently Dr. Giampietro utilizes whole exome and whole genome sequence analysis to identify candidate genes for congenital scoliosis. Identified sequence variants are currently being tested using animal models (mice, zebrafish) for pathogenicity. His research has been funded by the Scoliosis Research Society and the Orthopedic Research Foundation. Dr. Giampietro also has interests in connective tissue disorders, personalized medicine and syndrome delineation.


Recent Publications

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas
Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA
Am J Med Genet A. 2017 Nov 21. doi: 10.1002/ajmg.a.38550.

Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome
Reynolds KK, Juusola J, Rice GM, Giampietro PF
Am J Med Genet A. 2017 Aug 17. doi: 10.1002/ajmg.a.38379.

Diaphanospondylodysostosis and ischiospinal dysostosis, evidence for one disorder with variable expression in a patient who has survived to age 9 years
Legare JM, Seaborg K, Laffin J, Giampietro PF
Am J Med Genet A. 2017 Aug 17. doi: 10.1002/ajmg.a.38395.

"PhenX measures for phenotyping rare genetic conditions"
Phillips M, Grant T, Giampietro P, Bodurtha J, MPH, Valdez R , Maiese DR, Hendershot T, Terry SF  and  Hamilton CM
Genet Med advance online publication, January 12, 2017; doi:10.1038/gim.2016.19

Progress and perspective of TBX6 gene in congenital vertebral malformations
Chen W, Liu J, Yuan D, Zuo Y, Liu Z, Liu S, Zhu Q, Qiu G, Huang S, Giampietro PF, Zhang F, Wu N, Wu Z
Oncotarget. 2016 Aug 30;7(35):57430-57441. doi: 10.18632/oncotarget.10619. Review

"The Genetic Landscape and Clinical Implications of Vertebral Anomalies in VACTERL syndrome"
Chen Y, Liu Z, Chen J, Zuo Y, Liu S, Chen W, Liu G, Qiu G, Giampietro PF, Wu N, Wu Z
J Med Genet. 2016 Jul;53(7):431-7. doi: 10.1136/jmedgenet-2015-103554. Review.

"Marfan syndrome Patient Experiences as Ascertained Through Postings on Social Media Websites"
Kelleher E, Giampietro PF, Moreno MA
Am J Med Genet A. 2015 Nov;167A(11):2629-34. doi: 10.1002/ajmg.a.37255. Epub 2015 Aug 14.

"Compound Inheritance of TBX6 Rare Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis"
Wu N,  Ming X, Xiao J,  Wu Z ,  Chen X, Shinawi, M, Shen Y,  Yu G , Liu J, Xie H, Gucev ZS, Liu.S , Yang N, Al-Kateb H, Chen J, Zhang J,  Hauser N, Zhang T,   Tasic V,  Liu P,   Su X,  Pan X,  Liu C,  Wang L, Shen J, Shen J,  Chen Y, Ting,  Zhang T,  Zhang J,   Choy KW , Wang J,  Wang Q,   Li S, Zhou, W, Guo J , Wang Y,  Zhang C, Zhao,  An Y , Zhao Y ,  Wang J, Liu Z,  Zuo Y,   Tian Y, Weng X,  Sutton VR,  Wang H,  Ming WH,   Kulkarni S,  Zhong TP, Giampietro PF,  Sally L. Dunwoodie SL, Cheung SW,  Zhang X,  Jin L,  Lupski JR,  Qiu G,  and Feng Zhang F
N Engl J Med. 2015 Jan 22;372(4):341-50

"Novel NTRK1 Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis"
Liu S, Wu N, Liu J, Ming X, Chen J, Pavelec D, Su X, Qui G,  Tian Y, Giampietro PF, Wu Z
J Child Neurol, 0883073814552438, first published on October 14, 2014

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes
Giampietro PF, Armstrong L, Stoddard A, Blank RD, Livingston J, Raggio CL, Rasmussen K, Pickart M, Lorier R, Turner A, Sund S, Sobrera N, Neptune E, Sweetser D, Santiago-Cornier A, Broeckel U
Am J Med Genet A. 2014 Oct 27. doi: 10.1002/ajmg.a.36799.

"Ruptured Posterior Communicating Artery Aneurysm Associated with Aarskog Syndrome"
Cikla U, Giampietro PF, Sadighi A, Baskaya MK
Neurologico-Medico-Chirurgico Case Report Journal 2015  No. 3 p. 85-87

CORR Insights®: "Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?"
Giampietro PF
Invited Editorial, Clin Orthop Relat Res., 2014 472(10):3226-7

A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups
Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group, TSRHC IS Clinical Group, the International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA
J Med Genet. 2014 Jun;51(6):401-6. doi: 10.1136/jmedgenet-2013-102067. Epub 2014 Apr 10

"Heterozygous mutations in the T (brachyury) gene"
Giampietro PF, Raggio CL, Blank RD
Journal of Medical Genetics Feb 20. doi: 10.1136/jmedgenet-2014-102308. [Epub ahead of print]

MECP2 duplication: Possible cause of severe phenotype in females
Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF
Am J Med Genet A. 2014 Jan 23. doi: 10.1002/ajmg.a.36380. [Epub ahead of print]

An Approach to the Identification of Anomalies and Etiologies in Neonates with Identified or Suspected VACTERL (Vertebral Defects, Anal Atresia, Tracheo-Esophageal Fistula with Esophageal Atresia, Cardiac Anomalies, Renal Anomalies, and Limb Anomalies) Association
Solomon BD, Baker LA, Bear KA, Cunningham BK, Giampietro PF, Hadigan C, Hadley DW, Harrison S, Levitt MA, Niforatos N, Paul SM, Raggio C, Reutter H, Warren-Mora N
J Pediatr. 2013 Dec 11. pii: S0022-3476(13)01382-6. doi: 10.1016/j.jpeds.2013.10.086. [Epub ahead of print] No abstract available.

"Novel Mutation in TP63 Associated with Ectrodactyly, Ectodermal Dysplasia and Clefting Syndrome and T cell Lymphopenia"
Giampietro PF, Baker MW, Basehore MJ, Jones JR and Seroogy CM
Am J Med Genet. 2013 Jun;161(6):1432-5

"Analysis of Maternal Risk Factors Associated with Congenital Vertebral Malformations"
Hesemann J, Lauer E, Ziska S, Noonan K,  Nemeth B, Scott-Schwoerer J, McCarty C, Rasmussen K, Sund S, EickhoffJ, Raggio C and Giampietro PF
Spine Mar 2013;38(5):E293-8


Recent Abstracts

"A low-frequency missense variant in SLC39A8 associated with idiopathic scoliosis"
Haller G, McCall K,  Jenkitkasemwong S,  Cruchaga C, Harms M,  Goate A, Morcuende J,  Giampietro P,  Miller NH, Wise C,  Knutson M,  Dobbs MB and Gurnett CA
Platform Presentation, American Society of Human Genetics 2017

"Approaches to Understanding the Genetics of Vertebral Malformations"
Giampietro P, Broeckel U, Blank R, Raggio C and Pickart M    
Philadelphia Spine Research Symposium 2016 (Poster)

"Prenatal Presentation of Mabry Syndrome with Congenital Diaphragmatic Hernia and Phenotypic Overlap with Fryns Syndrome"
Giampietro P, Reynolds K, Rice G and Juusola J
David Smith Workshop on Malformations and Morphogenesis 2016 (Poster)

"Genetic Contributions to Early Onset Scoliosis"
Giampietro P, Raggio C,Stephan M, Broeckel U and  Blank R
David Smith Workshop on Malformations and Morphogenesis 2014 (Poster)

"NTF3 as a Modifier of Bracing in Adolescent Idiopathic Scoliosis"
Giampietro P,  Stoddard A,  Wang S, Kandice Swindle K, Raggio C,  Hadley Miller N, Blank R, Sund S,  Aggarwal P,  and  Broeckel U
Pediatric Academic Societies Meeting 2014 (Poster Symposium)

"Marfan  Syndrome and Social Media: Symptoms, Support and Cenebrities"
Kelleher E, Giampietro PF and Moreno MA
Pediatric Academic Societies Meeting 2014 (Poster)

Recent State and Regional Presentations

“Ambiguous Genitalia in a Newborn”
St. Christopher’s Hospital for Children, Pediatric Grand Rounds, November 17, 2017

“Genetic Testing in the Orthopedics Clinic”
Shriners’ Hospital for Children, Medical Staff  Lecture, September 13, 2017

“Genetic Testing in the Clinic"
St. Christopher’s Hospital for Children, Pediatric Grand Rounds, May 19, 2017

“Hypermobility in Children: From the Benign to the Sublime”
St. Christopher’s Hospital for Children, Pediatric Grand Rounds, January 13, 2017

“8 Day Old Male with Hyperbilirubinemia”
St. Christopher’s Hospital for Children, Pediatric Grand Rounds, December 9, 2016

“Developmental Disabilities”
Special Needs Clinic, December 21, 2016

“Genetic Approaches to Understanding and Treating Neurodevelopmental Disorders and Cognitive Impairment"
June 10, 2016

“Straightening out the Spine: Understanding the Genetic and Environmental Contributions for Congenital Vertebral Malformations” 
Marshfield Clinic Medical Research Foundation, January 15, 2014

Research Nugget: “Neurotrophin 3 as a modifier of Bracing outcome in Idiopathic Scoliosis”
March 7, 2013

Recent National and International Presentations

“Environmental Causes for Congenital Scoliosis and Implications for Primary Prevention”
Shriners Hospital, Philadelphia, Pennsylvania, December 8,  2016

“Understanding Genetic and Environmental  Contributions to Congenital Scoliosis and Vertebral Malformations”
Shriner’s Hospital, Philadelphia, Pennsylvania, August 25, 2016

"Genetic Contributions to Early Onset Scoliosis”
Orthopedic Research Societies Meeting, March 16, 2014

“Straightening out the Spine: Understanding the Genetic and Environmental Contributions for Congenital Vertebral Malformations”
St. Christopher’s Hospital for Children, November 1, 2013

“Identification of a Locus for Adolescent Idiopathic Scoliosis on Chromosome 12p”
Lyon, France, Scoliosis Research Society Annual Meeting and Course (Faculty), September 18, 2013

“Translational Genomics” 
Inova Translational Medicine Research Institute, July 9, 2013

St. Christopher's Hospital for Children is a primary academic campus of Drexel University College of Medicine. Its physicians are non-compensated members of the teaching faculty of Drexel University College of Medicine and its clinical practices are independent of Drexel University.

Contact Information

Practice Office

St. Christopher's Hospital for Children, Section of Clinical Genetics
160 East Erie Avenue
Nelson Pavilion
Philadelphia, PA 19134
Phone: 215.427.4321
Fax: 215.427.8904