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Reed E. Pyeritz, MD, PhD

Reed E. Pyeritz, MD, PhD Physician

William Smilow Professor Professor of Genetics

Dr. Pyeritz is employed by Penn Medicine.

About Dr. Reed E. Pyeritz

Recognized by America's Top Doctors, 2007 - 2010, and 2012 - 2018

Recognized by Best Doctors in America 2005 - 2018

Recognized annually in Philadelphia magazine's Top Docs issue from 2004 to 2019

Patient Satisfaction Ratings

Patient Rating Breakdown

The Patient Satisfaction Rating is an average of all responses to the care provider related questions shown below from our nationally-recognized Press Ganey Patient Satisfaction Survey. Patients that are treated in outpatient or hospital environments may receive different surveys, and the volume of responses will vary by question.

Responses are measured on a scale of 1 to 5 with 5 being the best score.

Comments are submitted by patients and reflect their views and opinions. The comments are not endorsed by and do not necessarily reflect the views of Penn Medicine.

Overall Ratings

Clinical Specialties


  • Medical Genetics

Programs & Centers:

Board Certification:

  • Internal Medicine, 1978
  • Medical Genetics - Clinical Genetics, 1982

Clinical Expertise:

  • 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
  • Abdominal Wall Defect
  • Abnormal Genetic Test Results
  • Achondroplasia
  • Acrocephalosyndactyly
  • Acrodermatitis Enteropathica
  • Aicardi Syndrome
  • Alagille Syndrome
  • Albinism
  • Alpha-1 Antitrypsin Deficiency
  • Alport Syndrome
  • Amino Acidopathy
  • Anal Anomalies
  • Anal Atresia
  • Anal Stenosis
  • Androgen Insensitivity
  • Angelman Syndrome
  • Aniridia
  • Anophthalmia
  • Anterior Segment Dysgenesis
  • Anterior Segment Eye Malformations
  • Arteriovenous Malformations (AVM)
  • Autism
  • Bardet-Biedl Syndrome
  • Barth Syndrome
  • Becker Muscular Dystrophy
  • Beckwith-Wiedemann Syndrome
  • Biopterin Disorders
  • Biotinidase Deficiency
  • Birth Defects and Disorders
  • Blepharophimosis
  • Blood Disorders
  • Bone Diseases
  • Brachydactyly
  • Brca
  • Breast Cancer Genetic Testing
  • Brugada Syndrome
  • Cafe Au Lait Spots
  • Cancer Genetics
  • Cancer Predisposition Syndromes
  • Cardiac Genetics
  • Cardiofaciocutaneous Syndrome
  • Cardiomyopathy
  • Carnitine Deficiency
  • Cataracts
  • Cerebellar Anomaly
  • Cerebral Anomaly
  • Cerebral Palsy (CP)
  • Charcot Marie Tooth Disease (CMT)
  • Childhood Obesity
  • Chondrodysplasia Punctata
  • Chromosomal Microarray Analysis
  • Chromosome Aberration
  • Chromosome Deletion
  • Chromosome Duplication
  • Chromosome Inversion
  • Chromosome Mosaicism
  • Chromosome Translocation
  • Chronic Granulomatous Disease
  • Chronic Progressive External Ophthalmoplegia
  • Ciliopathy
  • Cleidocranial Dysostosis
  • Coloboma
  • Complex 1 Deficiency
  • Congenital Adrenal Hyperplasia
  • Congenital Anomalies of the Kidney and Urinary Tract
  • Congenital Diaphragmatic Hernia
  • Congenital Disorders of Glycosylation
  • Congenital Esophageal Atresia
  • Congenital Facial Anomalies
  • Congenital Generalized Lipodystrophy
  • Congenital Heart Defects
  • Congenital Limb Defects
  • Connective Tissue Disorders
  • Consanguinity
  • Copy Number Variation
  • Cornelia De Lange Syndrome
  • Costello Syndrome
  • Cryopyrin-Associated Autoinflammatory Syndromes
  • Cutis Aplasia
  • Cystic Fibrosis
  • Dandy-Walker Malformation
  • Deafness
  • Deficiency of Interleukin-1 Receptor Antagonist
  • Developmental Delay
  • Developmental Regression
  • Diabetes
  • Diaphragmatic Hernia
  • DiGeorge Syndrome
  • Dilated Cardiomyopathy
  • DNA Repair-Deficiency Disorders
  • Down Syndrome
  • Duane Syndrome
  • Duchenne Muscular Dystrophy
  • Dup15q Syndrome
  • Dwarfism
  • Dysmorphic Features
  • Dystonia
  • Ear Anomalies
  • Early Osteoporosis
  • Ectodermal Dysplasias
  • Ehlers-Danlos Syndrome
  • Epidermal Nevi
  • Epilepsy
  • Esophageal Atresia
  • Exercise Intolerance
  • Expanded Carrier Genetic Screening
  • Extended Banding Chromosome Studies
  • Facial Asymmetry
  • Facioscapulohumeral Muscular Dystrophy
  • Failure to Thrive
  • Family History of Autism
  • Family History of Cancer
  • Family History of Chromosomal Anomaly
  • Family History of Colon Cancer
  • Family History of Glaucoma
  • Family History of Intellectual Disabilities
  • Fatty Acid Oxidation Defects
  • Fetal Alcohol Syndrome
  • Fetal Growth Restriction
  • Fibrodysplasia Ossificans Progressiva (FOP)
  • Fracture
  • Fragile X Syndrome
  • Fructose 1,6-Bisphosphatase Deficiency
  • Galactokinase Deficiency
  • Galactosemia
  • GAMT Deficiency
  • Gaucher Disease
  • Genetic Counseling
  • Genetic Dystonia
  • Genetic Testing
  • Glaucoma
  • Glaucoma of Childhood
  • Glycogen Storage Disease
  • Gorlin Syndrome
  • Hearing Loss
  • Hemihypertrophy
  • Hemochromatosis
  • Hemoglobinopathies
  • Hemophilia
  • Hepatic Dysfunction
  • Hepatomegaly
  • Hepatosplenomegaly
  • Hereditary Fructose Intolerance
  • Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome)
  • Hereditary Spastic Paraplegia
  • Hermansky-Pudlak Syndrome
  • Heterotaxy Disorders
  • Hirschsprungs Disease
  • Holoprosencephaly
  • Homocystinuria
  • Hunter Syndrome
  • Hurler Syndrome
  • Hydrocephalus
  • Hyperammonemia
  • Hypermobility Syndrome
  • Hyperpigmentation
  • Hypertrophic Cardiomyopathy
  • Hypoglycemia
  • Hypomelanotic Skin Disorders
  • Hypopigmentation
  • Hypospadias
  • Hypotonia
  • Immunologic Deficiency Disorders
  • Inborn Errors of Metabolism
  • Incontinentia Pigmenti
  • Infertility
  • Inherited Genetic Disorders
  • Intellectual Disability
  • Intestinal Atresia
  • Joubert Syndrome
  • Kearns-Sayre Syndrome
  • Ketosis
  • Kidney Dysplasia
  • Kidney Polycystic Diseases
  • Klinefelter Syndrome
  • Klippel-Trenaunay Syndrome
  • Lab Abnormalities
  • Large for Gestational Age
  • Learning Disability
  • Learning Disorders
  • Leber Congenital Amaurosis (LCA)
  • Leber Hereditary Optic Neuropathy
  • Leg Swelling (Edema)
  • Leigh's Disease
  • Lesch-Nyhan Syndrome
  • Leukodystrophy
  • Li-Fraumeni Syndrome
  • Limb Asymmetry
  • Limb-Girdle Muscular Dystrophy
  • Lissencephaly
  • Liver Cirrhosis
  • Long QT Syndrome
  • Lysosomal Diseases
  • Macrocephaly
  • Macroglossia
  • Marfan Syndrome
  • Maroteaux-Lamy Syndrome
  • Maturity-Onset Diabetes of the Young
  • Meckel-Gruber Syndrome
  • MELAS Syndrome
  • Metabolic Acidosis
  • Metabolic Disorders (Inherited)
  • Microcephaly
  • Micrognathia
  • Microphthalmos
  • Mitochondrial Neurogastrointestinal Encephalopathy Disease
  • Monosomy
  • Morquio-Brailsford Syndrome
  • MTHFR Mutation
  • Mucolipidoses
  • Mucopolysaccharidosis
  • Multiple Congenital Anomalies and Birth Defects
  • Muscular Dystrophy
  • Myoclonic Epilepsy with Ragged-Red Fibers
  • Myotonic Dystrophy
  • Nasal Anomalies
  • Neonatal Adrenoleukodystrophy
  • Neural Tube Defect Screening
  • Neurofibromatosis
  • Neuronal Ceroid Lipofuscinoses
  • Neuronal Migration Disorders
  • Neuropathy
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
  • Neurotransmitter Abnormalities
  • Noonan Syndrome
  • Noonan With Lentigines
  • Nystagmus
  • Obesity
  • Ocular Hypertelorism
  • Oligosaccharides Syndrome
  • Optic Nerve Hypoplasia
  • Organic Aciduria Metabolism Disorders
  • Ornithine Transcarbamylase Deficiency
  • Osteogenesis Imperfecta
  • Osteoporosis
  • Overgrowth Syndrome
  • Paramyotonia Congenita
  • Parkes Weber Syndrome
  • Pearson Syndrome
  • Pediatric Cancer
  • Pediatric Cancer Predisposition
  • Periventricular Heterotopia
  • Peroxisomal Disorders
  • Peutz-Jeghers Syndrome
  • Phenylketonuria
  • Pierre Robin Sequence
  • Plagiocephaly
  • Poikiloderma
  • Poland Syndrome
  • Polydactyly
  • Porphyria
  • Port Wine
  • Prader-Willi Syndrome
  • Preconception Counseling
  • Prenatal Genetic Counseling
  • Preventive Medicine
  • Proteus Syndrome
  • Pyridoxine Abnormalities
  • Pyruvate Carboxylase Deficiency
  • Pyruvate Dehydrogenase Complex Deficiency
  • Radial Ray Defects
  • Rash
  • Rasopathy
  • Recurrent Infections
  • Recurrent Miscarriage
  • Renal Agenesis and Dysgenesis
  • Renal Anomalies
  • Renal Tract Abnormalities
  • Retinal Dysplasia
  • Retinitis Pigmentosa
  • Rett Syndrome
  • Robertsonian Translocation
  • Rubinstein-Taybi Syndrome
  • San Filippo Syndrome
  • SCN1A-Related Seizures Disorders
  • Second Opinion Service
  • Shwachman-Diamond Syndrome
  • Skeletal Disorders
  • Skin Disorders
  • Skin Pigmentation Disorders
  • Sly Syndrome
  • Small for Gestational Age
  • Smith-Lemli-Opitz Syndrome
  • Speech Delay
  • Sphingolipidoses
  • Spinal Muscular Atrophy
  • Splenomegaly
  • Stickler Syndrome
  • Submicroscopic Deletion
  • Submicroscopic Duplication
  • Succinic Semialdehyde Dehydrogenase Deficiency
  • Supernumerary Marker Chromosome
  • Syndactyly
  • Tay Sachs
  • Thumb Hypoplasia
  • Trimethylaminuria
  • Triple X Syndrome
  • Trisomy
  • Trisomy 13
  • Trisomy 18
  • Tuberous Sclerosis
  • Turner Syndrome
  • UDP Galactose Epimerase Deficiency
  • Undiagnosed Diseases
  • Undiagnosed Syndromes
  • Unusual Odor
  • Urea Cycle Defects
  • Ventriculomegaly
  • Williams Syndrome
  • Wilson's Disease
Show All Expertise

Practice Locations and Appointments

Insurance Accepted

  • Aetna US Healthcare
  • Amerihealth Caritas
  • Amerihealth Caritas Medicare
  • Cigna
  • Cigna HealthSpring
  • Clover Health Plan
  • CVS Health
  • Devon Health Services (Americare)
  • eLAP Services
  • Gateway Health Plan
  • Geisinger Health Plan
  • HealthAmerica / HealthAssurance, a Coventry Plan
  • HealthPartners
  • HealthPartners Medicare
  • HealthSmart
  • Highmark Blue Shield
  • Homestead Smart Health Plans
  • Horizon Blue Cross Blue Shield of New Jersey
  • Humana / Choicecare
  • Independence Blue Cross (Keystone East)
  • Intergroup
  • Keystone First
  • Keystone First Medicare
  • Multiplan
  • NJ Medicaid
  • NJ Qualcare
  • Oxford Health Plan
  • PA Health and Wellness (Centene) Medicare
  • PA Medicaid
  • PA Medicare
  • Preferred Health Care/LGH
  • Provider Partners Health Plan
  • Rail Road Medicare / Palmetto GBA
  • Remedy Partners at Penn Medicine
  • Tricare
  • United Healthcare
  • UnitedHealthcare Community Plan
  • US Family Health Plan
  • Veterans Choice Program

Education and Training

Medical School: Harvard University
Residency: Peter Bent Brigham Hospital
Fellowship: Johns Hopkins Hospital


American Association for the Advancement of Science, National American Board of Medical Genetics, National American College of Medical Genetics Foundation, National American College of Medical Genetics, National American College of Physicians, National American Federation for Medical Research, National American Medical Association, National American Society for Clinical Investigation, National American Society of Human Genetics, National Association of American Physicians, National Association of Professors of Human and Medical Genetics, National Canadian Marfan Association, International Center for Disease Control and Prevention, National Food and Drug Administration, National Hereditary Hemorrhagic Telangiectasia Foundation International, International National Cancer Institute, National National Marfan Foundation, National National Neurofibromatosis Foundation, National National Organization for Rare Disorders, National National Surgical Adjuvant Breast and Bowel Project, National New York State Health Department, Local Office of Technology Assessment, National Osteogenesis Imperfecta, National Capital Area, Local Pittsburgh Regional Science & Engineering Fair, Local Robert Wood Johnson Foundation, National The Jackson Laboratory, Local University of Delaware, Local Venezolano de Medicina Interna, National Wayne State University, Center for Molecular Medicine and Genetics, Local

Hospital Affiliation

Dr. Pyeritz is employed by Penn Medicine.

Hospital Privileges:

  • Hospital of the University of Pennsylvania: Has privileges to treat patients in the hospital.
  • Penn Presbyterian Medical Center: Has privileges to treat patients in the hospital.


Description of Research Expertise:

Dr. Pyeritz focuses his research in two areas: Mendelian disorders of the cardiovascular system, especially those involving defects of connective tissue, and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions, diseases in which the aorta and occasionally major arterial branches, gradually enlarge and dissect, leading to early demise if untreated. Current efforts include the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosis and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT).

Selected Publications:

Handisides JC, Hollenbeck-Pringle, Uazark K, Trachtenberg FL, Pemberton VL, Atz TW, Bradley TJ, Capella E, De Nobele S, Groh GK, Hamstra MS, Korsin R, Levine JC, Lindaur B, Liou A, Mac Neal MK, Markham LW, Morrison T, Mussatto KA, Olson AK, Pierpont ME, Pyeritz RE, Radojewski EA, Roman MJ, Sparks EA, Xu M, Lacro RV, for the Pediatric Heart Network Investigators.: Health-related quality of life in children and young adults with Marfan syndrome. J Pediatr 2019;204:250-5. : 2019.

Damrauer SM, Hardie K, Kember RL, Judy R, Birtwell D, Williams H, Rader DJ, Pyeritz RE.: FBN1 Coding Variants and Nonsyndromic Aortic Disease. Circ Genom Precis Med. 2019; Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454. : 2019.

Curnes NR, Desjardins B, Pyeritz RE, Chittams J, Sienko D, Trerotola SO.: Lack of growth of small untreated pulmonary arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. 2019 June 26. pii: S1051-0443(19)30378-1. doi: 10.1016/j.jvir.2019.04.009. : 2019.

Bai HX, Pyeritz RE, Trerotola SO.: Covered stents in the treatment of pulmonary arteriovenous malformations. J Vasc Interv Radiol 2018;29(7):981-5. : 2018.

Wooderchak-Donahue WL, McDonald J, Farrell A, Akay G, Velinder M, Johnson P, VanSant-Webb C, Margraf R, Briggs E, Whitehead KJ, Thomson J, Lin AE, Pyeritz RE, Marth G, Bayrak-Toydemir P.: Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in hereditary haemorrhagic telangiectasia. J Med Genet 2018;Sept 22. pii: jmedgenet-2018-105561 : 2018.

Chick JFB, Reddy SN, Pyeritz RE, Trerotola SO: A survey of pulmonary artery malformation screening, management, and follow-up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence. Cardiovasc Intervent Radiol 2017 Feb 10 doi: 10.1007/s00270-017-1604-6. : 2017.

Siddiqi HK, Bossone E, Pyeritz RE, Eagle KA: Chronobiology of acute aortic syndromes. Heart Failure Clin 2017;13:697-701. PMID: 28865779 : 2017.

Siddiqi HK, Luminais SN, Montgomery D, Bossone E, Dietz H, Evangelista A, Isselbacher E, LeMaire S, Manfredini R, Milewicz D, Nienaber CA, Roman M, Sechtem U, Silberbach M, Eagle KA, Pyeritz RE, on behalf of the GenTAC and IRAD Investigators: Chronobiology of acute aortic dissection in the Marfan syndrome. Am J Cardiol 2017;119(5):785-9. PMID: 28065489 : 2017.

Whitehead KJ, Sautter NB, McWilliams JP, Chakinala MM, Merlo CA, Johnson MH, James M, Everett EM, Clancy MS, Faughnan ME, Oh SP, Olitsky SE, Pyeritz RE, Gossage JR: Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial. JAMA. 316 (9): 943-951,2016.

Roman MJ, Pugh NL, Hendershot TP, Devereux RB, Dietz H, Holmes K, Eagle KA, LeMaire SA, Milewicz DM, Morris SA, Pyeritz RE, Ravekes WJ, Shohet RV, Silberbach M; GenTAC Investigators: Aortic Complications Associated With Pregnancy in Marfan Syndrome: The NHLBI National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC). J Am Heart Assoc 5 : 8,2016.

View all publications

Academic Contact Info

Division of Translational Medicine and Human Genetics
University of Pennsylvania School of Medicine
11-133 Smilow Center for Translational Research, 3400 Civic Center Blvd

Philadelphia, PA 19104-4283
Phone: (215) 662-4740
Patient appointments: 800-789-7366 (PENN)

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