The 20 Best Rubinstein-Taybi Syndrome Doctors in The United States
Find the Top Rubinstein-Taybi Syndrome Experts and Specialists
Berks Community Health Center
. Dr. Patti is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. His clinical expertise encompasses Hypertension, Type 2 Diabetes (T2D), Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Patti is board certified in American Board Of Family Medicine.
ETSU Family Practice - Kingsport
. Dr. Brummel is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. His clinical expertise encompasses Pelvic Floor Dysfunction, Chronic Obstructive Pulmonary Disease (COPD), Type 2 Diabetes (T2D), and Lung Metastases. Dr. Brummel is board certified in American Board Of Family Medicine.
John Muir Physician Network
Juana Gonzalez is a primary care provider, practicing in Internal Medicine in Orinda, California. Dr. Gonzalez is rated as a Distinguished provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses Thrombocytopenia-Absent Radius Syndrome, Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia, Acro-Pectoro-Renal Field Defect, and Klippel-Trenaunay Syndrome.
Abington Pediatrics PC
Richard Lords is a primary care provider, practicing in Internal Medicine in Abington, Massachusetts. Dr. Lords is rated as a Distinguished provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 28 other conditions, according to our data. His clinical expertise encompasses Type 1 Diabetes (T1D), Rubinstein-Taybi Syndrome, Polydactyly Myopia Syndrome, and Thrombocytopenia-Absent Radius Syndrome.
Nemours Children's Hospital, Delaware
Nina Powell is a Medical Genetics provider practicing medicine in Wilmington, Delaware. She has been practicing medicine for over 30 years. Dr. Powell is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 45 other conditions, according to our data. Her clinical expertise encompasses Microcephaly, PIK3CA-Related Overgrowth Spectrum, Chromosome 13q Deletion, and Increased Head Circumference. Dr. Powell is board certified in American Board Of Medical Genetics And Genomics.
Northwell Health Physician Partners Internal Medicine And Age Friendly Care At Oyster Bay
Manpreet Kaur is a primary care provider, practicing in Geriatrics in Oyster Bay, New York. Dr. Kaur is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Ectropion, Ludwig Angina, Acrospiroma, Cataract Removal, and Trabeculectomy. Dr. Kaur is board certified in American Board Of Internal Medicine.
Corewell Health William Beaumont University Hospital Pediatric Genetics
Stephanie Campbell is a Pediatrics provider practicing medicine in Royal Oak, Michigan. She has been practicing medicine for over 10 years. Dr. Campbell is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 3 other conditions, according to our data. Her clinical expertise encompasses Increased Head Circumference, Delayed Growth, Congenital Athymia, and Acromesomelic Dysplasia Campailla Martinelli Type. Dr. Campbell is board certified in American Board Of Pediatrics. Dr. Campbell is currently accepting new patients.
Transitional Care Practice Special Needs
Neal Emery is a primary care provider, practicing in Pediatrics and Internal Medicine in Wilmington, Delaware. Dr. Emery is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Cerebral Palsy, Autism Spectrum Disorder, Down Syndrome, and Sickle Cell Disease.
Medical Genetics In Lawrenceville
Suneeta Madan-Khetarpal, MD, is a clinical geneticist and is certified in clinical genetics, clinical cytogenetics, clinical molecular genetics, clinical medical biochemical genetics, and pediatrics by the American Board of Medical Genetics and Genomics and the American Board of Pediatrics respectively. She is also associate professor of pediatrics, ophthalmology, and human genetics at the Graduate School of Public Health at the University of Pittsburgh School of Medicine. Dr. Madan is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses 1p36 Deletion Syndrome, Micrognathia, Mosaicism, and Miller Syndrome. Dr. Madan is board certified in American Board Of Medical Genetics And Genomics , American Board Of Medical Genetics And Genomics , American Board Of Pediatrics , American Board Of Medical Genetics And Genomics , and American Board Of Medical Genetics And Genomics.
Greenwood Genetic Center– Greenwood
Roger Stevenson is a Medical Genetics provider practicing medicine in Greenwood, South Carolina. Dr. Stevenson is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses VACTERL Association, Micrognathia, Phocomelia, and FG Syndrome. Dr. Stevenson is currently accepting new patients.
Penn Translational Medicine And Human Genetics
Katherine Nathanson is a Medical Genetics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Nathanson is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 14 other conditions, according to our data. His clinical expertise encompasses Cowden Syndrome, Neuroendocrine Tumor, Peutz-Jeghers Syndrome, and Hypothalamic Hamartomas. Dr. Nathanson is board certified in Clinical Genetics And Genomics, 2020. Dr. Nathanson is currently accepting new patients.
Greenwood Genetic Center– Columbia
Eloise Prijoles is a Medical Genetics provider practicing medicine in Columbia, South Carolina. Dr. Prijoles is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Micrognathia, Delayed Growth, Microcephaly, and Autism Spectrum Disorder. Dr. Prijoles is currently accepting new patients.
Howard County Medical Pavilion
Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Epicanthal Folds, Strabismus, Hypotonia, and Brown Syndrome. Dr. Couser is board certified in American Board Of Medical Genetics And Genomics and American Board Of Ophthalmology.
Jessica Gold is a Medical Genetics provider practicing medicine in Great Neck, New York. Dr. Gold is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. Her clinical expertise encompasses Arachnodactyly, Achard Syndrome, Gaucher Disease Type 3, and Gaucher Disease Type 1.
Cohen Children's Northwell Health Physician Partners Medical Genetics
Dr. Ian Daniel Krantz, MD, is a renowned physician specializing in Genetics and Pediatrics. He currently sees patients at Cohen Children's Medical Center (CCMC) and Northwell Health Physician Partners Medical Genetics. Dr. Krantz holds certifications in Clinical Genetics, Cytogenetics, and Pediatrics from the American Board of Medical Genetics and the American Board of Pediatrics, respectively.Dr. Krantz completed his BFA at Concordia University in Montreal and his MD at Sackler School of Medicine (Tel Aviv University). He completed his residency in Medical Genetics at Children's Hospital of Philadelphia and his residency in Pediatrics at New York University Medical Center.With an impressive set of academic and administrative titles, Dr. Krantz serves as the Division Chief of Pediatric Genetics and Genomics at Cohen Children's Medical Center and is the System Vice President for Pediatric Genetics at Northwell Health. Additionally, he holds the position of Professor at the Zucker School of Medicine at Northwell Health.Dr. Krantz is recognized for his clinical expertise in isolated and syndromic forms of congenital birth differences and developmental diagnoses, including syndromic and non-syndromic autism. He has a special interest in the genetics of hearing loss and focused expertise in Cornelia de Lange Syndrome, Pallister-Killian syndrome, Alagille syndrome, CHOPS syndrome, among others.Dr. Krantz's research is dedicated to identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental diagnoses. His research lab has made significant contributions in the field, discovering new disease genes and shedding light on critical molecular pathways involved in human developmental disorders.Driven by his commitment to advancing patient care, Dr. Krantz has been at the forefront of integrating genomic technologies into the clinical setting. He has implemented rapid genome sequencing into the NICU and CICU and established biobanks and biorepositories to further research efforts. Through his work, he aims to understand the impact of complex diagnostic information on clinicians and families involved.With his extensive expertise and dedication to advancing genetic research and patient care, Dr. Krantz continues to make significant contributions to the field of Pediatrics and Genetics. Dr. Krantz is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Cornelia De Lange Syndrome, Pallister-Killian Mosaic Syndrome, Mosaicism, and KBG Syndrome.
Corewell Health Pediatric Hospitalists - Grand Rapids
Eric Kort is a primary care provider, practicing in Pediatrics in Grand Rapids, Michigan. He has been practicing medicine for over 20 years. Dr. Kort is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses H Influenzae Meningitis, Diffuse Panbronchiolitis, ECHO Virus, Pneumococcal Meningitis, and Myringotomy. Dr. Kort is board certified in American Board Of Pediatrics.
Corewell Health Grand Rapids Hospitals Medical Genetics - 25 Michigan St NE
Linda Rossetti is a Pediatrics specialist and a Medical Genetics provider practicing medicine in Grand Rapids, Michigan. She has been practicing medicine for over 10 years. Dr. Rossetti is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 87 other conditions, according to our data. Her clinical expertise encompasses Smith-Magenis Syndrome, Miller-Dieker Syndrome, Chromosome 6q Duplication, and Chromosome 8p Deletion. Dr. Rossetti is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.
Transitional Care Practice Special Needs
Charmaine Wright is a primary care provider, practicing in Internal Medicine and Pediatrics in Wilmington, Delaware. Dr. Wright is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Cerebral Palsy, Sickle Cell Disease, Autism Spectrum Disorder, and Down Syndrome.
Rubenstein Child Health Building
Dr. Julie Hoover-Fong is a Professor of Genetic Medicine and Pediatrics and Director of the Greenberg Center for Skeletal Dysplasias at Johns Hopkins University. Dr. Hoover-Fong holds a bachelor’s degree in Human Nutrition from The Ohio State University, where she also completed her medical degree. She received her Ph.D. in the Graduate Training Program in Clinical Investigation at the Johns Hopkins University School of Medicine and Bloomberg School of Public Health. Dr. Hoover-Fong completed a pediatric internship and residency at Washington University in St. Louis and a fellowship in medical genetics at Johns Hopkins University in Baltimore. She joined the Johns Hopkins University faculty in 2002 and progressed to Professor of Genetic Medicine and Pediatrics in 2019. She practices and oversees the clinical operations, research and educational ventures for the patients, families and healthcare providers served by the Greenberg Center. Her clinical team develops and improves diagnostic and treatment guidelines for comprehensive care of patients with all types of bone conditions including dwarfism, orofacial clefting, craniosynostosis and more. Dr. Hoover-Fong also mentors and teaches medical students, residents and genetic medicine trainees. As an active clinical researcher, Dr. Hoover-Fong is the Principal Investigator of multiple global clinical trials for achondroplasia, the first multi-center, investigator-initiated natural history study for achondroplasia, and multiple clinical studies for patients with orofacial clefting, hypophosphatasia and other conditions. She is also a co-investigator on the ELSI and Phenotype Review Committees for the Mendel Project, a whole exome sequencing venture to identify the genetic cause of Mendelian conditions. From an institutional service perspective, Dr. Hoover-Fong serves on the Johns Hopkins Associate Professor Promotions Committee and the Advisory Committee for the Graduate Training Program in Clinical Investigation. She serves on the Medical Advisory Board of the Little People of America, is a member of the Miller-Coulson Academy of Clinical Excellence at Johns Hopkins University and is a charter member of the International Skeletal Dysplasia Management Consortium, publishing best practice guidelines for patients with skeletal dysplasias. Dr. Hoover is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 26 other conditions, according to our data. Her clinical expertise encompasses Rhizomelic Syndrome, Achondroplasia, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy. Dr. Hoover is board certified in American Board Of Medical Genetics And Genomics.
Geisinger Danville - General Internal Medicine
Dr. Cornacchia is a board-certified internal medicine physician. She attended the University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School, where she earned her medical degree. Dr. Cornacchia completed her residency at Baylor College of Medicine. She is certified by the American Board of Internal Medicine. Dr. Cornacchia is rated as an Experienced provider by MediFind in the treatment of Rubinstein-Taybi Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Down Syndrome, Familial Partial Lipodystrophy, Congenital Generalized Lipodystrophy, and Cerebral Palsy. Dr. Cornacchia is board certified in The American Board Of Internal Medicine. Dr. Cornacchia is currently accepting new patients.
Last Updated: 04/28/2026















