Rhizomelic Syndrome Overview

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Learn About Rhizomelic Syndrome

Condition 101 content is not available at this time, but we are continually updating the site. Please check back.

However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.

Who are the top Rhizomelic Syndrome Local Doctors?
Elite in Rhizomelic Syndrome
Pediatrics | Medical Genetics
Elite in Rhizomelic Syndrome
Pediatrics | Medical Genetics

Rubenstein Child Health Building

200 North Wolfe Street, Rubenstein BLDG Lower Level, Rubenstein BLDG Lower Level, 
Baltimore, MD 
Languages Spoken:
English

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 Elite provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Achondroplasia, Rhizomelic Syndrome, Spondyloepimetaphyseal Dysplasia Strudwick Type, Adenoidectomy, and Myringotomy.

Elite in Rhizomelic Syndrome
Medical Genetics | Pediatrics
Elite in Rhizomelic Syndrome
Medical Genetics | Pediatrics
601 N Caroline St, 
Baltimore, MD 
Languages Spoken:
English

Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Rhizomelic Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.

 
 
 
 
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Elite in Rhizomelic Syndrome
Medical Genetics
Elite in Rhizomelic Syndrome
Medical Genetics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
Languages Spoken:
English
Accepting New Patients

Michael Bober is a Medical Genetics provider in Wilmington, Delaware. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Rhizomelic Syndrome. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is currently accepting new patients.

What are the latest Rhizomelic Syndrome Clinical Trials?
Rhizomelic Chondrodysplasia Punctata Registry at Nemours Children's Health

Summary: The goal of this registry is to collect medical information on individuals with rhizomelic chondrodysplasia punctata and closely related conditions. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.

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