Rhizomelic Syndrome Overview
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.
Johns Hopkins University
Julie Hoover-Fong is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Hoover-Fong and 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, Myringotomy, and Adenoidectomy. Dr. Hoover-Fong is currently accepting new patients.
Nancy Braverman is a Pediatrics specialist and a Medical Genetics provider in Baltimore, Maryland. Dr. Braverman and 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.
Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober and 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 Myringotomy. Dr. Bober is currently accepting new patients.
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.