Chondrodysplasia Punctata SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Chondrodysplasia Punctata Syndrome
- Chondrodysplasia punctata syndrome
- Chondrodysplasia punctata
- Toriello Higgins Miller syndrome
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 Chondrodysplasia Punctata Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Erminia Di Pietro practices in Montreal, Canada. Ms. Di Pietro is rated as an Elite expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. Her top areas of expertise are X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, Zellweger Syndrome, and Achondrogenesis.
Nemours Children's Hospital, Delaware
Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as a Distinguished provider by MediFind in the treatment of Chondrodysplasia Punctata 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.
Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...
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.
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center