Chondrodysplasia Punctata SyndromeSymptoms, Doctors, Treatments, Advances & More
Chondrodysplasia Punctata Syndrome Overview
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 practicing medicine in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Wedad Fallatah is a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Fallatah is rated as an Elite provider by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, Achondrogenesis, and Acromesomelic Dysplasia.
Erminia Di Pietro practices practicing medicine in Montreal, Canada. Ms. Di Pietro is rated as an Elite expert by MediFind in the treatment of Chondrodysplasia Punctata Syndrome. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Zellweger Syndrome, X-Linked Chondrodysplasia Punctata 2, Chondrodysplasia Punctata Syndrome, and Achondrogenesis.
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