Chondrodysplasia Punctata Syndrome Overview

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Learn About Chondrodysplasia Punctata Syndrome

What is the definition of Chondrodysplasia Punctata Syndrome?
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
What are the alternative names for Chondrodysplasia Punctata Syndrome?
  • Chondrodysplasia punctata syndrome
  • Chondrodysplasia punctata
  • Toriello Higgins Miller syndrome
Who are the top Chondrodysplasia Punctata Syndrome Local Doctors?
Dr. Nancy E. Braverman
Pediatrics | Medical Genetics
Dr. Nancy E. Braverman
Pediatrics | Medical Genetics
601 N Caroline St, 
Baltimore, MD 
410-955-3071
Languages Spoken:
English

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 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
Erminia Di Pietro
Montreal, QC, CA 

Erminia Di Pietro practices in Montreal, Canada. Di Pietro and 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, Achondrogenesis, and Zellweger Syndrome.

 
 
 
 
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Dr. Michael B. Bober
Medical Genetics | Pediatrics
Dr. Michael B. Bober
Medical Genetics | Pediatrics
A.i. Dupont Hospital For Children, 1600 Rockland Road, 
Wilmington, DE 
302-651-4000
Languages Spoken:
English
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Accepting New Patients

Michael Bober is a Medical Genetics specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Bober and 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), Short Stature (Growth Disorders), Osteotomy, and Myringotomy. Dr. Bober is currently accepting new patients.

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What are the latest Chondrodysplasia Punctata Syndrome Clinical Trials?
Rhizomelic Chondrodysplasia Punctata Registry At Nemours Children's Health
Rhizomelic Chondrodysplasia Punctata Registry At Nemours Children's Health
Enrollment Status: Recruiting
Publish Date: October 01, 2024

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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Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
Enrollment Status: Recruiting
Publish Date: October 31, 2023

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...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center