Recessive Chondrodysplasia Punctata 1 Overview

Save information for later
Sign Up

Learn About Recessive Chondrodysplasia Punctata 1

What is the definition of Recessive Chondrodysplasia Punctata 1?
Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses. Additional common features of CDPX1 are shortened fingers and a flattened nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays. CDPX1 is caused by genetic changes in the ARSE gene, which is located on the X chromosome. This condition is inherited in an X-linked recessive manner and occurs almost exclusively in males.
What are the alternative names for Recessive Chondrodysplasia Punctata 1?
  • Chondrodysplasia punctata 1, X-linked recessive
  • Arylsulfatase E deficiency
  • CDPX1
  • CPXR
  • Chondrodysplasia punctata 1 X-linked recessive
  • Chondrodysplasia punctata brachytelephalangic
  • Chondrodysplasia punctata, brachytelephalangic
Who are the top Recessive Chondrodysplasia Punctata 1 Local Doctors?
Experienced in Recessive Chondrodysplasia Punctata 1
Dr. John Frino
Orthopedics
Experienced in Recessive Chondrodysplasia Punctata 1
Dr. John Frino
Orthopedics
Medical Center Blvd, 
Winston Salem, NC 
336-716-2255
Languages Spoken:
English
See accepted insurances
Accepting New Patients

John Frino is an Orthopedics provider in Winston Salem, North Carolina. Dr. Frino is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Scoliosis, Knock Knees, Clubfoot, Caudal Regression Syndrome, and Hip Replacement. Dr. Frino is currently accepting new patients.

Experienced in Recessive Chondrodysplasia Punctata 1
Dr. William K. Jones
Pediatrics
Experienced in Recessive Chondrodysplasia Punctata 1
Dr. William K. Jones
Pediatrics
800 N A St, 
Easley, SC 
864-855-0001
Languages Spoken:
English
See accepted insurances
Accepting New Patients

William Jones is a Pediatrics provider in Easley, South Carolina. Dr. Jones is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Recessive Chondrodysplasia Punctata 1, Chondrodysplasia Punctata with Steroid Sulfatase Deficiency, Atypical Hemolytic Uremic Syndrome (aHUS), and Delayed Growth. Dr. Jones is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Advanced in Recessive Chondrodysplasia Punctata 1
Dr. William G. Mackenzie
Pediatric Orthopedics | Orthopedics
Advanced in Recessive Chondrodysplasia Punctata 1
Dr. William G. Mackenzie
Pediatric Orthopedics | Orthopedics
1600 Rockland Rd, 
Wilmington, DE 
302-651-4200
Languages Spoken:
English
See accepted insurances
Accepting New Patients

William Mackenzie is a Pediatric Orthopedics specialist and an Orthopedics provider in Wilmington, Delaware. Dr. Mackenzie is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Hunter Thompson Type, Metatropic Dysplasia, and Desbuquois Syndrome. Dr. Mackenzie is currently accepting new patients.

View All Doctors
What are the latest Recessive Chondrodysplasia Punctata 1 Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

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