Recessive Chondrodysplasia Punctata 1 Overview

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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
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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, Spondylocarpotarsal Synostosis Syndrome, and Hip Replacement. Dr. Frino is currently accepting new patients.

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

The Nemours Foundation

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 Fibrochondrogenesis, Kyphomelic Dysplasia, Mucopolysaccharidoses (MPS), and Kniest Dysplasia. Dr. Mackenzie is currently accepting new patients.

 
 
 
 
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Advanced in Recessive Chondrodysplasia Punctata 1
Dr. Ricki S. Carroll
Hospital Medicine | Pediatrics
Advanced in Recessive Chondrodysplasia Punctata 1
Dr. Ricki S. Carroll
Hospital Medicine | Pediatrics

The Nemours Foundation

1600 Rockland Rd, 
Wilmington, DE 
302-651-4200
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Ricki Carroll is a Hospital Medicine specialist and a Pediatrics provider in Wilmington, Delaware. Dr. Carroll is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Thanatophoric Dysplasia, Spondyloepiphyseal Dysplasia, Diastrophic Dysplasia, Acromicric Dysplasia, and Osteotomy. Dr. Carroll is currently accepting new patients.

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