Recessive Chondrodysplasia Punctata 1
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Recessive Chondrodysplasia Punctata 1 Overview

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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?
Advanced in Recessive Chondrodysplasia Punctata 1
Dr. Jing Chen
Pediatric Hematology Oncology
Advanced in Recessive Chondrodysplasia Punctata 1
Dr. Jing Chen
Pediatric Hematology Oncology
Referral may be required

Hackensack University Medical Center

30 Prospect Avenue, Pediatric Blood And Marrow Transplant, 
Hackensack, NJ 
551-996-5437
Languages Spoken:
English
See accepted insurances

Jing Chen is a Pediatric Hematologist Oncology provider practicing medicine in Hackensack, New Jersey. Dr. Chen is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. She is also highly rated in 66 other conditions, according to our data. Her clinical expertise encompasses Leukemia, Teratoma of the Mediastinum, Hypochondroplasia, Bone Marrow Transplant, and Endoscopy. Dr. Chen is board certified in American Board Of Pediatrics.

Advanced in Recessive Chondrodysplasia Punctata 1
Dr. Pornchai Tirakitsoontorn
Pediatric Pulmonology
Advanced in Recessive Chondrodysplasia Punctata 1
Dr. Pornchai Tirakitsoontorn
Pediatric Pulmonology
Referral may be required
1201 West La Veta Avenue, 
Orange, CA 
888-770-2462
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Pornchai Tirakitsoontorn is a Pediatric Pulmonologist practicing medicine in Orange, California. Dr. Tirakitsoontorn is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Hypochondrogenesis, Cystic Fibrosis, Congenital Unilateral Pulmonary Hypoplasia, and Asthma. Dr. Tirakitsoontorn is currently accepting new patients.

 
 
 
 
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Experienced in Recessive Chondrodysplasia Punctata 1
Experienced in Recessive Chondrodysplasia Punctata 1
Referral may be required

Prisma Health Imaging Center–Greenville

21 Orchard Park Drive, Suite A, 
Greenville, SC 
864-522-6370
Languages Spoken:
English
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Gregory Matthews is a Radiologist practicing medicine in Greenville, South Carolina. Dr. Matthews is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Scoliosis, Caudal Regression Syndrome, Spondylocarpotarsal Synostosis Syndrome, and Knock Knees. Dr. Matthews is board certified in American Board Of Radiology.

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