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?
Family Medicine
Experienced in Recessive Chondrodysplasia Punctata 1
Family Medicine
7101 Jahnke Rd,
Richmond, VA
Languages Spoken:
English
Accepting New Patients
Nguyen Ngtam is a Family Medicine provider in Richmond, Virginia. Dr. Ngtam and is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Frozen Shoulder, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Familial Hypertension. Dr. Ngtam is currently accepting new patients.
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What are the latest Recessive Chondrodysplasia Punctata 1 Clinical Trials?
Who are the sources who wrote this article ?
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
What are the Latest Advances for Recessive Chondrodysplasia Punctata 1?
A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
Journal: BMC medical genomics
Published: July 16, 2024
Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.
Journal: Prenatal diagnosis
Published: April 04, 2024
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Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.
Journal: Clinical dysmorphology
Published: March 08, 2022