Recessive Chondrodysplasia Punctata 1
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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?
Advanced in Recessive Chondrodysplasia Punctata 1
Pediatric Pulmonology
Advanced in Recessive Chondrodysplasia Punctata 1
Pediatric Pulmonology
1201 West La Veta Avenue, 
Orange, CA 
Languages Spoken:
English
Accepting New Patients

Pornchai Tirakitsoontorn is a Pediatric Pulmonologist in Orange, California. Dr. Tirakitsoontorn is rated as an Advanced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Hypochondrogenesis, Cystic Fibrosis, Congenital Unilateral Pulmonary Hypoplasia, and Asthma. Dr. Tirakitsoontorn is currently accepting new patients.

Nancy Yeh
Experienced in Recessive Chondrodysplasia Punctata 1
Pediatrics
Experienced in Recessive Chondrodysplasia Punctata 1
Pediatrics

Kennedy Krieger Institute

Baltimore, MD 
Languages Spoken:
English

Dr. Nancy Yeh is a pediatric physiatrist and the medical director of the Inpatient Rehabilitation Unit at Kennedy Krieger Institute. Dr. Yeh is also an assistant professor of Physical Medicine and Rehabilitation at The Johns Hopkins University School of Medicine. Dr. Yeh received a bachelor’s of science degree from Rice University in Houston, Texas and medical degree from St. George’s University School of Medicine. She completed a residency in physical medicine and rehabilitation at Northwell Health in New York. Following residency, she completed a fellowship in pediatric rehabilitation medicine at Kennedy Krieger Institute and Johns Hopkins University School of Medicine in 2017 and later that year joined the faculty. Selected Publications Yeh, N., Slomine, B.S., Paasch, V. et al. Rehabilitation in Children with Disorder of Consciousness. Curr Phys Med Rehabil Rep 7, 94–103 (2019). Dr. Yeh is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. Her top areas of expertise are Cerebral Palsy, Spastic Diplegia Infantile Type, Encephalitis, and Recessive Chondrodysplasia Punctata 1.

 
 
 
 
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Gregory S. Matthews
Experienced in Recessive Chondrodysplasia Punctata 1
Experienced in Recessive Chondrodysplasia Punctata 1

Prisma Health Imaging Center–Greenville

21 Orchard Park Drive, Suite A, 
Greenville, SC 
Languages Spoken:
English

Gregory Matthews is a Radiologist in Greenville, South Carolina. Dr. Matthews is rated as an Experienced provider by MediFind in the treatment of Recessive Chondrodysplasia Punctata 1. His top areas of expertise are Scoliosis, Spondylocarpotarsal Synostosis Syndrome, Caudal Regression Syndrome, and Knock Knees.

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