Schimke Immuno-Osseous Dysplasia
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Schimke Immuno-Osseous Dysplasia Overview

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Learn About Schimke Immuno-Osseous Dysplasia

What is the definition of Schimke Immuno-Osseous Dysplasia?
Schimke immunoosseous dysplasia (SIOD) is a condition that results in short stature, kidney disease (nephropathy), and a weakened immune system. Short stature is due to spondyloepiphyseal dysplasia, which involves abnormal development of the spine and the ends of the long bones. Nearly all people with SIOD have kidney disease. Most people with SIOD also have T-cell deficiency causing an increased risk for infections. SIOD is caused by genetic changes in the SMARCAL1 gene and inheritance is autosomal recessive.
What are the alternative names for Schimke Immuno-Osseous Dysplasia?
  • Schimke immunoosseous dysplasia
  • Immunoosseous dysplasia, Schimke type
  • SIOD
  • Schimke immuno-osseous dysplasia
  • Schimke syndrome
  • Spondyloepiphyseal dysplasia nephrotic syndrome
Who are the top Schimke Immuno-Osseous Dysplasia Local Doctors?
Distinguished in Schimke Immuno-Osseous Dysplasia
Alireza Heravi-Baradaran
Distinguished in Schimke Immuno-Osseous Dysplasia
Alireza Heravi-Baradaran
Vancouver, BC, CA 

Alireza Heravi-Baradaran practices practicing medicine in Vancouver, Canada. Mr. Heravi-Baradaran is rated as a Distinguished expert by MediFind in the treatment of Schimke Immuno-Osseous Dysplasia. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Schimke Immuno-Osseous Dysplasia, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Chondrodystrophy.

Distinguished in Schimke Immuno-Osseous Dysplasia
Arend Bokenkamp
Distinguished in Schimke Immuno-Osseous Dysplasia
Arend Bokenkamp
Amsterdam, NH, NL 

Arend Bokenkamp practices practicing medicine in Amsterdam, Netherlands. Mr. Bokenkamp is rated as a Distinguished expert by MediFind in the treatment of Schimke Immuno-Osseous Dysplasia. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses Schimke Immuno-Osseous Dysplasia, Lowe Syndrome, Dent Disease, Kidney Transplant, and Nephrectomy.

 
 
 
 
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Distinguished in Schimke Immuno-Osseous Dysplasia
Laura Massella
Distinguished in Schimke Immuno-Osseous Dysplasia
Laura Massella
Rome, IT 

Laura Massella practices practicing medicine in Rome, Italy. Ms. Massella is rated as a Distinguished expert by MediFind in the treatment of Schimke Immuno-Osseous Dysplasia. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Alport Syndrome, Schimke Immuno-Osseous Dysplasia, Autosomal Recessive Polycystic Kidney Disease, Nephrotic Syndrome, and Kidney Transplant.

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