Schimke syndrome

Schimke syndrome is a rare autosomal recessive disorder.[2]

Schimke syndrome
Other names
  • Spondyloepiphyseal dysplasia nephrotic syndrome
  • Immunoosseous dysplasia, SIOD
  • Schimke immuno-osseous dysplasia [1]

The disorder was first described in 1971 by Schilmke.[3]

Diagnosis

Most people with this disorder are diagnosed at age 6.[4]

Tests for mutations in the SMARCAL1 can confirm the diagnosis.[5]

Prevalence

The exact prevalence is unknown but is said to occur in 1 in a million births in North America.[5] The disorder is said to occur in 1 in 1 million or 1 in 3 million people in North America.[6]

References
  1. "Schimke immunoosseous dysplasia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program".
  2. Burns, Tony; Breathnach, Stephen M.; Cox, Neil; Griffiths, Christopher (2008-04-15). Rook's Textbook of Dermatology. John Wiley & Sons. p. 39. ISBN 978-1-4051-4104-8.
  3. Sullivan, Kathleen E.; Stiehm, E. Richard (2014-08-08). Stiehm's Immune Deficiencies. Academic Press. p. 185. ISBN 978-0-12-405860-6.
  4. "Schimke Immuno-osseous Dysplasia (SIOD) - Stanford Children's Health". www.stanfordchildrens.org. Retrieved 2021-09-09.
  5. "Schimke Immuno-Osseous Dysplasia". NORD (National Organization for Rare Disorders). Retrieved 2021-09-09.
  6. "Schimke immuno-osseous dysplasia: MedlinePlus Genetics". medlineplus.gov. Retrieved 2021-07-11.


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