Schimke syndrome explained

Synonym:	Spondyloepiphyseal dysplasia nephrotic syndrome Immunoosseous dysplasia, SIOD Schimke immuno-osseous dysplasia ^[1]

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

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

Diagnosis

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

Tests for mutations in the SMARCAL1 can confirm the diagnosis.

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]

Notes and References

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