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]

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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.