Schimke syndrome is a rare autosomal recessive disorder. It was first described in 1971 by Schimke, whose name the condition carries. Most people with the disorder are diagnosed at around age six, and testing for mutations in the SMARCAL1 gene can confirm the diagnosis. The exact prevalence is unknown, but the article reports that it occurs in about one in one million to one in three million people in North America. The source article is very short and does not set out the full clinical picture, so further detail on signs, course and management remains to be added from other sources.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Transmission Route First Described Prevalence Band Causative Agent
Causative Agent (category) Sources
1. Orphadata (Orphanet): Orphadata cross-references for ORPHA:1830 Schimke syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q77.7", "Source": "ICD-10"
2. Schimke syndrome (Wikipedia)
Lead
The disorder was first described in 1971 by Schimke.
Lead [disease-category]
Schimke syndrome is a rare autosomal recessive disorder.
View the Source3. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:1830 Schimke immuno-osseous dysplasia
Orphadata (Orphanet)Prevalence, WorldwideQuote, Prevalence, Worldwide
"PrevalenceClass": "\u003c1 / 1 000 000", "PrevalenceGeographic": "Worldwide"
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