Schaaf-Yang syndrome, abbreviated SYS, is a rare genetic disorder caused by a heterozygous mutation in MAGEL2, a gene that is expressed from the copy inherited from the father. The main signs are intellectual disability or developmental delay, autism spectrum disorder, hypogonadism, low muscle tone in infancy with feeding problems, and distal arthrogryposis. Typical facial features include a short nose, dense eyebrows and a protruding jaw.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) Prevalence Band Sources
1. Schaaf-Yang syndrome (Wikipedia)
Lead paragraph 1
intellectual disability/developmental delay, autism spectrum disorder, hypogonadism, hypotonia in infancy
Lead paragraph 1 [causative-agent-category]
is a rare genetic disorder that is caused by a heterozygous mutation in a paternal-expressed gene MAGEL2
Lead
Schaaf-Yang syndrome (SYS) is a rare genetic disorder that is caused by a heterozygous mutation in a paternal-expressed gene
View the Source2. Orphadata (Orphanet): Orphadata cross-references for ORPHA:398069 Schaaf-Yang syndrome
Orphadata (Orphanet)ICD-10 cross-referenceQuote, ICD-10 cross-reference
"Reference": "Q87.1", "Source": "ICD-10"
3. National Cancer Institute (NCI Thesaurus): Schaaf-Yang syndrome - NCI Thesaurus concept C215157
National Cancer Institute (NCI Thesaurus)DefinitionQuote, Definition
An autosomal dominant condition caused by mutation(s) in the MAGEL2 gene, encoding MAGE-like protein 2.
4. Orphadata (Orphanet): Orphadata epidemiology for ORPHA:398069 Schaaf-Yang syndrome
Orphadata (Orphanet)Prevalence, WorldwideQuote, Prevalence, Worldwide
"PrevalenceClass": "\u003c1 / 1 000 000", "PrevalenceGeographic": "Worldwide"
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