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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-03-2012
Symbol CSSSCA2
Location 9p24.3
Name Coffin-Siris syndrome
Other name(s) fifth digit syndrome
Corresponding gene SMARCA2
Other symbol(s) SCC
Main clinical features
  • mild to severe mental retardation, hypoplastic fifth fingers and nails, hirsutism with sparse scalp hair and coarse facial features (thick eyebrows, flat nasal bridge, anteverted and wide nasal tip), agenesis of corpus callosum
  • PMID: 22426308
  • Genetic determination autosomal dominant
    Function/system disorder
    Type MCA/MR
    Gene product
    Name component of the SWI/SNF syndrome