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GENATLAS PHENOTYPE
last update : 18-12-2018
Symbol FACFB
Location 3p25.1
Name fibular agenesis/ hypoplasia, clubfeet, brachydactyly
Other name(s) Santos syndrome
Corresponding gene WNT7A
Other symbol(s) SS
Main clinical features
  • short stature due to fibular agenesis or hypoplasia, clubfeet with oligodactyly, acromial dimples, motion limitations of the forearms and/or hands, and severe nail hypoplasia or anonychia that was sometimes associated with brachydactyly, and occasional pre-axial polydactyly
  • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type malformation
    Remark(s)