Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 15-12-2012
Symbol FFDD2
Location 2q37.3
Name focal facial dermal dysplasia 2
Other name(s) Brauer-Setleis syndrome
Corresponding gene TWIST2
Main clinical features
  • bitemporal 'scars,' sparse lateral eyebrows, bulbous nose tip, thick lips, micrognathia, chin crease
  • imperforate anus and rectocutaneous fistula, bilateral megaureters, hypotonia, growth and developmental delay
  • Genetic determination autosomal dominant
    Function/system disorder dermatology
    mental retardation
    digestive tract/gastrointestinal
    Type disease