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References OMIM Gene GeneReviews HGMD HGNC
last update : 26-08-2010
Symbol FFDD3
Location 2q37.3
Name focal facial dermal dysplasia 3
Other name(s) Setleis syndrome
Corresponding gene TWIST2
Main clinical features
  • bilateral temporal marks and additional facial features, including an aged-leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and other nonfacial manifestations
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Remark(s) . homozygous nonsense mutations that affect TWIST2 protein stability and DNA binding, (Tukel 2010)
  • C-terminal domain of TWIST2, which is missing in the Q119X mutant form of TWIST2, is responsible for proper transactivation of the periostin gene, and improper regulation of periostin by the mutant form of TWIST2 could help explain some of the soft tissue abnormalities seen in the patients (PMID: 21801849))