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last update : 21-08-2010
Symbol ODPF
Location Xq27.3-q28
Name terminous osseous dysplasia and pigmentary defect
Other name(s)
  • osseous dysplasia, digital, with facial pigmentary defects and multiple frenula
  • OPDF syndrome
  • Corresponding gene FLNA
    Other symbol(s) ODPD, TODPD
    Main clinical features
  • brachymesophalangia, facial pigmentary dysplasia, multiple frenula, metacarpal and metatarsal disorganization in females X-linked dominant
  • characterized by terminal skeletal dysplasia, pigmentary defects of the skin, and recurrent digital fibromata during infancy
  • Genetic determination sex linked
    Function/system disorder limbs
    Type disease
    Remark(s) . a unique variant, c.5217G>A (p.Val1724_Thr1739del), affect splicing, and it causes a deletion of 16 amino acids at the protein level (Sun 2010)