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GENATLAS PHENOTYPE
last update : 23/01/07
Symbol SDTY5
Location 2q31.1
Name syndactyly with metacarpal and metatarsal fusion type 5
Other name(s) syndactyly type 5
Corresponding gene HOXD13
Other symbol(s) SDT5
Main clinical features
  • characteristic finding is the presence of an associated metacarpal and metatarsal fusion
  • most commonly fused are the 4th and 5th or the 3rd and 4th, and soft tissue syndactyly usually affects the 3rd and 4th fingers and the 2nd and 3rd toes
    • Genetic determination autosomal dominant
    Function/system disorder osteo-articular
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    repeat expansion     a duplication of 21 basepairs that expanded the polyalanine repeat from 15 to 22 alanine residues, leading to unability to transactivate the EPHA7 promoter
    Remark(s)