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GENATLAS PHENOTYPE
last update : 13-02-2009
Symbol TPT
Location 7q36.3
Name triphalangeal thumb-polysyndactyly syndrome
Corresponding gene SHH
Other symbol(s) TPTNO, TPTPS
Main clinical features
  • duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger.
  • Genetic determination autosomal dominant
    Related entries . including syndactyly type IV ( characterised by complete cutaneous syndactyly of all fingers, often accompanied by polydactyly) (Sun 2008)
    Function/system disorder osteo-articular
    Type malformation
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     point mutation in the limb specific SHH regulator element ZRS
    duplication     microduplication of 588,819 bp comprising the SHH
    Remark(s) A locus has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423