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References OMIM Gene GeneReviews HGMD HGNC
last update : 01-06-2009
Symbol PSDY2
Location 2q31.1
Name polysyndactyly 2
Other name(s) syndactyly, type II
Corresponding gene HOXD9 , HOXD10 , HOXD11 , HOXD12 , HOXD13 , EVX2
Other symbol(s) SPD, SPD1
Main clinical features
  • contiguous gene syndrome
  • syndactyly between third and fourth fingers and fourth and fifth toes, with variable digit duplication in the syndactylous web, associated metacarpal and metatarsal fusion
  • by severely affected males may have hypospadias - polysyndactyly
  • Genetic determination autosomal dominant
    Related entries . including synpolydactyly type Vordingborg . syndactyly type V (OMIM 186300)
    Function/system disorder osteo-articular
    Type disease
    Gene product
    Name homeo box gene HOXD13 chromosomal deletion encompassing HOXD cluster, 117-Kb microdeletion removing HOXD9-HOXD13 and EVX2
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown disruption of DNA binding or of protein stability
    repeat expansion   other limited duplication of a polyalanine repeat or frameshifting deletions
  • maybe more telomeric than SHFM5
  • G220V substitution does not produce a dominant-negative effect or a gain-of-function, but represents a dominant loss-of-function mutation revealing haploinsufficiency of HOXD13 (Fantini 2009)