GTR Home > Conditions/Phenotypes > Ehlers-Danlos syndrome, progeroid type, 2

Summary

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EDSP2, EDSSPD2, SEMDJL1, beta3GalT6, B3GALT6
    Summary: beta-1,3-galactosyltransferase 6

Clinical features

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