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

Summary

Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1, B4GALT7
    Summary: beta-1,4-galactosyltransferase 7

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