Ehlers-Danlos syndrome, progeroid type

Ehlers-Danlos syndrome, progeroid type is a form of Ehlers-Danlos Syndrome characterized by a Premature aging with sparse hair, macrocephaly, loose elastic skin, Failure to thrive, Joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

Organ Affected

  • Skin System (Integumentary System)

    • Also Known As

  • Defective biosynthesis of proteodermatan sulfate
  • Galactosyltransferase I deficiency
  • Xylosylprotein 4-beta-galactosyltransferase deficiency

    • 14908 0.604098081589