Spondylodysplastic Ehlers-Danlos syndrome

What is Spondylodysplastic Ehlers-Danlos syndrome?

A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), soft, doughy, thin, hyperextensible skin, muscular hypotonia (ranging from congenitally severe to mild with later‐onset), pes planus/equinovarus/valgus and, more variably, osteopenia, delayed cognitive and motor development, and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.

Other condition names

  • Spondylodysplastic EDS
  • spEDS


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.