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 <i>B4GALT7</i>, <i>B3GALT6</i> or <i>SLC39A13</i>, 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&#8208;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

Prevalence

  • 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.