ORPHA:157965

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

Also called SCD-EDS, SLC39A13-related spEDS, SLC39A13-related spondylodysplastic EDS, Spondylocheirodysplastic Ehlers-Danlos syndrome, spEDS-SLC39A13

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:157965 is classified under "Bone diseases" in the Orphanet nomenclature.