ORPHA:93282

Spondyloepimetaphyseal dysplasia, PAPSS2 type

Also called Spondyloepimetaphyseal dysplasia, Pakistani type

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:93282 is classified under "Bone diseases" in the Orphanet nomenclature.