ORPHA:93358

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome

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:93358 is classified under "Bone diseases" in the Orphanet nomenclature.