ORPHA:1830

Schimke immuno-osseous dysplasia

Also called Schimke syndrome, Spondyloepiphyseal dysplasia-nephrotic syndrome

Body system

Bone diseases

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:1830 is classified under "Bone diseases" in the Orphanet nomenclature.