ORPHA:935

Short-limb skeletal dysplasia with severe combined immunodeficiency

Also called Achondroplasia-SCID syndrome, Achondroplasia-Swiss type agammaglobulinemia syndrome, Achondroplasia-severe combined immunodeficiency syndrome, Immunodeficiency-short limb dwarfism syndrome, Short limb skeletal dysplasia with SCID

Body system

Immunological diseases

Inheritance pattern

Not applicable

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:935 is classified under "Immunological diseases" in the Orphanet nomenclature.