Absent thumb-short stature-immunodeficiency syndrome


Engelsk navn: Absent thumb-short stature-immunodeficiency syndrome


Definisjon

An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.

Fra Orphanet

ORPHA: 2951
Klassifiseringsnivå: Disorder
ICD-10: D82.8

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Mer informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.
Søk på Absent thumb-short stature-immunodeficiency syndrome på helsebiblioteket.no


Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)