Absent thumb-short stature-immunodeficiency syndrome

Engelsk navn: Absent thumb-short stature-immunodeficiency syndrome


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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