Absent thumb-short stature-immunodeficiency syndrome

Orpha code: 2951OMIM code: 274190

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
2951
OMIM code
274190
ICD10 code
D82.8
ICD11 code
4A01.1Y

No additional description.

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