An exceedingly rare autosomal recessive immune disease with characteristics of 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.
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No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
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Designation Type
PHIN Preferred Term Flag
Code Flag
3317483014
Absent thumb with short stature and immunodeficiency syndrome