Absent thumb-short stature-immunodeficiency syndrome
ORPHA:2951· ICD-10 D82.8
Definition
A rare syndrome with combined immunodeficiency characterized by thumb aplasia, short stature with skeletal abnormalities including unfused olecranon, and combined immunodeficiency manifested with severe chickenpox and chronic candidiasis. Additional clinical features may include flat facies, anosmia, congenital septal defects and delayed puberty. There have been no further descriptions in the literature since 1978.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal