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Absent thumb - short stature - immunodeficiency

ORPHA2951
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Infancy
Neonatal
ICD-10
  • D82.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is characterised by thumb aplasia, short stature with skeletal abnormalities, and severe combined immunodeficiency. It has been 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. Additional features included delayed puberty and anosmia. A septal defect was reported in one of the kindred. The syndrome is transmitted as an autosomal recessive trait.


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