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Short fifth metacarpals-insulin resistance syndrome

ORPHA:66518· ICD-10 E34.8

Definition

A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Adolescent