Short fifth metacarpals-insulin resistance syndrome

Orpha code: 66518OMIM code:

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.

Disease data
Classification

Disease

ORPHA code
66518
OMIM code
-
ICD10 code
E13
ICD11 code
-

No additional description.

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