Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

Disease Export to PDF
Name:
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Description:
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.
ORPHAcode:
436144
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14