Microcephalic primordial dwarfism-insulin resistance syndrome

Disease Export to PDF
Name:
Microcephalic primordial dwarfism-insulin resistance syndrome
Description:
A rare genetic disease characterized by severe pre- and postnatal growth failure with short stature and microcephaly, facial dysmorphism (including a small jaw and prominent midface), severe insulin resistance, fatty liver, and hypertriglyceridemia developing in childhood, and primary gonadal failure. Mild global learning difficulties and acanthosis nigricans have also been reported.
ORPHAcode:
436182
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14