Microcephalic primordial dwarfism-insulin resistance syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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Microcephalic primordial dwarfism-insulin resistance syndrome?
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