microcephalic primordial dwarfism-insulin resistance syndrome
ORPHA: 436182
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with microcephalic primordial dwarfism-insulin resistance syndrome, sourced from HPO and Orphanet clinical annotations.
MicrognathiaInsulin-resistant diabetes mellitusHepatic steatosisHypertriglyceridemiaPrimary gonadal insufficiencySevere short-limb dwarfismMalar prominenceRetinal detachmentCongenital blindness
Classification & Codes
Orphanet Code
ORPHA:436182microcephalic primordial dwarfism-insulin resistance syndrome
| Orphanet | ORPHA:436182 |
| Treatments | 0 drug(s) |
| Symptoms on record | 9 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO