polyendocrine-polyneuropathy syndrome
ORPHA: 453533
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 polyendocrine-polyneuropathy syndrome, sourced from HPO and Orphanet clinical annotations.
Hypogonadotropic hypogonadismAtaxiaDysarthriaDystoniaAlopeciaProgressive hearing impairmentPes cavusHypoglycemiaModerate intellectual disabilityType II diabetes mellitusDemyelinating peripheral neuropathyAbnormal pyramidal signDecreased testicular sizePostnatal growth retardationProximal lower limb muscle weaknessDecreased circulating follicle stimulating hormone concentrationDecreased circulating luteinizing hormone levelDecreased serum testosterone concentrationEMG: slow motor conductionCerebellar hypoplasiaAnterior pituitary hypoplasiaCentral hypothyroidismHypoinsulinemia
Classification & Codes
Orphanet Code
ORPHA:453533polyendocrine-polyneuropathy syndrome
| Orphanet | ORPHA:453533 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO