neonatal severe primary hyperparathyroidism

MeSH: C563375ORPHA: 417

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

3.5 mM) from birth and associated with major hyperparathyroidism.

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 neonatal severe primary hyperparathyroidism, sourced from HPO and Orphanet clinical annotations.

Narrow chestAbnormal metaphysis morphologyHepatomegalyRecurrent fracturesAbnormal circulating calcium-phosphate regulating hormone concentrationAbnormality of the thyroid glandHypotoniaSplenomegalyAminoaciduriaShort stature

Classification & Codes

MeSH Code

C563375

Orphanet Code

ORPHA:417

neonatal severe primary hyperparathyroidism

MeSH	`C563375`
Orphanet	`ORPHA:417`
Treatments	0 drug(s)
Symptoms on record	10 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO