hypophosphatasia
MeSH: D007014ORPHA: 436
Overview
rare, and sometimes fatal, metabolic bone 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 hypophosphatasia, sourced from HPO and Orphanet clinical annotations.
Abnormality of the dentitionLarge fontanellesIrritabilityAbnormal rib morphologyNarrow chestAbnormal metaphysis morphologySkin dimple over apex of long bone angulationSeizureHypotoniaCraniosynostosisFailure to thrive in infancyAnemiaRespiratory insufficiencyEmphysemaRecurrent fracturesHypercalcemiaShort statureBowing of the long bonesFeeding difficulties in infancySkin dimple
Classification & Codes
MeSH Code
D007014Orphanet Code
ORPHA:436hypophosphatasia
| MeSH | D007014 |
| Orphanet | ORPHA:436 |
| Treatments | 0 drug(s) |
| Symptoms on record | 20 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO