Worth's syndrome

ORPHA: 2790

Overview

hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate

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 Worth's syndrome, sourced from HPO and Orphanet clinical annotations.

Mandibular prognathiaSensorineural hearing impairmentNystagmusAbnormal rib morphologyAbnormal cortical bone morphologyAbnormal form of the vertebral bodiesCraniofacial hyperostosisDiaphyseal undertubulationGeneralized osteosclerosisFacial palsyTorus palatinusSclerotic vertebral bodyClavicular sclerosis

Classification & Codes

Orphanet Code

ORPHA:2790
Worth's syndrome
OrphanetORPHA:2790
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO