SOST-related sclerosing bone dysplasia
ORPHA: 3152
Overview
hyperostosis that has material basis in a mutation in the SOST gene which results in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located in skull
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 SOST-related sclerosing bone dysplasia, sourced from HPO and Orphanet clinical annotations.
Tall statureAbnormality of the noseSensorineural hearing impairmentPtosisOptic atrophy2-3 finger cutaneous syndactylyAbnormal cortical bone morphologyCraniofacial hyperostosisDiaphyseal undertubulationFinger syndactylyCurved distal phalanges of the handFacial palsyIncreased bone mineral densityFingernail dysplasia
Classification & Codes
Orphanet Code
ORPHA:3152SOST-related sclerosing bone dysplasia
| Orphanet | ORPHA:3152 |
| Treatments | 0 drug(s) |
| Symptoms on record | 14 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO