sclerosteosis

MeSH: C537525ORPHA: 3152

Overview

hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life

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 sclerosteosis, 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

MeSH Code

C537525

Orphanet Code

ORPHA:3152
sclerosteosis
MeSHC537525
OrphanetORPHA:3152
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
sclerosteosis | OrphanDrug