sclerosteosis 2
ORPHA: 3152
Overview
sclerosteosis that has material basis in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11
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 2, 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:3152sclerosteosis 2
| 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