Dysosteosclerosis

ICD-10: Q78.8MeSH: C562973ORPHA: 1782

Overview

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly

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 Dysosteosclerosis, sourced from HPO and Orphanet clinical annotations.

MacrocephalyHypertelorismHearing impairmentNystagmusOptic atrophyAbnormal dental enamel morphologyDelayed eruption of teethPlatyspondylyAbnormal metaphysis morphologyIntellectual disabilityAbnormal cranial nerve morphologyVentricular septal defectDevelopmental regressionCerebral calcificationRecurrent fracturesIrregular vertebral endplatesShort statureCraniofacial hyperostosisAplasia/Hypoplasia of the skinHypoplastic vertebral bodiesIncreased bone mineral densityCoarse metaphyseal trabecularization

Classification & Codes

ICD-10 Code

Q78.8

MeSH Code

C562973

Orphanet Code

ORPHA:1782
Dysosteosclerosis
ICD-10Q78.8
MeSHC562973
OrphanetORPHA:1782
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Dysosteosclerosis | OrphanDrug