dysplastic cortical hyperostosis

ORPHA: 2204

Overview

human disease

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 dysplastic cortical hyperostosis, sourced from HPO and Orphanet clinical annotations.

Abnormality of the urinary systemMicrocephalyPolyhydramniosSplenomegalyHydrops fetalisHepatomegalyAbnormality of neuronal migrationSkeletal dysplasiaAbnormal limb bone morphologyAbnormal cortical bone morphologyShort statureAplasia/Hypoplasia of the lungsLimb undergrowthIncreased bone mineral density

Classification & Codes

Orphanet Code

ORPHA:2204
dysplastic cortical hyperostosis
OrphanetORPHA:2204
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO