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Ghosal hematodiaphyseal dysplasia

MeSH: C565551ORPHA: 1802

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia

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 Ghosal hematodiaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.

Abnormal metaphysis morphologySplenomegalyAnemiaAbnormal speech patternAbnormal pelvic girdle bone morphologyAbnormal femur morphologyAbnormal tibia morphologyAbnormal cortical bone morphologyAbnormal form of the vertebral bodiesCraniofacial hyperostosisDiaphyseal undertubulationBowing of the long bonesAbnormality of immune system physiology

Classification & Codes

MeSH Code

C565551

Orphanet Code

ORPHA:1802
Ghosal hematodiaphyseal dysplasia
MeSHC565551
OrphanetORPHA:1802
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO