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Start free with EleplanGhosal hematodiaphyseal dysplasia
ORPHA:1802Malformation syndrome
Also called Ghosal syndrome · Diaphyseal dysplasia-anemia syndrome
What it is
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
11- Abnormal cortical bone morphology
- Abnormal form of the vertebral bodies
- Abnormality of femur morphology
- Abnormality of immune system physiology
- Abnormality of pelvic girdle bone morphology
- Abnormality of tibia morphology
- Abnormal metaphysis morphology
- Anemia
- Bowing of the long bones
- Craniofacial hyperostosis
- Diaphyseal thickening
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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