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Start free with EleplanMetaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
ORPHA:99646Disease
Also called MC-HGA
What it is
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.
Key facts
- Age of onset
- Childhood, Infancy, Neonatal
- Inheritance
- Not applicable
- Classified as
- Disease
Signs and symptoms
Very common80–99%
5Common30–79%
13- Abnormal joint morphology
- Failure to thrive
- Growth delay
- Intrauterine growth retardation
- Irregular vertebral endplates
- Metaphyseal chondromatosis of femur
- Metaphyseal chondromatosis of radius
- Metaphyseal chondromatosis of tibia
- Metaphyseal chondromatosis of ulna
- Metaphyseal cupping
- Platyspondyly
- Short phalanx of finger
- Short stature
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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