Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
ORPHA:99646· ICD-10 Q78.8
Definition
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.
- Prevalence
- Unknown
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy, Neonatal