Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

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 (see these terms). 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.

Disease data

Classification

Disease

ORPHA code

99646

OMIM code

614875

ICD10 code

Q78.8

ICD11 code

*Soruce