Living with Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
An extremely rare genetic condition with cartilage growths in the bones and high levels of a chemical in the urine.
Understanding Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Features include short stature, bone changes near the ends of long bones, mild spine involvement, and mild developmental delay. It can start from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cartilage growths in bones (enchondromatosis)
- Short stature and growth delay
- Widened, irregular bone ends
- Flattened spine bones
- Poor weight gain
- Slow growth before birth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in IDH1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Organic Acidemia Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the IDH1 gene cause this condition.
Also known as: mc-hga; metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria; metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria; spondyloenchondromatosis with d-2-hydroxyglutaric aciduria
Patient organizations
- Organic Acidemia AssociationMetaphyseal chondromatosis with D-2-hydroxyglutaric aciduria · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria.
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