Living with Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
A rare inherited bone syndrome with short stature, a small upper jaw, and short fingers, seen in one French-Canadian family.
Understanding Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Face differences include a beaked nose, short groove above the lip, thin lips, a small upper jaw, and yellowish, poorly formed teeth. The fifth hand bones or middle finger bones may be short. It was described in several members of a French-Canadian family across four generations. It starts in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Short stature
- Bone differences near the ends of long bones
- Small upper jaw
- Beaked nose and thin lips
- Poorly formed, yellowish teeth
- Short fifth hand bones or middle finger bones
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 RUNX2 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 rare disease patient organizations for support
- 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 RUNX2 gene are listed as a cause. It is likely passed down in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: metaphyseal dysplasia and maxillary hypoplasia with or without brachydactyly; metaphyseal dysplasia with maxillary hypoplasia and brachydactyly; metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome.
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