Living with Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
An extremely rare genetic condition with unerupted permanent teeth, underdeveloped upper jaw, and knock knees.
Understanding Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
People have several permanent teeth that never come in (unerupted teeth) and an underdeveloped upper jaw and cheekbone area. They also have severe knock knees (genu valgum) and deformed ears. GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed or missing eruption of teeth
- Fewer teeth than expected (hypodontia)
- Underdeveloped upper jaw and cheekbone area
- Knock knees (genu valgum)
- Flattened cheekbones
- Ears rotated toward the back of the head
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 genetic specialists and gum, teeth and mouth specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- 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
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: multiple none-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects; stoelinga-de koomen-davis syndrome
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 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome.
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