Living with Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
A rare bone condition with missing or pointed teeth, flattened spine bones, and thin, tapering fingers.
Understanding Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
People have fewer teeth than usual, with pointed front teeth. X-rays show flattened spine bones and changes at the ends and growing parts of other bones. Fingers are thin and tapering, and the creases in the palms are deeper than usual. GARD says signs may begin in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes:
- Fewer teeth than usual
- Pointed front teeth
- Flattened spine bones (platyspondyly)
- Bone changes at the ends of long bones
- Thin, tapering fingers
- Deeper creases in the palms
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes (variants) cause this condition. GARD doesn't list which gene.
Also known as: spondyloepimetaphyseal dysplasia with abnormal dentition; spondyloepimetaphyseal dysplasia, abnormal dentition 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 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome.
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