Living with Brachyolmia-amelogenesis imperfecta syndrome
An exceedingly rare form of brachyolmia with a short trunk, a curved spine, and tooth enamel problems.
Understanding Brachyolmia-amelogenesis imperfecta syndrome
It includes mild flattened spine bones, broad hip bones, and short stature with a short trunk. Both baby teeth and permanent teeth are affected by amelogenesis imperfecta (poorly formed enamel). It is noted in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Fewer teeth than usual (oligodontia)
- Poorly formed tooth enamel
- Small teeth
- Curved spine (scoliosis)
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, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in LTBP3 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); 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
Changes in the LTBP3 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive brachyolmia and amelogenesis imperfecta syndrome; brachyolmia and amelogenesis imperfecta syndrome; dass; dental anomalies and short stature; platyspondyly amelogenesis imperfecta; platyspondyly with amelogenesis imperfecta
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 Brachyolmia-amelogenesis imperfecta syndrome.
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