Living with Odontochondrodysplasia 1
A rare genetic bone condition with short stature, loose joints, and fragile teeth.
Understanding Odontochondrodysplasia 1
It combines a skeletal dysplasia of the spine and ends of long bones with joint looseness and brittle, discolored teeth (dentinogenesis imperfecta). Skeletal features include short stature, a narrow chest, scoliosis, and short limbs. Differences in the lungs, kidneys, and brain have also been reported. GARD lists newborn and infant years as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Narrow chest
- Curved spine (scoliosis)
- Very flexible joints
- Dentinogenesis imperfecta (tooth differences)
- Flattened spine bones (platyspondyly)
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 TRIP11 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 Kniest SED Group
- 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 TRIP11 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome; odcd
Patient organizations
- Kniest SED GroupOdontochondrodysplasia 1 · United States
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