Living with Complex lethal osteochondrodysplasia
A rare genetic bone condition affecting skeleton development before birth, with very low bone density and many fractures.
Understanding Complex lethal osteochondrodysplasia
The whole skeleton is severely under-mineralized, with a barrel-shaped chest, short ribs and multiple fractures of the ribs and long bones before birth. Fluid build-up in the belly and around the lungs and enlarged brain spaces can occur. Differences in the brain, lungs and kidneys have also been linked.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Multiple rib fractures
- Very low bone density
- Fluid in the abdomen (ascites)
- Fluid around the lungs (pleural effusion)
- Cleft palate
- Small head and flat face
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 TAPT1 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 TAPT1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: complex lethal osteochondrodysplasia symoens barnes gistelinck type; complex lethal osteochondrodysplasia, symoens-barnes-gistelinck type; osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type
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 Complex lethal osteochondrodysplasia.
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