Living with Lethal osteosclerotic bone dysplasia
A rare inherited bone condition with dense, thick bones, facial differences, and brain changes, noticed before or at birth.
Understanding Lethal osteosclerotic bone dysplasia
Bones become abnormally dense (osteosclerosis), with extra bone forming on their surface. The face looks different, and the brain has calcium deposits. It may be noticed during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Breathing difficulties
- Bulging eyes
- Cleft palate
- Small lower jaw (micrognathia)
- Gum overgrowth
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 FAM20C 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
It is caused by changes in the FAM20C gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: osteomalacia, sclerosing, with cerebral calcification; osteosclerotic bone dysplasia; osteosclerotic bone dysplasia, lethal; raine dysplasia; raine syndrome; rns
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 Lethal osteosclerotic bone dysplasia.
Explore research for Lethal osteosclerotic bone dysplasia
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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