Living with Autosomal recessive osteopetrosis 6
An inherited bone condition that makes bones denser and prone to fractures, starting in childhood.
Understanding Autosomal recessive osteopetrosis 6
Osteopetrosis is a group of rare inherited bone disorders. Symptoms and severity vary a lot, from newborn onset to being found by chance on an X-ray. Features may include fractures, short height, nerve pressure, and low blood counts. Onset for this type is listed as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Recurrent fractures
- Back pain
- Overall denser bones (osteosclerosis)
- Flask-shaped thighbone ends
- Denser bone at the base of the skull
- Layered look of spine bones on X-ray
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 PLEKHM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- 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 Muscular Dystrophy Association
- 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 PLEKHM1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive intermediate osteopetrosis; autosomal recessive osteopetrosis intermediate form; autosomal recessive osteopetrosis type 6; intermediate osteopetrosis; optb6; osteopetrosis (disease) caused by mutation in plekhm1
Patient organizations
- Muscular Dystrophy AssociationAutosomal recessive osteopetrosis 6 · United States
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