What is Stoneman syndrome?
Stoneman syndrome, or Fibrodysplasia ossificans progressive (FOP), is a condition in which a person develops bone in areas where bone isn’t supposed to be, like ligaments and tendons. Skeletal muscles and soft connective tissues transform into bone, making movement difficult or impossible. This condition, first identified in the 18th century, is a 1 in 2 million genetic disorder that affects everyone regardless of gender or ethnicity.
Causes
Stoneman syndrome is caused by a gene variation. Sometimes, this trait appears multiple times in the family, and other times, it does not. It has about a 50% chance of being passed down to children.
Symptoms
The most prominent symptom of Stoneman syndrome is having malformations on the big toe. Big toes are often shorter but can be malformed in other ways. This symptom is present at birth, and present in everyone with Stoneman syndrome. Some other examples of symptoms are:
- Thumb malformations
- Affected areas in the neck, back, chest, arms, and legs.
- Chronic swelling
- Stiffness and limited movement of joints
- Eventual immobilization.
- Difficulty eating or speaking
- Hearing impairment
First symptoms usually occur during early childhood, and continue progressing throughout life.
Treatments
Currently, there is no cure for Stoneman syndrome, but research is ongoing. Treatments are preventative and aim to reduce symptoms. They also vary from person to person but can include genetic counseling, occupational therapy, preventative antibiotic therapy, taking certain medications to relieve pain, wearing a brace, and using mobility equipment.
RELATED STORIES
- https://pmc.ncbi.nlm.nih.gov/articles/PMC5372410/
- https://rarediseases.org/rare-diseases/fibrodysplasia-ossificans-progressiva/
- https://medlineplus.gov/genetics/condition/fibrodysplasia-ossificans-progressiva/
- https://my.clevelandclinic.org/health/diseases/24476-fibrodysplasia-ossificans-progressiva
- https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-019-2297-z
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