The "human statue diagnosis" refers to Fibrodysplasia Ossificans Progressiva (FOP), also known as Stoneman Syndrome.
Understanding Fibrodysplasia Ossificans Progressiva (FOP)
FOP is a rare and severely disabling genetic disorder affecting connective tissue. The condition is characterised by:
- Malformation of the big toes, thumbs, and vertebrae: These abnormalities are often present from birth.
- Progressive ossification: Soft tissues, including muscles, tendons, and ligaments, gradually turn into bone (ossify).
Key Characteristics
| Feature | Description |
|---|---|
| Alternative Names | Stoneman Syndrome |
| Type of Disorder | Genetic disorder affecting connective tissue |
| Primary Manifestation | Progressive heterotopic ossification (formation of bone in abnormal locations) |
| Common Congenital Feature | Malformation of the big toes |
| Impact | Severely disabling; restricts movement and can lead to significant physical limitations as the disease progresses. |
In summary, the "human statue diagnosis" describes the condition Fibrodysplasia Ossificans Progressiva (FOP), a rare genetic disorder where soft tissues progressively turn into bone, severely restricting movement.
