Metatropic dysplasia is a rare genetic disorder that affects bone growth and development. It is caused by mutations in the RMRP gene. This gene provides instructions for making a component of a molecule called RNase MRP. This molecule is involved in the process of making ribosomes, which are essential for protein synthesis.
Mutations in the RMRP gene can lead to a variety of skeletal abnormalities, including:
- Short stature: People with metatropic dysplasia are typically very short, with disproportionately short limbs.
- Deformed bones: The bones may be misshapen, curved, or brittle.
- Joint problems: People with metatropic dysplasia may have joint pain, stiffness, and limited range of motion.
- Breathing difficulties: The chest may be narrow, making it difficult to breathe.
- Other problems: Metatropic dysplasia can also cause problems with the heart, kidneys, and nervous system.
There is no cure for metatropic dysplasia, but treatment can help manage the symptoms. Treatment may include:
- Physical therapy: To help improve mobility and strength.
- Bracing: To support weak bones and joints.
- Surgery: To correct bone deformities or to improve joint function.
- Medications: To manage pain and other symptoms.
It is important to note that the severity of metatropic dysplasia can vary widely from person to person. Some individuals may have only mild symptoms, while others may have severe disabilities.
