Mabry Syndrome
Description
Mabry Syndrome is a rare genetic disorder characterized by abnormalities in bone development, leading to various skeletal problems. This blog provides comprehensive information on Mabry Syndrome, covering its signs and symptoms, causes, diagnosis, management strategies, and ways for individuals to thrive with this condition.
Genes Involved
Genes Involved:
Mabry Syndrome is caused by mutations in the COL1A1 or COL1A2 genes. These genes provide instructions for making collagen type I, a protein essential for the formation of bones, tendons, and ligaments. Mutations in these genes can disrupt collagen production, leading to the characteristic skeletal abnormalities.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Skeletal Abnormalities:
- Short stature (dwarfism)
- Deformed or misshapen bones (e.g., bowed legs, scoliosis, kyphosis)
- Joint pain and stiffness
- Limited range of motion
- Other Potential Symptoms:
- Dental problems
- Hearing loss
- Vision problems
- Intellectual disability
- Delayed development
It‘s important to note that the severity of symptoms can vary greatly among individuals with Mabry Syndrome.
Causes
Causes:
Mabry Syndrome is a genetic disorder, meaning it is caused by changes in the individual‘s genes. Most cases are caused by spontaneous mutations, meaning they occur randomly during the formation of the egg or sperm. In some cases, the condition can be inherited from a parent.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
If one parent carries a mutation in a COL1A1 or COL1A2 gene, there is a 50% chance of passing it on to their child. If both parents carry a mutation, there is a higher chance of their child having Mabry Syndrome. It‘s important to note that not all individuals who inherit a mutation will develop Mabry Syndrome, as the severity can vary.
