Schindler Disease Type II
Description
Schindler Disease Type II is a rare, severe genetic disorder that affects bone development, leading to a range of skeletal abnormalities and ultimately, early death. It‘s a devastating condition with a profound impact on individuals and their families. This blog post delves into the complexities of Schindler Disease Type II, exploring its causes, symptoms, diagnosis, management, and the challenges faced by those affected.
Genes Involved
Schindler Disease Type II is caused by mutations in the RMRP gene. This gene provides instructions for making a component of a molecule known as RNase MRP. RNase MRP is involved in various cellular processes, including the maturation of ribosomal RNA (rRNA), which is essential for protein synthesis. Mutations in RMRP disrupt these processes, leading to the skeletal abnormalities characteristic of Schindler Disease Type II.
Recognizing the Signs and Symptoms
Schindler Disease Type II presents with severe skeletal abnormalities that become evident shortly after birth. These include:
- Short stature: Individuals with Schindler Disease Type II are significantly shorter than their peers.
- Short limbs: Arms and legs are disproportionately short, with characteristically bowed legs.
- Joint stiffness and limited range of motion: Joints are often rigid, making movement difficult.
- Deformities of the spine: Spinal curvature (scoliosis) is a common feature.
- Fractures: Bones are brittle and prone to fractures, even with minimal stress.
- Respiratory problems: Severe skeletal abnormalities can affect the chest wall, making breathing difficult.
- Delayed development: Motor skills and other developmental milestones may be delayed.
Causes
Schindler Disease Type II is an inherited genetic disorder caused by mutations in the RMRP gene. These mutations are passed down from parent to child in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. If only one parent carries the mutation, their child will be a carrier but will not have the disease.
Inheritance/recurrence risk
Schindler Disease Type II is inherited in an autosomal recessive pattern. This means that both parents must carry a copy of the mutated RMRP gene for their child to inherit the disorder. If both parents are carriers, there is a 25% chance for each pregnancy that their child will have Schindler Disease Type II, a 50% chance that their child will be a carrier like them, and a 25% chance that their child will not inherit the mutation at all.
If one parent has Schindler Disease Type II, all of their children will inherit the mutated gene and become carriers. However, the children will not have the disorder unless the other parent also carries the mutated gene.
