Chondrodysplasia punctata, tibial-metacarpal type is a rare genetic disorder characterized by short stature, skeletal abnormalities, and distinctive facial features. It is caused by a mutation in the PEX7 gene, which is responsible for the production of an enzyme called peroxisomal biogenesis factor 7. This enzyme is essential for the proper functioning of peroxisomes, which are small organelles found in cells that are involved in many important metabolic processes. People with this disorder typically have short stature, short limbs, and short fingers and toes. They may also have distinctive facial features, including a broad forehead, a flat nasal bridge, and a wide mouth. Other features may include joint contractures, scoliosis, and hearing loss.

The symptoms of Chondrodysplasia punctata, tibial-metacarpal type, include short stature, shortening of the long bones of the arms and legs, and malformation of the hands and feet. Other features may include joint contractures, facial abnormalities, and intellectual disability.

Chondrodysplasia punctata, tibial-metacarpal type is caused by mutations in the PEX7 gene. This gene is responsible for the production of a protein called peroxisomal biogenesis factor 7, which is involved in the formation of peroxisomes. Peroxisomes are organelles that are important for the breakdown of fatty acids and other molecules. Mutations in the PEX7 gene can lead to a decrease in the number of functional peroxisomes, resulting in the skeletal abnormalities seen in Chondrodysplasia punctata, tibial-metacarpal type.

The treatments for Chondrodysplasia punctata, tibial-metacarpal type, depend on the severity of the condition. Treatment may include physical therapy, occupational therapy, and orthopedic surgery to correct any skeletal deformities. In some cases, medications such as nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation. In severe cases, growth hormone therapy may be recommended to help improve bone growth. In addition, genetic counseling may be recommended to help families understand the condition and its implications.

1. Genetic mutation: Chondrodysplasia punctata, tibial-metacarpal type is caused by a mutation in the PEX7 gene.

2. Family history: Individuals with a family history of Chondrodysplasia punctata, tibial-metacarpal type are at an increased risk of developing the condition.

3. Gender: Chondrodysplasia punctata, tibial-metacarpal type is more common in males than females.

4. Ethnicity: Chondrodysplasia punctata, tibial-metacarpal type is more common in individuals of Middle Eastern descent.

At this time, there is no known cure for Chondrodysplasia punctata, tibial-metacarpal type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, orthopedic surgery, and medications to help manage pain and inflammation.