Achondroplasia

Chondroblast hypoplasia (ACH) is the most common form of short-term dwarfism occurring at birth from 15,000 to 28,000 years of age, although it is slightly prevalent in women but more prevalent in race It seems to be (1-3). Egypt has found evidence that cases of ACH can be traced back to 4,500 BC. (4) Briefly, ACH is a disease in which bones formed in cartilage dwarf (5). The disease is associated with many features including shortening of proximal extremity (proximal), huge brain malformation (enlargement of the brain), short stature, trigeminal nerve and protrusion of the forehead (projection of forehead) (1,3 , 4, 5 to 8). .

Chondrogenic dysplasia is short dementia dwarfism. The term "achondroplasia" literally means "cartilage is not formed". Cartilage is a tough but flexible tissue that forms the majority of bone during early development. However, in achondroplasia, the problem is not to form cartilage, but to convert it into bone (a process called ossification), especially in long bones with arms and legs. Chondrogenesis is similar to another bone disease called achondroplasia, but the characteristics of achondroplasia are often more severe.

Dysplasia of cartilage is bone growth disorder. This is the most common form of disproportionately short stature. It occurs in one out of 15,000 to 40,000 births. Chondrogenic dysfunction is caused by a genetic change (mutation) in the FGFR3 gene. The FGFR3 gene produces a protein called fibroblast growth factor receptor 3, which is involved in the conversion of cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All individuals with only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene have achondroplasia

Chondroplasia is inherited as autosomal dominant, in which only a single copy (mutation) of the abnormal gene is required to cause achondroplasia. The gene of achondroplasia is completely infiltrated, and anyone who has it has achondroplasia. People without genes escape from achondroplasia. However, there are some differences in the expression of this gene. This means that children with achondroplasia are not carbon copies of each other.

Studies of a gene family called fibroblast growth factor have revealed genes that cause achondroplasia. The goal is to understand how defective genes can cause dysplasia to improve treatment outcome. These genes are associated with many other hereditary bone diseases