A severe condition that effects the cartilage and bone development is known as atelosteogenesis type 2. Infants born with the disorder have short arms and legs, a narrow chest, and a prominent round abdomen. Besides, another characteristic of the disorder is the opening in the roof of the mouth, distinctive facial features, inward and upward turning foot, and thumbs places at an abnormal locations.
The signs and symptoms of the condition are quite similar to those of another skeletal disorder known as diastrophic dysplasia. However, atelosteogenesis type 2 is more severe in nature. Due to suffering from serious health related issues infants born with this problem usually stillborn or die soon after birth.
Atelosteogenesis type 2 is an extremely rare disorder and its occurrence is not known yet.
Atelosteogenesis type 2 is a disorder of the skeleton which is caused by the mutation of SLC26A2 gene. This gene is responsible for giving instructions for making a protein which is important for the normal development of cartilage and for its conversion to bone. The hard, flexible tissue that forms much part of the skeleton during early development is known as cartilage. Major part of cartilage is converted to bone, except from the part that protects the ends of bones and can be found in the nose and external ears. When mutation occurs in the gene, it hinders the growth and disrupts the structure of developing cartilage, preventing the bones from forming properly.
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