Q77: Osteochondrodysplasia with defects of growth of tubular bones and spine
Q77.1: Thanatophoric short stature
While developing in the womb, many different types of tissue develop in the body. The organs and body parts develop out of the various types of tissue. Bones develop from cartilage tissue. If tissue fails to develop properly, serious deformities may result.
As a result of this condition, various bones in the body have changed. The arms and legs are then shortened. The body is smaller than usual. The chest may be deformed or particularly narrow. This can cause breathing problems. If the bones are not developing properly, this can be identified while in the womb via an ultrasound scan.
The condition has arisen due to a change in the genetic information. Some changes to genetic information can be passed on within the family.
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