Achondroplasia Case Study

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Description of Disorder Philip Martin has a disorder called achondroplasia. Achondroplasia is the best known form of shortened-limbed dwarfism, which is a condition that results in a person being uncommonly short. There are over 200 types of dwarfism, including proportional or un-proportional. Two types of ailments are pituitary dwarfism, is based on hormonal disturbance and the pituitary gland and achondroplasia which is a genetic defect. Dwarfism can happen to any type of ethnic background or gender. Symptoms which Philip Martin is showing are a short stature, short arms, legs and fingers, large head compared to body size, difficulty of bending at the elbows and ear infections. Philip reaches the average height of a male with the disease …show more content…
Achondroplasia results in having an un-proportional body size. Philip has shortened arms and legs, but a normal sized torso and head. This causes the head and forehead to look unnaturally large compared to the rest of the body. There is a difficulty bending at the elbows because of the shortened bone structure and ear infections may happen because of the ears having narrow passages. Other symptoms of achondroplasia may include a struggle with obesity, bowed legs, back pain resulting from an abnormality with the curvature of the spine, called kyphosis or spinal stenosis which is a serious complication because the upper part of the spinal cord could be pinched due to the narrowing of the spinal cord. achondroplasia is not extremely rare. The estimated total of achondroplasia population is believed to be 65,000 worldwide and occurs in everyone one to 40,000 births. In this case, achondroplasia is more common as the father’s age increases which is interesting because usually genetic defects are associated to the growing of the mother’s age. People with this disease are known to have a normal intelligence, …show more content…
FGFR3 also known as, fibroblast growth factor receptor three, is located on the chromosome four’s short arm. The image 1.1 shows a kayrotype of Martin Phillip. Achondroplasia belon gs to a group called “chondrodystrophies,” a disorder where the bone from cartilage development is affected. Much of the skeleton is made of cartilage as early fetal development is ongoing. The FGFR3 gene makes protein that is crucial for maintenance and bone growth, by instructing the body to do so. People who are not affected by this disease go through the normal process of the cartilage transforming to bone. Phillip Martin on the other hand did not. He went through ossification. Ossification is when a lot of the cartilage on the skeleton does not convert to bone. This is caused by the mutation on the FGFR3 gene, by making the protein overactive it leads to the development being interfered with. The National Human Genome Research Institute states that, 80% of Achondroplasia cases are not inherited by their parents and are caused by new mutations, which is where Philip Martin is categorized in. This leaves the other 20% to be by inheritance. It is inherited as an autosomal dominant trait, meaning that anybody with the trait will show all of the symptoms of the disorder. If the trait is inherited by only one of the offspring’s parents it has a 50% chance to be passed down. If both of the offspring’s parents are affected it has a 25% chance

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