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Achondroplasia By Justin Baker

Achondroplasia By Justin Baker. What is Achondroplasia?.

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Achondroplasia By Justin Baker

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  1. AchondroplasiaBy Justin Baker

  2. What is Achondroplasia? • Achondroplasia is a disorder of bone growth; it’sa hereditary condition in which the growth of long bones by ossification of cartilage is retarded, resulting in very short limbs and sometimes a face that is small in relation to the (normal-sized) skull. It is the most common form of disproportionate short stature. It happens in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene mutation in the FGFR3 gene.

  3. FGFR3 Gene • The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with Achondroplasia. All people that only have a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have Achondroplasia. Mutations in the FGFR3 gene cause Achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.

  4. Average Height • The average height of an adult male with Achondroplasia is 4 feet, 4 inches, and the average height for adult females is 4 feet, 1 inch.

  5. Body Features • People who have Achondroplasia have abnormal bone growth that causes the following symptoms: • Short stature, a long trunk, and shortened limbs, which are noticeable at birth • A head that is large and a forehead that is prominent • Portions of the face can be underdeveloped • At birth, the legs appear straight, but as a child begins to walk, he or she develops a knock-knee or bowed-leg deformity • The hands and the feet appear large, but the fingers and toes are short and stubby • Straightening of the arm at the elbow may be limited, but usually does not keep a patient from doing any specific activities • Children may develop an excessive curve of the lower back and a waddling walking pattern • Dental problems

  6. Health issues • The intelligence and life span in individuals with Achondroplasia is usually normal. Infants born with Achondroplasia typically have weak muscle tone, meaning there may be delays in walking and other motor skills. Compression of the spinal cord and/or upper airway increases the risk of death in infancy. People with Achondroplasia commonly have breathing problems in which breathing stops or slows down for short periods. Other health issues include: • Obesity • Recurrent ear infections.

  7. Testing • Adults with Achondroplasia may develop a permanent sway of the lower back and bowed legs. The problems with the lower back can cause back pain leading to difficulty with walking. Achondroplasia is diagnosed by characteristic clinical and X-ray findings in most affected. In some, who may be too young to make a diagnosis with certainty or in some who do not have the typical symptoms, genetic testing can be used to identify a mutation in the FGFR3 gene. Genetic testing can identify mutations in 99 percent of some who have Achondroplasia. Testing for the FGFR3 gene mutation is available in clinical laboratories.

  8. Treatments • No specific treatment is available for Achondroplasia. Treatment with human growth hormone has been used for over a decade. It effectively increases bone growth rate, at least in the first year of life. There have been few studies looking at whether children treated with growth hormone achieve greater adult height. Children born with Achondroplasia need to have their height, weight and head circumference monitored using special growth curves standardized for Achondroplasia. Measures to avoid obesity at an early age are recommended. A magnetic resonance imaging or CT scan may be needed for further evaluation of severe muscle weakness or signs of spinal cord compression. Bladder is also evaluated. To help with breathing, surgical removal of the adenoids and tonsils, continuous positive airway pressure by nasal mask or a surgical opening in the airway may be needed to correct obstructive sleep apnea

  9. Surgeries • When there are problems with the lower limbs such as: • Hyperreflexia • Clonus • Central hypopnea • Then surgery called sub occipital decompression is performed to decrease pressure on the brain. Children who have Achondroplasia need careful monitoring and support for social adjustment.

  10. How can a pair of twins look if one twin has Achondroplasia?

  11. Parents-Children Connection • Most cases of Achondroplasia are not inherited. When Achondroplasia is inherited, it is inherited in an autosomal dominant manner. Over 80 percent of people who have Achondroplasia have parents with normal stature and are born with Achondroplasia as a result of a new gene mutation called de novo. These parents have a small chance of having another child with Achondroplasia. A person who has Achondroplasia who is planning to have children with a partner who does not have Achondroplasia has a 50 percent chance with each pregnancy of having a child with Achondroplasia. When both parents have Achondroplasia, the chance for them, together, to have a child with normal stature is 25 percent. Their chance of having a child with Achondroplasia is 50 percent. Their chance for having a child who inherits the gene mutation from both parents is 25 percent.

  12. Cool Fact!!! Jason Acuna aka Wee Man who is from MTV Steve-o, Nitro Circus and more, also has Achondroplasia.

  13. Sources • http://www.med.nyu.edu/content?ChunkIID=23862#risk • http://rarediseases.info.nih.gov/gard/8173/achondroplasia/resources/1 • https://www.genome.gov/19517823 • http://ghr.nlm.nih.gov/condition=achondroplasia • http://www.med.nyu.edu/content?ChunkIID=23862

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