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Achondroplasia

Achondroplasia. Achondroplasia. Achondroplasia  is a disorder of bone growth that causes the most common type of dwarfism. It is one of a group of disorders called chondrodystrophies or osteochondrodysplasias Most people have normal intelligance!

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Achondroplasia

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  1. Achondroplasia

  2. Achondroplasia • Achondroplasia  is a disorder of bone growth that causes the most common type of dwarfism. • It is one of a group of disorders called chondrodystrophies or osteochondrodysplasias • Most people have normal intelligance! • Achondroplasia is a genetic disorder that is associated with the fibroblast growth factor receptor 3, or FGFR3

  3. Symptoms • Some symptoms of Achondroplasia are: • Abnormal hand appearance with persistent space between the long and ring fingers • Bowed legs • Decreased muscle tone • Disproportionately large head-to-body size difference • Prominent forehead (frontal bossing) • Shortened arms and legs (especially the upper arm and thigh) • Short stature (significantly below the average height for a person of the same age and sex) • Spinal stenosis • Spine curvatures called kyphosis and lordosis

  4. Diagnosis • During pregnancy, a prenatal ultrasound may show excessive amniotic fluid surrounding the unborn infant. • Examination of the infant after birth shows increased front-to-back head size. There may be signs of hydrocephalus ("water on the brain"). • X-rays of the long bones can reveal achondroplasia in the newborn.

  5. Prognosis • People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.

  6. Treatment • There is no specific treatment for achondroplasia. Related abnormalities, including spinal stenosis and spinal cord compression, should be treated when they cause problems.

  7. Current Research • In one current research for achondroplasia, mice were used. Here the scientists used gene targeting to bring about a mutation in the FGFR3 gene. This resulted in dominant dwarf mice being produced. These mice were small in size, suffered from hypoplasia of the mid face, had protruding incisors, the craniofacial region was shortened, the cranium was distorted, and they suffered from narrow and distorted growth in the long bones, ribs and vertebrae. The mice produced 242,257 offsprings, and 7 offsprings were born with achondroplasia.

  8. Genetic Counseling • An individual with achondroplasia who has a reproductive partner with normal stature has a 50% risk in each pregnancy of having a child with achondroplasia. When both parents have achondroplasia, the risk to their offspring of having normal stature is 25%; of having achondroplasia, 50%; and of having homozygous achondroplasia (a lethal condition), 25%. Prenatal molecular genetic testing is available.

  9. “Living with Achondroplasia” • For years I had been watching and waiting with something like trepidation, and the moment finally arrived. My baby sister was taller than me. I was born with the genetic condition (not disorder, people!) achondroplasia, which is the most common form of dwarfism. •  I am the third generation of my family to be affected: like my brother, my dad and my grandfather before him, I have short arms and legs, small hands and feet and a differently-shaped skull. • We look very different. Everywhere I go, I attract curiosity, and there are aspects of being a small person which are very difficult, but I would be the first person to disagree with the assumption that small people are in some way brave, special or cute. We are normal people, living normal lives. We are born, eat, sleep, breathe, work, study, marry, have children, get ill and die, just like everyone else.

  10. Continued… • I have what I think is an ordinary, uninteresting life. I live in Gateshead with my mum, stepdad, and two sisters, Alba, 17, and Violet, 12, with my dad and stepmum around the corner, and my brother Robert, 16, living down in Cambridge. I am just about to go into Year 13 at sixth form, waiting anxiously for my AS-results, and one day would like to go on to study English at university.

  11. Continued… • I don't notice the little things that I have to do differently from other people. My family and I have always just got on with life, finding ways to get around what we can't do and focusing on what we can. To me, the ins and outs of life as a dwarf are all very mundane.

  12. By: Jessica Johnson 6th hour Biology.

  13. Resources • https://health.google.com/health/ref/Achondroplasia • http://www.scumdoctor.com/disease-prevention/genetic-disorders/achondroplasia/Current-Research-For-Achondroplasia.html • http://www.ncbi.nlm.nih.gov/books/NBK1152/ • http://www.chroniclelive.co.uk/tm_objectid=15818536&method=full&siteid=50081&headline=it-s-a-tall-world-for-people-like-me-name_page.html%20

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