Achondroplasia+Presentation+EAT

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= = =Achondroplasia=
 * Mutation in chromosome 4
 * called the fibroblast growth factor receptor 3
 * this gene controls the production of a protein that is located on the outside tissue of different cells that signals cell growth
 * it maintains and controls the growth of bone and brain tissue
 * amino acid glycine is replaced with the amino acid arginine at protein position 380 (written as Gly380Arg or G380R)
 * this causes the receptor to be over active... destructing the bone growth... causing the bones to be smaller
 * still trying to figure out why this causes the symptoms of achondroplasia... it can also lead to more understanding and/or treatment for this disorder
 * it only takes one mutated gene to effect a child
 * a dominate gene
 * 7/8ths of the cases occur to a "new mutation"
 * they have a spontaneous mutation in a new/different gene that causes this disorder
 * a "random" cause
 * usually a mutation in either the sperm or the egg which produced the child
 * risk of this happening increases with age (of parents)
 * passing it on
 * two normal sized parents
 * one small one normal
 * there is a 50% chance (with each pregnancy) that the child will have the disorder
 * the child can either have the inherited mutated gene or have a "new gene" mutation
 * two small
 * each parent has a 50% chance of passing on the mutated gene to their child
 * each pregnancy
 * 25% chance of having a normal child
 * 50% chance of having a small child
 * 25% chance of passing on two of the mutated genes
 * leads to a skeletal failure which causes early death
 * destruction of chest and breathing failure
 * Fast facts
 * A person who has short stature
 * an adult who is 4 feet 10 inches... or less
 * Doesnt cause intellectual disabilities
 * Doesnt need a cure
 * Most can live a full life
 * Symptoms
 * bnormal bone growth
 * Disproportionate legs, arms, and fingers
 * Short
 * Large head
 * Prominent forehead
 * Mid-face hypoplasia
 * Usually have normal life span and intelligence
 * Usually have weak muscle tone
 * may cause delays in walking and other motor skills
 * compression of the spinal cord
 * impaired upper airway
 * Apnea
 * breathing slows downs or stops for short periods of time
 * Obesetiy
 * Chronic ear infections
 * Difficulty walking
 * Bowed legs
 * Curved spine
 * Diagnosis
 * Some are diagnosed with prenatal testing
 * Most cases are noticed once a child has been born
 * it is diagnosed on the appearance, failure to grow, and bone x-rays
 * Depending on the child and what type of dwarfism they have... it can sometimes be diagnosed at birth
 * Once the person has been diagnosed... there is no treatment
 * Short stature due to hormone problems or metabolic problems can be treated with shots... but if i is a skeletal problem there is nothing that can be done
 * You can get treatment with some of the complications that come along with being a dwarf... but there is no treatment to help you grow
 * EX: hearing or vision
 * complications and treatments
 * Causes
 * Usually caused by a spontaneous mutation in the egg or sperm before conception
 * the cause of the mutation is not known
 * it is unpredictable
 * unstoppable
 * It is usually not inherited
 * It is inherited equally between men and women
 * it is not more prevalent in one sex
 * Usually caused by a new gene mutation
 * most who are affected have parents with a normal structure
 * Parents who have one child with the mutation have little to no chance of having another child with the mutation
 * Mutated people have a 50% chance of having children with the mutation (with each pregnancy)
 * Mutation in chromosome 4
 * called the fibroblast growth factor receptor 3
 * this gene controls the production of a protein that is located on the outside tissue of different cells that signals cell growth
 * it maintains and controls the growth of bone and brain tissue
 * amino acid glycine is replaced with the amino acid arginine at protein position 380 (written as Gly380Arg or G380R)
 * this causes the receptor to be over active... destructing the bone growth... causing the bones to be smaller
 * still trying to figure out why this causes the symptoms of achondroplasia... it can also lead to more understanding and/or treatment for this disorder
 * Types of short stature
 * **skeletal dysplasias**
 * the most common
 * short-trunk
 * short trunk
 * long limbs
 * short-limb dysplasias
 * normal trunk
 * short limbs
 * Achondroplasia
 * long trunk
 * short limbs
 * a large head
 * prominent forehead
 * flattened nose bridge
 * shortened hands and fingers
 * usually only reach 4 feet
 * diastrophic dysplasias
 * very uncommon
 * happens in 1 and 100,000 births
 * cleft palate
 * clubfeet
 * cauliflower ears
 * short forearms and calf's
 * **Spondyloepiphyseal dysplasias (SED**
 * one of the most common from of dwarfism
 * some kids dont show an apparent short trunk until they are about 5 or 10... but some are noticeable at birth
 * clubfeet
 * cleft palate
 * a barrel-chest
 * cleft palate
 * a barrel-chest