Achcondroplasia

  • essential question

    • People with this issue can live somewhat normal lives but they will have physical issues but they do not have any mental issues. If you have this disorder you will have a different life style than normal people but you will be able to get an education and there are others with the disorder so you will be able to get married and have kids.
  • Introduction

    • The name of the disorder is Achondroplasia which means without cartilage formation. This disorder causes youu to be short in stature
    • It is also known as dwarfism.
  • Mode of Inheritance

    • What causes the disorder is a mutation in a gene.
    • The gene that is affected is the FGFR3 gene. .
    • The mutation on the number 4 chromosome.
    • Both change one amino acid in the FGFR3 protein.
    • However, because FGFR3 limits bone development, when there is a mutation on the gene, it causes malfunctions in bone growth
    • Cartilage is not properly converted to bone, so there is a shortage of bone
  • Clinical description of Disorder

    • Characteristic features of Achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged appearance.
    • The disease causes many health problems and many pains.
    • Dwarfism causes many health problems and the life expectancy is not very long.
  • Clinical description of Disorder

    • The disorder does not affect your intelligence so you should have no problems in schools. It does affect the way people look at you and it can affect your chances getting your job. Your health care can be more costly because you have many health problems.
    • There are many internal problems associated with the disease and externally you are short and your limbs and body is shaped differently.
    • It can be fatal at birth but it is not always.
    • It is not subject to any ethnicity.
  • Clinical description of Disorder

    • Problems associated with the disease include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In adulthood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Older individuals often have back pain, which can cause difficulty with walking.
    • The disorder is physically limiting.
  • Detection

    • DNA testing through amniocentesis at 15-18 weeks of gestation or chorionic villas sampling at 10-12 weeks
    • Limb shortening can be seen in ultrasound after 22 weeks
    • DNA sequencing of entire coded region, sequencing of select axons, or targeted mutation analysis
    • You can tell if you are a carrier with a DNA test or if you have a child with dwarfism.
  • Treatment

    • There are medicines that can help with the symptoms of dwarfism but there is no cure for this disease.
  • Research

    • There is research being done on mice to be able to better detect the mutation in the gene of the offspring of the mice. There are organizations that support people with dwarfism they include, March of Dimes Birth Defects Foundation, Little People of America, Inc., and Genetic and Rare Diseases (GARD) Information Center.