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By Margot Schulpen
During early fetal development, much of the skeleton is made up of cartilage. Normally, most cartilage converts to bone. However, in people with dwarfism, a lot of the cartilage does not convert. This is caused by mutations in the FGFR3 gene.
The FGFR3 gene instructs the body to make a protein necessary for bone growth and maintenance. The mutations cause the protein to be overactive. This interferes with normal bone development.
Some symptoms for Achondroplasia are abnormal hand appearance with small spaces between the middle and ring fingers, Bowed legs, Decreased muscle tone, Disproportionately large head-to-body size , large forehead, Shortened arms and legs (especially the upper arm and thigh), Short in height (significantly below the average height for a person of the same age and sex)and a curved spinal cord. At birth, a child with this condition will likely be shorter than most babys, have very short arms and legs and an underdeveloped face.
Many projects have started in the last five years to raise money for research to find cures. An example is the Vision project by an online magazine called witness. It raises awareness about the disease and raises money for medical treatment, research and medical fees. It is a magazine that shows real life photos and stories about children with achondroplasia, it explains the difficulties, the symptoms and how people can help. It is a great project that can help many young children with achondroplasia in the future. Vision Project is an organization dedicated to the development of investigative journalism, documentary photography, multimedia, film, and education. The goal of Vision Project is to produce documentary material and educational programs that encourage understanding and awareness about a broad variety of social issues. The vision project is not the only organisation out there that is raising awareness, there are many others but the Vision Project is the most known.
Achondroplasia is a bone growth disorder that causes disproportionate dwarfism. Dwarfism is defined as a condition of short stature as an adult. People with achondroplasia are short in stature with a normal sized torso and short limbs. Achondroplasia is the most common type of disproportionate dwarfism.
The disorder occurs in approximately one in 25,000 live births, according to the Children’s Hospital of Philadelphia. It is as common in males as females.
The availability of somatotropin (recombinant human growth hormone) has revolutionized the treatment of short stature. Growth hormone is currently being used to change the height of patients with achondroplasia. The greatest acceleration in growth is seen during the first year of treatment and in those with the lowest height before treatment. However, no long-term studies exist to determine final height, nor do any randomized controlled studies exist to justify prolonged treatment with growth hormone in patients with short stature.Beign treated at the youngest age possible shos the best results (1-6 years old) and is recommended for maximum benefits.
In 1994 Dr. John Wasmuth and his colleagues discovered that a mutation of the fibroblast growth factor receptor-3 (FGFR3) gene on human chromosome 4 causes achondroplasia.
As early as 1912 it was noted that new cases were more often last-born than first-born children. This fits with the fact that the chance of an achondroplastic birth has been shown to increase with paternal age (age of the father).
In more than 80 percent of cases, achondroplasia is not inherited. These cases of achondroplasia are caused by spontaneous mutations in the FGFR3 gene.About 20 percent of cases are inherited. The mutation follows an autosomal dominant inheritance pattern. This means that only one parent needs to pass down a defective FGFR3 gene for a child to have achondroplasia.If one parent has the condition, the child has a 50 percent chance of getting it. If both parents have the condition, the child has: a 25 percent chance of being a normal height , a 50 percent chance of having one defective gene, causing achondroplasia, and a 25 percent chance of inheriting two defective genes. This results in a fatal form of achondroplasia called homozygous achondroplasia. Infants with this condition are generally stillborn or die within a few months of birth.
Although there is no statistics showing the final height that a child with achondroplaisa will grow to, there is an everage height. The average height for adults with achondroplasia is 4 feet, 4 inches for males and 4 feet, 1 inch for females. It is rare for an adult with achondroplasia to reach 5 feet in height.
According to NYU Langone Medical Center, most people with achondroplasia have a normal life span. However, there is a slightly increased risk of death during the first year of life. There may also be an increased risk of heart disease later in thier life.
People with achondroplasia may need to make some physical adaptations, such as avoiding impact sports that could damage the spine. However, they can still grow up and have a full and interesting life.
Your doctor may diagnose your child with achondroplasia while you are pregnant or after your infant is born.
Diagnosis During Pregnancy: Some characteristics of achondroplasia are detectable during an ultrasound. These include hydrocephalus or an abnormally large head. If your doctor suspects achondroplasia, genetic tests may be ordered. This tests look for the defective FGFR3 gene in a sample of amniotic fluid. Diagnosis After Your Child is Born: Your doctor can diagnose your child by looking at his or her features. The doctor may also take X-rays to measure the length of your childs bones. This can help confirm a diagnosis. Blood tests may also be taken to look for the defective FGFR3 gene.