Achondroplasia Darsh Panchal

Achondroplasia Background

Achondroplasia, also referred to as craniosynostosis, is a disorder that affects bone growth. Achondroplasia is short-limbed dwarfism, meaning that a person will have a short stature as an adult. Achondroplasia is the most common out of proportionate short stature. The literal term for achondroplasia is "without cartilage formation". Cartilage is a well built but flexible tissue that creates a lot of the skeleton in early development. Cartilage is supposed to turn into bone. For all that, achondroplasia is the complication of forming bone rather than cartilage. Cartilage is not being formed, and this causes the short stature the patients have if they are diagnosed with achondroplasia.

Gene

The gene that the mutation occurs in is FGFR3.

Protein Produced by FGFR3

The protein that is being produced by FGFR3 is Fibroblast growth factor receptor 3.

Discovery

Achondroplasia was discovered on July 30, 1994 at the University of California. Dr. Wasmuth said the discovery had to do a lot with luck and the amount of effort he and his team put in the research. The team discovered that their was a little bit of incorrect information in the gene FGFR3, that produces a normal hip, but short limbs.

Incident Rate

The incident rate of achondroplasia in the U.S. is, 15,000 to 1 in 40,000 births.

Affected More Than Others

There is not a specific ethnicity or gender that have a higher chance to gain achondroplasia. As you will see in this presentation, their is a 50% chance that the offspring of a parent who has achondroplasia will get it. A child with both parents that have achondroplasia has a 75% chance of getting achondroplasia. We can conclude that a person with a history of achondroplasia has a greater chance of getting it, but their is not specific gender or ethnicity that is affected with achondroplasia than others.

Symptoms

Their are many symptoms of achondroplasia. One main symptom of achondroplasia is a short stature. Another symptom is having a large head, or macrocephaly. Infants with this disorder will have weak muscle tones, this is also called hypotonia. Due to hypotonia, there may be delays in walking and other motor skills. Commonly, children diagnosed with achondroplasia will have trouble breathing, like when breathing will stop or slow down for a period of time. Also, specific facial features like a prominent forehead (frontal bossing) and mid-face hypoplasia occur when someone has achondroplasia.

How is it Diagnoses

Achondroplasia is diagnosed by clinical and X-ray findings. For a person who is too young to be diagnosed with certainty or a person who does not show the symptoms that are usual, genetic testing can be done to see if the gene FGFR3 is mutated. Genetic testing identifies 99 percent of achondroplasia in an individual. This genetic testing is available in clinical laboratories.

Treatments

To this day, there are no clear treatment for achondroplasia. Since the severity varies of each case, their is not clear treatment. Children born with achondroplasia need to be monitored at great lengths. Children need to have their weight, height, and head circumference monitored using special growth curves made for achondroplasia. To avoid obesity, doctors recommend measures that prevent it. For evaluation for hypotonia or signs of spinal cord compression, a magnetic resonance imaging (MRI) or CT scan may be needed. If the person has trouble breathing, surgical removal of the adenoids and tonsils may be needed for continuous positive airway pressure (CPAP) by a nasal mask, or a surgical opening in the airway (tracheostomy) may be needed to correct obstructive sleep apnea.

Prognosis

The prognosis of a patient with this disorder really depends of their personal diagnoses and the symptoms they have. A prognosis of a rare type of achondroplasia would be harder to predict since their have been a limited amount of people with it. If a child has two copies of the mutated gene from each parent then he or she will only live a few weeks or months after birth. If the child has one copy of the mutated gene then they will live a normal life span and intelligence.

Genetic Pattern of Inheritance

A good number of cases of achondroplasia are not inherited. 80% of achondroplasia is not inherited. Although, a child has a 50% chance of inheriting achondroplasia if the parent attains it. If both parents have it, then the child has a 75% chance of getting it. This occurs in an autosomal dominant pattern. If both the parents have the disorder than the child will usually have a serious form of achondroplasia that causes a great amount of shortening of the bones and an underdeveloped rib cage. The child will only live a few weeks or months after birth.

Research

Currently the NHGRI is doing studies on families and patients with the disease, to develop new and more efficient treatments and tests. People with the disorder are encouraged to participate and help with the research of achondroplasia, to make better tests and treatments. The NHGRI is trying to study the Muenke Syndrome, which is when one or more of the suture between the bones of the skull close before birth. This is beneficial to my patient, Morgan, since she has the problem. The research the NHGRI is doing is going to help many patients diagnosed with this problem.

Citations

Bones of the Body. Virtual Medical Centre, 28 Dec. 2003, www.myvmc.com/. Accessed 4 Feb. 2017.

"Genetic Defect for a Type of Dwarfism Is Found." The New York Times, New York Times Company, 31 July 1994, www.nytimes.com/. Accessed 4 Feb. 2017.

Idera Pharmaceuticals. Chromosomes. Idera, 2015, www.iderapharma.com/. Accessed 5 Feb. 2017.

IStockphoto LP. DNA molecules. How Stuff Works, 13 May 2008, health.howstuffworks.com/. Accessed 5 Feb. 2017.

John Hopkins Department of Orthopedic Surgery, and MEDLINE Plus. "Achondroplasia." Virtual Medical Centre, www.myvmc.com/. Accessed 5 Feb. 2017.

National Human Genome Research Institute: Communications and Public Liaison Branch, and U.S. National Library of Medicine: Office of Communications and Public Liaison. "Achondroplasia." Genetics Home Reference, U.S. National Library of Medicine, 31 Jan. 2017, ghr.nlm.nih.gov. Accessed 3 Feb. 2017.

Pandey, Vipin. Type of disease in the body. Build Healthy Body, 19 Mar. 2015, www.buildhealthybody.com/. Accessed 3 Feb. 2017.

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