Question: what is the disorder achondroplasia

Reference:
 Typhoid fever Enteric fever Summary Typhoid fever is an infection that causes diarrhea and a rash. It is most commonly caused due to a bacteria called <em>Salmonella typhi</em> (<em>S typhi</em>). Causes <em>S typhi</em> is spread through contaminated food, drink, or water. If you eat or drink something that is contaminated with the bacteria, the bacteria enter your body. They travel into your intestines, and then into your blood. In the blood, they travel to your lymph nodes, gallbladder, liver, spleen, and other parts of the body. Some people become carriers of <em>S typhi</em> and continue to release the bacteria in their stools for years, spreading the disease. Typhoid fever is common in developing countries. Most cases in the United States are brought in from other countries where typhoid fever is common. Symptoms Early symptoms include fever, general ill-feeling, and abdominal pain. High fever (103F, or 39.5C) or higher and severe diarrhea occur as the disease gets worse. Some people develop a rash called "rose spots," which are small red spots on the abdomen and chest. Other symptoms that occur include: Bloody stools Chills Agitation, confusion, delirium, seeing or hearing things that are not there (hallucinations) Difficulty paying attention (attention deficit) Nosebleeds Severe fatigue Slow, sluggish, weak feeling Exams and Tests The health care provider will perform a physical exam and ask about the symptoms. A complete blood count (CBC) will show a high number of white blood cells. A blood culture during the first week of the fever can show <em>S typhi</em> bacteria. Other tests that can help diagnose this condition include: ELISA blood test to look for antibodies to the <em>S typhi</em> bacteria Fluorescent antibody study to look for substances that are specific to <em>S typhi</em> bacteria Platelet count (platelet count may be low) Stool culture Treatment Fluids and electrolytes may be given by IV (into a vein) or you may be asked to drink water with electrolyte packets. Antibiotics are given to kill the bacteria. There are increasing rates of antibiotic resistance throughout the world, so your provider will check current recommendations before choosing an antibiotic. Outlook (Prognosis) Symptoms usually improve in 2 to 4 weeks with treatment. The outcome is likely to be good with early treatment, but becomes poor if complications develop. Symptoms may return if the treatment has not completely cured the infection. Possible Complications Health problems that may develop include: Intestinal hemorrhage (severe GI bleeding) Intestinal perforation Kidney failure Peritonitis When to Contact a Medical Professional Contact your provider if you have any of the following: You know you have been exposed to someone who has typhoid fever You have been in an area where there are people who have typhoid fever and you develop symptoms of typhoid fever You have had typhoid fever and the symptoms return You develop severe abdominal pain, decreased urine output, or other new symptoms Prevention A vaccine is recommended for travel outside of the United States to places where there is typhoid fever. The Centers for Disease Control and Prevention website has information about where typhoid fever is common -- www.cdc.gov/typhoid-fever/index.html. Ask your provider if you should bring electrolyte packets in case you get sick. When traveling, drink only boiled or bottled water and eat well-cooked food. Wash you hands thoroughly before eating. Water treatment, waste disposal, and protecting the food supply from contamination are important public health measures. Carriers of typhoid must not be allowed to work as food handlers. Review Date 5/18/2017 Updated by: Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. 

Answer: Achondroplasia is a disorder of bone growth that prevents the changing of cartilage (particularly in the long bones of the arms and legs) to bone. It is characterized by dwarfism, limited range of motion at the elbows, large head size, small fingers, and normal intelligence. Achondroplasia can cause health complications such as apnea, obesity, recurrent ear infections, and lordosis of the spine. Achondroplasia is caused by mutations in the FGFR3 gene. It is inherited in an autosomal dominant fashion.