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What are the Symptoms of Achondroplasia?

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  • Written By: Matt Brady
  • Edited By: Jenn Walker
  • Last Modified Date: 11 October 2018
  • Copyright Protected:
    2003-2018
    Conjecture Corporation
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Symptoms of achondroplasia, a form of dwarfism, include short arms, short legs, and an enlarged head. Not only do people with achondroplasia have a shorter stature than others, but their bodies are also disproportionate, with average to long torsos contrasted by very short, bowed limbs. The condition is a bone disorder, which causes affected individuals to experience physical ailments, such as spinal stenosis. People may also experience other health problems, such as ear infections, breathing disorders, and obesity.

While some symptoms of achondroplasia can be treated, there is little that can be done about a short stature. Individuals with achondroplasia almost never grow taller than 5 feet (about 1.5 meters). The limbs may be chronically bowed as a result of deficiencies in bone mass and muscle tissue. Arms and legs also seem out of proportion with the torso. The head, particularly the forehead, tends to be enlarged as well. Some individuals may elect for bone surgeries that help correct and even elongate bone growth, but such procedures don't ultimately cure short stature, and may cause further complications.

Obesity is one of the most common symptoms of achondroplasia. Without treatment, obesity in achondroplastic individuals can be debilitating; an already weak bone and muscle support system can easily be damaged by excessive weight. Doctors treating patients with achondroplasia keep a close eye on patients' weight gain, and ensure that measures are being implemented to prevent obesity from occurring.

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Regular ear infections are another one of the most common symptoms of achondroplasia. For the most part, ear infections are more painful than they are dangerous, but they can cause hearing damage if left untreated. Ear infections are often treated with antibiotics, and ear tubes may be inserted to help prevent infections.

Other symptoms of achondroplasia often include obstructive sleep apnea, a sleep disorder characterized by periods during which the sleeper stops breathing. The loss of breath isn't long enough to be fatal, usually 30 seconds at most, but it can be severely disruptive to sleep, which can lead to other complications. To prevent apnea-induced breathing disorders, doctors may elect to free up airflow by removing the tonsils and adenoids. Doctors may also recommend the use of a nasal mask.

The disproportion of the head can result in other complications, such as craniosynostosis and hydrocephalus. Craniosynostosis is characterized by a premature closing of the skull, which can increase the extent of physical deformity and cause brain damage; brain complications can be prevented with a timely surgery. Hydrocephalus, also known as water on the brain, occurs in infants who have too much spinal fluid in the brain.

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