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Chondrodysplasia Punctata is a skeletal abnormality and is considered a hereditary disorder. This disorder affects young children and infants. It is characterized by punctate calcification of the larynx, cartilage of the epiphyses and trachea. There are different forms of this disorder. The form that that consists of an autosomal recessive trait being inherited is the most common form. The form known as Conradi-Hunermann Syndrome is also inherited, but in a recessive and dominant X-linked way. This condition is hereditary so if there is a family history of this condition, it is highly recommended that parents seek genetic counseling before they try to conceive a child. This disorder is caused by a peroxisomal dysfunction.
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What are the Symptoms?
This symptoms of Chondrodysplasia Punctata are pretty easily recognized. The X-linked recessive form of this condition does affect both sexes however, the symptoms experienced by females tend to be less pronounced than the symptoms experienced by males. The symptoms of this disorder include patches of dry and coarse hair, growth retardation, large pores, shortening of limbs, scaly and dry skin and cataracts. In some cases, children with this disorder can become mildly retarded.
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Diagnosing this disorder is relatively easy. The doctor will first take a complete family medical history and ask about the child's symptoms. They will then perform a complete physical exam. Once these are done they will draw blood to check the child's plasmalogen levels. If the plasmalogen levels are extremely low, the child has this disorder. A skin biopsy will them be performed to determine what type of this condition the child has.
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How is This Disorder Treated?
Chondrodysplasia Punctata is incurable, but it can be managed. Orthopaedic and physical therapy is a very common part of the management program and it helps some children remain mobile. Children with feeding issues will see a GI doctor regularly to help improve their ability to eat and keep food down. Children with eye problems, specifically cataracts, will see an eye doctor to monitor their vision and to have their cataracts removed. Children who experience hearing problems will need to have their hearing tested regularly and can get hearing aids or tubes in their ears by an ear, nose and throat doctor.
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Rhizo Kids. (2009). What is Chondrodysplasia Punctata? Retrieved on July 26, 2009 from Website: http://www.rhizomelicchondrodysplasiapunctata.com/
The Tyler Medical Clinic. (2004). Chondrodysplasia Punctata. Retrieved on July 26, 2009 from Website: http://www.tylermedicalclinic.com/chondrodysplasia%20punctata.htm