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Acromicric Dysplasia



Acromicric Dysplasia Case Study


It was in 1985 that a new type of bone dysplasia (which is acromicric dysplasia) has been observed. This was based on six patients and each of them had most of the symptoms of the illness. Roentgenograms of the feet and hands showed all the signs of geleophysic dwarfism. It has been observed that both sexes can be affected by the disorder and that it can be degenerative in nature.


Acromicric Dysplasia Definition


Acromicric dysplasia is a very rare inherited illness that is often characterized by unusually short feet and hands, retardation of the patient's growth and delays on bone maturation which lead to short stature, and mild abnormalities of the face. The face often appears with a happy or ‘smiling' expression thus the descriptive word geleophysic which is derived from the Greek word ‘gelios' which means ‘laughing' and ‘phylis' meaning ‘nature'. Most of the number of cases for this illness has occurred in random for no obvious reason (sporadic). It has not been ruled out, though, that this is an autosomal dominant inherited disorder. The disease database clearly indicates that acromicric dysplasia is similar to Geleophysic dwarfism (also known as Geleophysic dysplasia) and Focal mucopolysaccharidosis.


Acromicric Dysplasia Prevalence


This disorder is estimated to have affected less than 200,000 of American individuals that is why it remains a rare illness as categorized by the Office of Rare Disease or ORD of the National Institutes of Health in the United States. ORD’s European counterpart which is Orphanet has also classified acromicric dysplasia as a rare illness since it is estimated to occur in 1 out of every 2,000 individuals.


Acromicric Dysplasia Symptoms and Signs


Aside from the smiling expression which remains on the face, other symptoms of the illness include having short stature; brachdactyly; delays on the development of the patient; speech retardation (which could be attributed to hearing problems); and multiplex-like alterations on the feet and hands (also known as dysostosis). Psychomotor retardation is not a common occurrence but it is still considered as one of the symptoms of acromicric dysplasia. All though there are a lot of retardation in different anatomical aspects, the intelligence of the patient remains intact, meaning, they manifest normal intelligence. There are some patients who show signs of the heart valves and liver being infiltrated with a mucopolysaccahride-like substance. This disorder has some similarities with other illnesses such as Moore-Ferdermann syndrome and geleophysic dysplasia. All three are characterized by the symptoms that have been previously mentioned and this is an indication that they have the same metabolic pathway. The difference is on the allelic forms of the illnesses.


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