ACROMICRIC DYSPLASIA: WHAT IS ACROMICRIC DYSPLASIA?
Definition: What is "Acromicric Dysplasia"?
Acromicric dysplasia is a very rare inherited illness that is often characterized by unusually short feet & hands, retardation of the patient's growth & delays on bone maturation which lead to short stature & 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' & '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) & Focal mucopolysaccharidosis.
Symptoms & 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); & multiplex-like alterations on the feet & 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 & liver being infiltrated with a mucopolysaccahride-like substance. This disorder has some similarities with other illnesses such as Moore-Ferdermann syndrome & geleophysic dysplasia. All three are characterized by the symptoms that have been previously mentioned & this is an indication that they have the same metabolic pathway. The difference is on the allelic forms of the illnesses.
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.
It was in 1985 that a new type of bone dysplasia (which is acromicric dysplasia) has been observed. This was based on six patients & each of them had most of the symptoms of the illness. Roentgenograms of the feet & hands showed all the signs of geleophysic dwarfism. It has been observed that both sexes can be affected by the disorder & that it can be degenerative in nature.