Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies. More detailed information about the symptoms, causes, and treatments of Acromicric dysplasia is available below.
See full list of 23 symptoms of Acromicric dysplasia
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Types of Acromicric dysplasia
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A syndrome characterized by a smiling or happy facial expression (hence the adjective "geleophysic" from Greek gelios, laughing + physis, nature), short stature, brachydactyly, and dysostosis multiplex-like changes in the hands and feet. Infiltration of heart valves and liver with mucopolysaccharide-like substance has been demonstrated in some patients. Mild developmental delay is associated in some cases, but speech retardation may be attributed to hearing problems. Psychomotor retardation is an occasional feature. - (Source - Diseases Database)
Acromicric dysplasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Acromicric dysplasia, or a subtype of Acromicric dysplasia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Acromicric dysplasia as a "rare disease".
Source - Orphanet
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