Acromicric Dysplasia


Type of disease: Rare conditions

Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal.  It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner.  The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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