This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement and hip dislocations. Acromicric dysplasia does not affect intelligence or learning. Acromicric dysplasia is caused by genetic variants in the FBN1 gene or the LTBP3 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and imaging studies. Diagnosis may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.
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