Hand and foot abnormalities associated with genetic diseases.

Abstract

The small bones and soft tissues of the hands and feet can be affected by systemic disorders, and frequently, the findings are quite unique and virtually diagnostic for some genetic or metabolic disorders. Photographs and imaging studies for the hands and feet are available in a digitized system, which has been approved by our hospital institutional review board. Examination of these and their description can establish a relationship with some degree of certainty to a series of highly variable and uncommon clinical disorders. Description of the clinical, physiologic and genetic characteristics, and illustrations of hand and foot abnormalities are provided for an array of diseases, including Ellis-van Creveld syndrome, fibrodysplasia ossificans progressiva, achondroplasia, Kniest dysplasia, pseudo- and pseudo-pseudohypoparathyroidism, acromegaly, nail-patella syndrome, Marfan's disease, cartilage-hair hypoplasia, and several forms of mucopolysaccharidosis. The findings support the concept that many genetic disorders can often be diagnosed by clinical and imaging examination of the patient's hands and feet.