Brachydactyly Tibial Hypoplasia

Overview

Type of disease: Rare conditions

Brachydactyly Tibial Hypoplasia is a rare combination of birth defects, or a syndrome. This syndrome is characterized by short fingers and toes, and underdeveloped or missing shin bone. Symptoms include joint pain (arthritis), fluid-filled holes in the bones (bone cysts), irregular finger length or shape, decreased bone mass (osteoporosis), restricted joint mobility, abnormal spine curvature (scoliosis), asymmetrical lower legs, and short stature. This syndrome is treated on a case-by-case basis, and depends on the specific birth defects present.

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