acrodysostosis

A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency.

Signs and symptoms

• Short metacarpal
• Mild global developmental delay
• Elevated circulating parathyroid hormone level
• Midface retrusion
• Decreased growth hormone responses to growth hormone-releasing hormone challenge
• Hyperphosphatemia
• Hypoplasia of the maxilla
• Accelerated skeletal maturation
• Brachydactyly
• Short metatarsal