Acrodysostosis

Acrodysostosis is a rare congenital malformation syndrome. It involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90 percent of affected children, and peculiar facial features. Other common abnormalities include a short head as measured front to back, a small broad upturned nose with a flat nasal bridge, a protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth and skeleton may also occur, so the condition affects several body systems at once and is recognised by this combined pattern rather than by any single finding.