Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies.
Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature.
[10] Management of acrodysostosis typically focuses on addressing specific symptoms that occur in each individual and may include surgery, physical therapy and special education.
A number of transgenic mouse models have been generated that harbour genetic mutations within genes linked to the condition in humans.
[11] The actress Olivia Colman partnered with the charity Acrodysostosis Support and Research to raise awareness for the disease.