This extremely rare inherited condition affects the development of bones.
What causes it?
The gene responsible for acrodysostosis has not yet been identified and the condition may result from different genetic problems rather than one specific condition.
It appears to be inherited in an autosomal dominant fashion. This means that if one parent is carrying the gene, they will be normal but there is a one in two chance that any child of theirs will have the condition and seems to be more common among older parents.
What are the symptoms?
People with acrodysostosis have certain bones that mature rapidly, before they've had enough time to grow fully. The bones most often affected are those of the nose and jaw, and the long tubular bones of the hands and feet.
This abnormal bone development results in a collection of characteristic features, including a typical facial appearance (short nose, open mouth and prominent jaw), small hands and feet.
Those with acrodysostosis often have some degree of mental retardation and learning difficulties.
What's the treatment?
There's no cure for acrodysostosis but appropriate support by orthopaedic surgeons and paediatricians is important.
Antenatal diagnosis may be made by ultrasound examination of the bones in babies whose mother has the condition, but routine screening isn't done.
