Acrodysostosis seems to be associated in some cases with advanced parental age.
Acrodysostosis is an extremely rare congenital malformation syndrome which involves shortening of the knuckles of the legs and hands, in approximately 90% of affected children, and peculiar fecies. Most patients with acrodysostosis have no family history of the disease. But sometimes the condition is passed down from parent to child as an autosomal dominant trait. That means parents with the condition have a 1 in 2 chance of passing the disorder on to their children. Affected infants may exhibit premature maturation of bones of the hands and feet, malformation and shortening of the forearm bones near the wrist, and abnormally short fingers and toes. Other findings may include progressive growth delays, short stature, and unusual head and facial features. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Both males and females are affected from this disorder. The disorder has been associated with older parental age. A person dealing with Acrodysostosis will usually present with a unique condition-type facial appearance consisting of a prominant jaw, small nose, open mouth, as well as having smaller than normal hands and feet. Learning disabilities may also be present with this condition. It may be inherited as an autosomal dominant trait in some cases, although no gene has yet been identified with this disorder. Those with acrodysostosis often have some degree of mental retardation and learning difficulties.
Responsible gene for this extremely rare disorder has not yet been identified and the condition may result from different genetic problems rather than one specific condition. Genetic counseling should be considered to help with diagnosis, testing and risk assessment. Treatment depends on what physical and cognitive problems are present. There is a prenatal test that can be done to test for the presence of the condition. Other than that, there is no cure as of yet. Tutoring individuals that also have a learning disability is one way of dealing with that facet of the disorder if it is present. Orthopedic care as well as early intervention and special education are recommended. Antenatal diagnosis may be made by ultrasound examination of the bones in babies whose mother has the condition, but routine screening isn't done.
