Acrodysostosis

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Anterior skeletal anatomy

Acrodysostosis

Definition:

Acrodysostosis is an extremely rare congenital (present at birth) disorder. It is characterized by abnormally short and malformed bones of the hands and feet, small and underdeveloped nose, and mental retardation. Other findings may include progressive growth delays, short stature, and/or unusual head and facial (craniofacial) features.

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Affected infants may exhibit early maturation of bones of the hands and feet, malformation and shortening of the forearm bones (radius and ulna) near the wrist, and/or abnormally short fingers and toes (brachydactyly).

Alternative Names:
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Causes, incidence, and risk factors:

Most of the time, Acrodysostosis occurs as a random, isolated genetic mutation, with no family history. But sometimes the condition is transmitted from parent to child as an autosomal dominant trait -- that is, parents with the condition have a 1 in 2 (50%) chance of passing the disorder on to their children. Advanced paternal age may be a factor with new cases in a family.