定义 acrodysostosis

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar fecies. 更多

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the knuckles of the legs and hands, mental deficiency in approximately 90% of affected children, and peculiar fecies. Other common abnormalities include short head (which is measured front to back i.e. brachycephaly), small broad upturned nose with flat nasal bridge, protruding jaw, Intrauterine growth retardation and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur. Most reported cases have been sporadic, but it has been suggested that the condition might be genetically related i.e. in a autosomal dominant mode of transmission. Both males and females are affected. The disorder has been associated with older parental age. less