Acrodysostosis: Causes, Symptoms, Diagnosis and Treatments

Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, mental deficiency in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head (as measured front to back i.e. brachycephaly), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, Intrauterine growth retardation, juvenile arthritis 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.

Causes of Acrodysostosis

Acrodysostosis is thought to be a genetic disorder though the real causes have not been identified. There can be a number of genetic problems behind its occurrence. It is known to happen more with the older parents. In most of the case, the disease has no hereditary routes. But in certain cases, it can be passed down to the kid from the parents. Parents who suffer from this disorder have a 50% possibility of transmitting the disease to the children. However, the exact genes that cause this disorder have not been identified.

Acrodysostosis Symptoms

• Frequent middle ear infections
• Growth problems, short arms and legs
• Hearing problems
• Mental deficiency
• Unusual looking face