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Causes and Symptoms of Acrodysostosis

Posted by sanjay on Tuesday 21 Apr 2009

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Acrodysostosis is a rare, congenital malformation syndrome that involves abnormalities of the knuckles, hands, feet, head, nose, and jaw. It can also involve the skin, genitals, teeth, and skeleton. 90% of children affected with this disorder are also stricken with mental deficiencies, often cumulating into mental retardation and learning difficulties. The disorder affects both males and females.

Causes
The causes of this disorder are not fully understood. It is thought to be inherited as an autosomal dominant trait, although no gene has been identified with this disorder. The disorder may be associated with advanced parental age.

Symptoms of Acrodysostosis
• Abnormally short, malformed bones in hands and/or feet (knuckles, fingers, and/or toes)
• Underdevelopment of nose (often called “pug” nose)
• Progressive growth delays
• Short stature
• Unusual head and facial features
• Mental deficiencies (ranging from mild to moderate mental retardation)
• Middle ear infections (usually frequent)
• Hearing problems

Tests/Exams
A doctor can usually confirm the signs and symptoms of this disease through a physical exam. X-rays performed on young infants may show the presence of stippling in the bones of their noses. In addition, their forearm bones may be shortened near the wrist area.

Treatment
Treatment is dependent upon the individual problems that are found (physical/cognitive).
Early intervention, orthopedic care, and special education services will help bring about improved results in some cases.

Complications
• Arthritis
• Carpal Tunnel Syndrome
• Worsening movement problems with hands, spine, and elbows

Prevention
Although there is no known way to prevent this defect, there is help available to families affected by this disorder in the form of genetic counseling and support groups.

Prognosis
Patients usually do quite well as long as they receive the recommended treatment. Future problems usually depend upon the degree of skeletal involvement and the severity of mental retardation.