Acrodysostosis
Definition
Acrodysostosis is an extremely rare disorder that is present at birth (congenital). People with this condition have problems in the bones of the hands, feet, and nose, and mental retardation.
Causes
Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.
There is a slightly greater risk with fathers who are older.
Symptoms
- Frequent middle ear infections
- Growth problems, short arms and legs
- Hearing problems
- Mental deficiency
- Unusual looking face
Treatment
Treatment depends on the physical and mental problems that occur.
Orthopedic care, early intervention, and special education are recommended.
Prognosis
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.
Prevention
Consider genetic counseling to help with diagnosis, testing, and identifying risk.