Acrodysostosis is an extremely rare disorder that is present at birth (congenital). It leads to problems with the bones of the hands, feet, and nose, and intellectual disability.
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Most people 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 of this disorder include:
- Frequent middle ear infections
- Growth problems, short arms and legs
- Hearing problems
- Mental deficiency
- The body being resistant to certain hormones, even though hormone levels are normal
- Unusual looking face
Exams and Tests
Your health care provider can usually diagnose this condition with a physical exam. This may show:
Advanced bone age
Bone deformities in hands and feet
Delays in growth
Problems with the skin, genitals, teeth, and skeleton
Short arms and legs with small hands and feet
Short head, measured front to back
Small, upturned broad nose with flat bridge
Unusual features of the face (short nose, open mouth, jaw that sticks out)
Wide-spaced eyes, sometimes with extra skin fold at corner of eye
In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:
Two genes have been linked with this condition, and genetic testing may be done.
Treatment depends on the symptoms.
Orthopedic care, early intervention, and special education are recommended.
Problems depend on the degree of skeletal involvement and intellectual disability. In general, people do relatively well.
Acrodysostosis may lead to:
- Carpal tunnel syndrome
- Worsening range of movement in the spine, elbows, and hands
When to Contact a Medical Professional
Call your health care provider if your infant or child does not seem to be growing or developing properly.
Genetic counseling may be helpful.
Linglart, A., Menguy, C., Couvineau, A., et al. Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. New Eng. J. Med. 2011;364: 2218-2226.