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.
Causes of Acrodysostosis
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
Tests and Exams
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
- Short height
- Small, upturned broad nose with flat bridge
- Unusual features of the face (short nose, open mouth, jaw that sticks out)
- Unusual head
- 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:
- Abnormally short fingers and toes
- Early growth of bones in the hands and feet
- Short bones
- Shortening of the forearm bones near the wrist
Two genes have been linked with this condition, and genetic testing may be done.
Treatment of Acrodysostosis
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:
When to Contact a Health Professional
Call your health care provider if your infant or child does not seem to be growing or developing properly.
Prevention of Acrodysostosis
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.
|Review Date: 11/25/2014
Reviewed By: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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