Acrodysostosis
Arkless-Graham; Acrodysplasia; Maroteaux-MalamutAcrodysostosis 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.
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Causes
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.
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Symptoms
Symptoms of this disorder include:
- Frequent middle ear infections
- Growth problems, short arms and legs
- Hearing problems
- Intellectual disability
- The body doesn't respond to certain hormones, even though hormone levels are normal
- Distinct facial features
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Exams and Tests
The health care provider can usually diagnose this condition with a physical exam. This may show any of the following:
- 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
- Distinct 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.
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Treatment
Treatment depends on the symptoms.
Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.
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Support Groups
These groups can provide more information on acrodysostosis:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/acrodysostosis
- NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5724/acrodysostosis
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Outlook (Prognosis)
Problems depend on the degree of skeletal involvement and intellectual disability. In general, people do well.
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Possible Complications
Acrodysostosis may lead to:
- Learning disability
- Arthritis
- Carpal tunnel syndrome
- Worsening range of movement in the spine, elbows, and hands
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When to Contact a Medical Professional
Contact your child's provider if signs of acrodystosis develop. Make sure your child's height and weight are measured during each well-child visit. The provider may refer you to:
- A genetic professional for a full evaluation and chromosome studies
- A pediatric endocrinologist for management of your child's growth problems
References
Jones KL, Jones MC, del Campo M. Other skeletal dysplasias. In: Jones KL, Jones MC, del Campo M, eds. Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia, PA: Elsevier; 2022:600-637.
National Organization for Rare Disorders website. Acrodysostosis. rarediseases.org/rare-diseases/acrodysostosis. Updated August 13, 2014. Accessed November 28, 2022.