Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
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.
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 doesn't respond to certain hormones, even though hormone levels are normal
- Unusual looking face
Exams and Tests
The 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.
Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.
Acrodysostosis may lead to:
When to Contact a Medical Professional
Call your child's provider if signs 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
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. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:560-593.
Silve C, Clauser E, Linglart A. Acrodysostosis. Horm Metab Res. 2012;44(10):749-758. PMID: 22815067 www.ncbi.nlm.nih.gov/pubmed/22815067.