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Acrodysostosis

  • Definition
    • 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.

  • Alternative Names
    • Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

  • 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.

  • Symptoms
    • 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
      • 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
    • Treatment depends on the symptoms.

      Hormones, such as growth hormone, may be given. Surgery to treat bone problems may be done.

  • Outlook (Prognosis)
  • Possible Complications
  • 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
  • Prevention
    • Genetic counseling may be helpful.

  • 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. 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.