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Acrodysostosis

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.

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)

Problems depend on the degree of skeletal involvement and intellectual disability. In general, people do well.

Possible Complications

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

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.

    • Anterior skeletal anatomy

      Anterior skeletal anatomy - illustration

      The skeleton is made up of 206 bones in the adult and contributes to the form and shape of the body. The skeleton has several important functions for the body. The bones of the skeleton provide support for the soft tissues. For example, the rib cage supports the thoracic wall. Most muscles of the body are attached to bones which act as levers to allow movement of body parts. The bones of the skeleton also serve as a reservoir for minerals, such as calcium and phosphate. Finally, most of the blood cell formation takes places within the marrow of certain bones.

      Anterior skeletal anatomy

      illustration

      • Anterior skeletal anatomy

        Anterior skeletal anatomy - illustration

        The skeleton is made up of 206 bones in the adult and contributes to the form and shape of the body. The skeleton has several important functions for the body. The bones of the skeleton provide support for the soft tissues. For example, the rib cage supports the thoracic wall. Most muscles of the body are attached to bones which act as levers to allow movement of body parts. The bones of the skeleton also serve as a reservoir for minerals, such as calcium and phosphate. Finally, most of the blood cell formation takes places within the marrow of certain bones.

        Anterior skeletal anatomy

        illustration

      Review Date: 10/30/2016

      Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. 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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