Health Encyclopedia

Acrodysostosis

Definition

Acrodysostosis is an extremely rare congenital (present at birth) disorder marked by problems in the bones of the hands, feet, and nose, and mental retardation.

Alternative Names

Arkless-Graham; Acrodysplasia; Maroteaux-Malamut

Causes, incidence, and risk factors

Most patients with acrodysostosis have no family history of the disease. But sometimes the condition is passed down from parent to child as an autosomal dominant trait. That means parents with the condition have a 1 in 2 chance of passing the disorder on to their children.

Symptoms

Mild to moderate growth deficiency
Mental deficiency
Frequent middle ear infections
Hearing problems

Signs and tests

A physical exam confirms the symptoms and signs of this disorder.

Findings may include:

Progressive growth delays
Short stature
Unusual head and facial (craniofacial) features
Wide-spaced eyes (hypertelorism)
Short head, measured front to back (brachycephaly)
Small, upturned broad nose with flat nasal bridge
Protruding jaw
Short arms and legs with deformities of the hands and feet
Problems with the skin, genitals, teeth, and skeleton

In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have short bones, early growth of bones of the hands and feet, shortening of the forearm bones near the wrist, and abnormally short fingers and toes (brachydactyly).

Treatment

Treatment depends on what physical and cognitive problems are present.

Orthopedic care as well as early intervention and special education are recommended.

Expectations (prognosis)

Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.

Complications

Carpal tunnel syndrome
Arthritis
Worsening range of movement of spine, elbows, and hands

Calling your health care provider

Call your health care provider if your child seems to be growing or developing slowly or abnormally, or if you notice physical abnormalities in your infant.

Prevention

Genetic counseling should be considered to help with diagnosis, testing and risk assessment.

Review Date:12/11/2006
Reviewed By:Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.

ADAM Quality A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The Agency for Health Care Administration (Agency) and this website do not claim the information on, or referred to by, this site is error free. This site may include links to websites of other government agencies or private groups. Our Agency and this website do not control such sites and are not responsible for their content. Reference to or links to any other group, product, service, or information does not mean our Agency or this website approves of that group, product, service, or information.

Additionally, while health information provided through this website may be a valuable resource for the public, it is not designed to offer medical advice. Talk with your doctor about medical care questions you may have.