Health Encyclopedia

Acrodysostosis

Definition

Acrodysostosis is an extremely rare disorder that is present at birth (congenital). People with this condition have 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. 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

Frequent middle ear infections
Growth problems, short arms and legs
Hearing problems
Mental deficiency
Unusual looking face

Signs and tests

A physical exam confirms this disorder.

Findings may include:

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 (brachycephaly)
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 (hypertelorism), 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 (brachydactyly)
Early growth of bones in the hands and feet
Short bones
Shortening of the forearm bones near the wrist

Treatment

Treatment depends on the physical and mental problems that occur.

Orthopedic care, 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

Arthritis
Carpal tunnel syndrome
Worsening range of movement in the 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

Consider genetic counseling to help with diagnosis, testing, and identifying risk.

Review Date:10/15/2008
Reviewed By:Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the ABGC, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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