Definition of Acrodysostosis:

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.

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.