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

Causes

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

Exams 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.

Outlook (Prognosis)

Problems depend on the degree of skeletal involvement and mental retardation

Possible Complications

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

When to Contact a Medical Professional

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.