Acrodysostosis is an inherited disease, but the specific gene is unknown at this time. It is inherited in a dominant fashion (no generation skipping), and both sexes are affected. The disorder tends to occur with older parental age.

• mild to moderate growth deficiency
• mental deficiency in approximately 80% of affected children
• short head, measured front to back (brachycephaly)
• small, broad, upturned nose with flat nasal bridge
• protruding jaw
• frequent middle ear infections
• short arms and legs with deformities of the hands and feet
• may have other abnormalities of the skin, genitals, teeth, and skeleton (sometimes)
• 2/3 of patients have hearing deficit

Examination of the infant confirms the symptoms and signs of this disorder.

In the first months of life X-rays may show spotty calcium deposits (stippling) in bones.

There is no treatment or cure for this syndrome. The child should be followed by a medical professional, and referral to a geneticist (specialist in inherited diseases) should be recommended.

Problems are relative to the degree of skeletal involvement and mental retardation. In general, patients do relatively well.

• carpal tunnel syndrome
• arthritis
• progressive limitation of range of movement of spine, elbows, and hands may occur

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

There are no specific preventive measures for acrodysostosis. Consultation with an orthopedist and podiatrist may prevent progression of skeletal problems by appropriate braces, shoes, and early surgery.