Acrodysostosis is an extremely rare congenital (present at birth) disorder. It is characterized by abnormally short and malformed bones of the hands and feet, small and underdeveloped nose, and mental retardation. Other findings may include progressive growth delays, short stature, and/or unusual head and facial (craniofacial) features.

Affected infants may exhibit early maturation of bones of the hands and feet, malformation and shortening of the forearm bones (radius and ulna) near the wrist, and/or abnormally short fingers and toes (brachydactyly).

Most of the time, Acrodysostosis occurs as a random, isolated genetic mutation, with no family history. But sometimes the condition is transmitted from parent to child as an autosomal dominant trait -- that is, parents with the condition have a 1 in 2 (50%) chance of passing the disorder on to their children. Advanced paternal age may be a factor with new cases in a family.

• mild to moderate growth deficiency
• mental deficiency in approximately 80% of affected children
• frequent middle ear infections
• 2/3 of patients have hearing deficit

An examination of the infant confirms the symptoms and signs of this disorder:

• widely 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
• may have other abnormalities of the skin, genitals, teeth, and skeleton
• In the first months of life, X-rays may show spotty calcium deposits (stippling) in bones (especially in the nose), short bones, and other distinctive abnormalities.

Treatment depends on what physical and cognitive problems are present.

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

Problems depend on 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 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.

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