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Acrodysostosis Causes

Most of the patients that are afflicted with acrodysostosis do not have a family history of the illness. Sometimes, though, the disease can be inherited by the child from its parent as an autosomal dominant trait which means that the parents have the condition and they have passed it on to their offspring (even when the condition is apparent with just one of the two parents, this illness could still be inherited). Although it is now clear that the illness is caused by an inherited condition, to this day, the specific gene that causes the disease is still unrecognized.

Acrodysostosis Definition

Acrodysostosis also known as acrodysplasia, Arkless-Graham, or Maroteaux-Malamut is defined as a very rare inborn skeletal illness which is marked by defects on the bones of feet, hands, and the nose. Retardation of the patient's learning and mental development is a common occurrence.

Acrodysostosis Symptoms and Signs

The most common characteristics of acrodysostosis are: mild to average growth retardation; mental defect; hearing defects; and recurrent infections of the middle ear. The most probable complications include: arthritis; carpal tunnel syndrome; and a worsening range of spinal, elbow or hand movements.

Acrodysostosis Testing

A thorough physical examination would confirm the signs and symptoms of this illness. The findings could include: short stature; growth delays that can progress; hypertelorism or eyes that are wide-spaced; abnormal facial and head (craniofacial) features; a small and abnormally upturned nose which is characterized by a nasal bridge that appears flat; legs and arms that are shortened by defects of the feet and hands; defects on the genitals, skin, skeleton, and teeth; and protrusion of the jaw. X-rays, on the first few months of life, could show stippling or mottled calcium deposits (especially on the nose). Infants may manifest short bones, an early growth of the hand and feet bones; shortened bones of the forearm (which are near the wrist); and unusually short toes and fingers also called brachydactyly.

Acrodysostosis Treatment

The treatment depends greatly on the physical or cognitive defects that are present. Orthopedic treatment and early intervention that are accompanied with special education is highly recommended by most physicians. Genetic counseling could be done to aid with the diagnosis, assessment of the risks, and also testing. It is highly advised that the health care provider be contacted immediately when the parents notice retardation on their child's growth or development. Any other forms of infant abnormalities should also be given immediate medical attention.

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