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Schimke Immuno-osseous Dysplasia

Abstract

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NORD is very grateful to Thomas Lücke, MD, PhD, Department of Neuropediatrics Children's Hospital, University of Bochum, Bochum, Germany, for assistance in the preparation of this report.

Synonyms of Schimke Immuno-osseous Dysplasia

immunoosseous dysplasia, Schimke type
SIOD

Disorder Subdivisions

No subdivisions found.

General Discussion

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder that is inherited in an autosomal recessive pattern. It usually manifests first with growth failure. Other features of the disease are generally noted in the ensuing evaluation of the growth failure or develop in the following years. According to the severity of the clinical features and the age of onset, SIOD has been divided into an infantile or severe early-onset form and a juvenile or milder late-onset form. Affected individuals with early-onset manifest severe symptoms and have a mean age of death at 9.2 years. These individuals have died from strokes, severe opportunistic infections, bone marrow failure, complications of kidney failure, congestive heart failure, and unspecified lung disease. On the other hand, those with milder disease have survived into the fifth decade if symptomatically treated. However, severity and age of onset of symptoms do not invariably predict survival as a few of those with early-onset disease have survived into the third and forth decade.

Organizations related to Schimke Immuno-osseous Dysplasia

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