D2I2.
genetic

Aicardi–Goutières syndrome

Aicardi–Goutières (AGS), which is completely distinct from the similarly named Aicardi syndrome, is a rare, usually early onset childhood, disorder most typically affecting the brain and the skin. The majority of affected individuals experience significant intellectual and physical problems, although this is not always the case. The features of AGS can mimic those of in utero acquired , and some characteristics of the condition also overlap with the disease lupus erythematosus (SLE). Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi–Goutières syndrome' (AGS) in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001.

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Symptoms — what it feels like

  • ·spacicity, chilblains, microcephaly, intellectual disability, hypotonia of the torso, regression
Plain-language summary adapted from Wikipedia. Not medical advice.