Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome

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A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature microcephaly mild developmental delay cardiomyopathy and symptomatic gastro-esophageal reflux have also been described while malar rash is typically absent.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome?

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