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

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

Rare Disease

MONDO:0034991

Definition

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.