intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
MONDO:0034991Mondo
Findings
No curated finding names intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0034991), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of