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intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0034991

Overview

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.

ResearchLimited published research (1 article)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome.

1 publication has been identified in PubMed for intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Nakano Y (2024). [PMID: 39264246](https://pubmed.ncbi.nlm.nih.gov/39264246/). *Clin Cancer Res*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:49 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:508512

GARD

Genetic and Rare Diseases Info Center

GARD:17949

Questions for Your Care Team

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

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team