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microcephaly, growth restriction, and increased sister chromatid exchange 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly, growth restriction, and increased sister chromatid exchange 2

MONDO:0020628

Also known as:MGRISCE2

Overview

GeneticsAutosomal recessive · TOP3A (chr 17)

OnsetANTENATAL

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Decreased body weight, Microcephaly, Short stature, and Increased susceptibility to spontaneous sister chromatid exchange and others; and very common findings: Cafe-au-lait spot. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	2	Short stature, Intrauterine growth retardation

Genetic Landscape

TOP3A function has not been fully characterized.

Microcephaly, growth restriction, and increased sister chromatid exchange 2 is associated with mutations in the TOP3A gene on chromosome 17.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for TOP3A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for microcephaly, growth restriction, and increased sister chromatid exchange 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 6 always present features, 1 very common feature, 5 common features.

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 microcephaly, growth restriction, and increased sister chromatid exchange 2.

2 publications have been identified in PubMed for microcephaly, growth restriction, and increased sister chromatid exchange 2. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).

Recent Publications

Kessler L (2025). [PMID: 39663844](https://pubmed.ncbi.nlm.nih.gov/39663844/). *Clin Genet*. [Diagnostic / Biomarker]
Nakano Y (2024). [PMID: 39264246](https://pubmed.ncbi.nlm.nih.gov/39264246/). *Clin Cancer Res*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618097

GARD

Genetic and Rare Diseases Info Center

GARD:18507

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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microcephaly, growth restriction, and increased sister chromatid exchange 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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