How is Warsaw breakage syndrome inherited?

Warsaw breakage syndrome follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How rare is Warsaw breakage syndrome?

Warsaw breakage syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Warsaw breakage syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Warsaw breakage syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Warsaw breakage syndrome?

Warsaw breakage syndrome primarily leads to severe growth retardation and microcephaly. While specific complications are not detailed, the issues with cell division may increase sensitivity to certain chemicals, which could lead to additional health concerns. Regular check-ups with healthcare providers are important to monitor any potential complications.

How does Warsaw breakage syndrome affect daily life?

Living with Warsaw breakage syndrome can be challenging due to severe growth retardation and microcephaly. Daily life may involve special accommodations for growth and development needs. Families may need to work closely with healthcare providers to ensure that children receive the support they need for their physical and developmental challenges.

What is the life expectancy for someone with Warsaw breakage syndrome?

Currently, there is limited information about the life expectancy of individuals with Warsaw breakage syndrome. Because it is a rare condition, more research is needed to understand its long-term effects. Families are encouraged to maintain regular medical care to address any health issues that may arise.

Are there specialists that should be involved in the care of someone with Warsaw breakage syndrome?

Yes, individuals with Warsaw breakage syndrome may benefit from a team of specialists. This could include geneticists, pediatricians, and developmental specialists who can help manage growth and developmental challenges. Working with a healthcare team can provide comprehensive care tailored to the specific needs of the individual.

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Warsaw breakage syndrome (WABS) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Warsaw breakage syndrome

MONDO:0013252

Also known as:WABS

Overview

A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11.

GeneticsAutosomal recessive · DDX11 (chr 12)

ResearchLimited published research (7 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: Narrow forehead, Hypermelanotic macule, Epicanthus, and Sloping forehead and others; and sometimes findings: Tetralogy of Fallot. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	High palate, Small face, Microcephaly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DDX11 encodes DEAD/H-box helicase 11 (970 aa). DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis. Highest expression in Cells EBV-transformed lymphocytes (29.6 TPM) and Cervix Endocervix (26.3 TPM).

Warsaw breakage syndrome is caused by mutations in the DDX11 gene on chromosome 12.

The DDX11 protein participates in Expression of DDX11 pathway.

DDX11 is classified as a druggable target (Dna Repair and Enzyme categories) with score 0.0.

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.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for DDX11-related cohesinopathy have been published.

Suggestive Findings

DDX11-related cohesinopathy should be suspected in individuals with a triad of characteristic findings:

Congenital severe microcephaly
Prenatal and postnatal growth restriction

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Warsaw breakage syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for DDX11-related cohesinopathy have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with DDX11-related cohesinopathy, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 5.

DDX11-Related Cohesinopathy: Recommended Surveillance

System/Concern | Evaluation | Frequency

Growth

| Monitor growth incl height, weight, head circumference, body mass index. | At each visit

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 Warsaw breakage syndrome.

7 publications have been identified in PubMed for Warsaw breakage syndrome. Research spans Basic Science / Preclinical (57%), Case Report / Case Series (29%), and Gene Therapy / Novel Therapeutics (14%).

Recent Publications

DuBois M (2026). [PMID: 40937658](https://pubmed.ncbi.nlm.nih.gov/40937658/). *Am J Med Genet A*. [Gene Therapy / Novel Therapeutics]
Zhang Y (2026). [PMID: 41853675](https://pubmed.ncbi.nlm.nih.gov/41853675/). *Front Neurosci*. [Case Report / Case Series]
Zhong X (2026). [PMID: 42107920](https://pubmed.ncbi.nlm.nih.gov/42107920/). *Seizure*. [Basic Science / Preclinical]
Woodward BL (2025). [PMID: 40368919](https://pubmed.ncbi.nlm.nih.gov/40368919/). *Nat Commun*. [Basic Science / Preclinical]
Bonavita R (2025). [PMID: 40413757](https://pubmed.ncbi.nlm.nih.gov/40413757/). *Autophagy*. [Basic Science / Preclinical]

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 4:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613398

Orphanet

European rare disease database

Orphanet:280558

GARD

Genetic and Rare Diseases Info Center

GARD:13708

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?

FAQ

Frequently Asked Questions

Common questions about Warsaw breakage syndrome

Warsaw breakage syndrome is a rare genetic disorder that mainly affects growth, resulting in severe growth retardation and a smaller than expected head size (microcephaly). It is recognized as a new form of cohesinopathy, which means that it involves problems in the process that holds sister chromatids together during cell division. This condition shows unique cytogenetic features that share similarities with those seen in Roberts syndrome and Fanconi anemia.

People with Warsaw breakage syndrome commonly experience severe growth retardation and microcephaly. Additional physical or developmental symptoms have not been extensively detailed in the available information.

The condition is caused by mutations in the DDX11 gene, located on chromosome 12p11. These mutations can be present in both copies of the gene (homozygous) or as different mutations in each copy (compound heterozygous). The defects affect the proper separation of sister chromatids during cell division and make individuals more sensitive to chemicals that cause replication stress. Associated genes include DDX11.

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Warsaw breakage syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Growth

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Constitutional

Behavior

Cardiovascular

Orthopedic

Genitourinary

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Therapies Under Investigation

Clinical Trials

Development

Psychiatric

Malignancy

Warsaw breakage syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Growth

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Warsaw breakage syndrome?

What are the symptoms of Warsaw breakage syndrome?

What causes Warsaw breakage syndrome?

How is Warsaw breakage syndrome inherited?

How rare is Warsaw breakage syndrome?

How is Warsaw breakage syndrome diagnosed?

Are there treatments for Warsaw breakage syndrome?

What complications can arise from Warsaw breakage syndrome?

How does Warsaw breakage syndrome affect daily life?

What is the life expectancy for someone with Warsaw breakage syndrome?

Are there specialists that should be involved in the care of someone with Warsaw breakage syndrome?

Clinical Guidance

Explore clinical features

Clinical Guidance

Differential Diagnosis

Constitutional

Behavior

Cardiovascular

Orthopedic

Genitourinary

Genetic counseling

Therapies Under Investigation

Clinical Trials

Development

Psychiatric

Malignancy