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craniosynostosis-anal anomalies-porokeratosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

craniosynostosis-anal anomalies-porokeratosis syndrome

MONDO:0011287

Also known as:CAP syndromeCDAGS syndromecraniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies and genitourinary malformations

Overview

Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).

GeneticsAutosomal recessive · RNU12 (chr 22)

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: Anal atresia, Coronal craniosynostosis, Large fontanelles, and Parietal foramina and others; and very common findings: Short clavicles. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	4	Lambdoidal craniosynostosis, Sagittal craniosynostosis, Coronal craniosynostosis

Genetic Landscape

RNU12 function has not been fully characterized.

Craniosynostosis-anal anomalies-porokeratosis syndrome is associated with mutations in the RNU12 gene on chromosome 22.

Diagnosis

Genetic testing for RNU12 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

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 craniosynostosis-anal anomalies-porokeratosis syndrome.

2 publications have been identified in PubMed for craniosynostosis-anal anomalies-porokeratosis syndrome. Research spans Basic Science / Preclinical (50%) and Gene Therapy / Novel Therapeutics (50%).

Recent Publications

Hu M (2024). [PMID: 39169623](https://pubmed.ncbi.nlm.nih.gov/39169623/). *Mol Ther*. [Gene Therapy / Novel Therapeutics]
Zhang J (2024). [PMID: 38951308](https://pubmed.ncbi.nlm.nih.gov/38951308/). *Stem Cell Rev Rep*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:603116

Orphanet

European rare disease database

Orphanet:85199

GARD

Genetic and Rare Diseases Info Center

GARD:9506

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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craniosynostosis-anal anomalies-porokeratosis syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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