craniosynostosis-anal anomalies-porokeratosis syndrome
Findings
No curated finding names craniosynostosis-anal anomalies-porokeratosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0011287), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Anal atresiaHPOHP:0002023
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Coronal craniosynostosisHPOHP:0004440
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- 4 of 4 reported patients · Male
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- 6 of 6 reported patients
- Parietal foraminaHPOHP:0002697
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Short claviclesHPOHP:0000894
Show the remaining 28
- Aplastic clavicleHPOHP:0006660
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Ectopic anusHPOHP:0004397
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:19380HGNC:19380
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: craniosynostosis-anal anomalies-porokeratosis syndrome
- Also called
- CAP syndromeCDAGS syndrome