Living with Craniosynostosis-anal anomalies-porokeratosis syndrome
A very rare syndrome (CDAGS) with early skull closure, late-closing soft spots, anal and urinary tract differences, and a skin rash.
Understanding Craniosynostosis-anal anomalies-porokeratosis syndrome
The letters stand for craniosynostosis (early skull closure) and underdeveloped collarbones, delayed closure of the soft spot, anal differences, genitourinary differences, and a skin rash. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Missing or small collarbones
- Late-closing soft spots
- Anus that is blocked or in an unusual place
- Eczema-like skin rash
- Global developmental delay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in RNU12 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with World Craniofacial Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the RNU12 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cap syndrome; cdags (craniosynostosis, clavicular hypoplasia, delayed closure of fontanelle, anal anomalies, genitourinary malformations, skin eruption) syndrome; cdags syndrome; craniosynostosis, anal anomaly, porokeratosis syndrome
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniosynostosis-anal anomalies-porokeratosis syndrome.
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