Living with Curry-Jones syndrome
A rare genetic condition with early skull closure, extra or joined fingers and toes, skin patches, and gut differences.
Understanding Curry-Jones syndrome
People may have a missing or partly missing corpus callosum, which links the two sides of the brain, and extra or joined fingers and toes. Skin can have pearly white areas that become scarred and thin. Eye differences and gut problems, such as a short gut, twisting of the intestine, and chronic constipation, can occur. Developmental delay and intellectual disability vary. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Missing corpus callosum
- Extra or joined fingers and toes
- Patches of skin loss or pale skin
- Small eyes (microphthalmia)
- Intellectual disability
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, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SMO 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); Brain and nervous system specialists (neurologists); 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 National Organization of Disorders of the Corpus Callosum 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 SMO gene.
Also known as: agenesis of corpus callosum with polysyndactyly syndrome; corpus callosum agenesis-polysyndactyly syndrome; crjs; curry jones syndrome; curry-jones syndrome, somatic mosaic
Patient organizations
- National Organization of Disorders of the Corpus CallosumCurry-Jones syndrome · United States
- 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 Curry-Jones syndrome.
Explore research for Curry-Jones syndrome
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