Living with Toriello-Carey syndrome
A rare condition present at birth with distinctive facial features, brain differences, heart defects, and learning challenges.
Understanding Toriello-Carey syndrome
Features can include distinctive face and skull shape, brain differences, Pierre Robin sequence (a small lower jaw and a cleft palate), swallowing trouble, heart defects, low muscle tone, and moderate to severe intellectual disability. Signs appear in the newborn period or infancy and vary from person to person.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Low muscle tone (hypotonia)
- Cleft palate and small lower jaw (micrognathia)
- Missing nerve fibers joining the brain halves
- Hole in the heart wall (cardiac septum)
- Hearing impairment
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 brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in DDX3X 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
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); 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
GARD says the genetic cause is not fully understood. It may involve changes in one or more genes not yet found, or a chromosome difference. When not due to a chromosome difference, it is thought to be autosomal recessive.
Also known as: corpus callosum agenesis facial anomalies robin sequence; corpus callosum agenesis-blepharophimosis-robin sequence syndrome; corpus callosum, agenesis of, with facial anomalies and robin sequence; toriello carey syndrome
Patient organizations
- National Organization of Disorders of the Corpus CallosumToriello-Carey 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 Toriello-Carey syndrome.
Explore research for Toriello-Carey syndrome
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- Recruiting studies from ClinicalTrials.gov
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