Living with Kapur-Toriello syndrome
An extremely rare genetic condition with distinctive facial features, severe intellectual disability, heart and intestinal differences, and slow growth.
Understanding Kapur-Toriello syndrome
People can also have heart and intestinal differences. Eye differences such as small eyes and colobomas, a cleft in the mouth, and low-set ears are listed. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Slow growth and weight gain
- Small eyes (microphthalmia)
- Gaps in the eye (coloboma)
- Cleft lip or palate
- Intestinal malrotation
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome; kapur toriello syndrome; long columella with cleft lip/palate and eye, heart and intestinal anomalies
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 Kapur-Toriello syndrome.
Explore research for Kapur-Toriello syndrome
Explore actively recruiting Kapur-Toriello syndrome studies with HealthSpark.
Find actively recruiting studies for Kapur-Toriello syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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