Living with Uveal coloboma-cleft lip and palate-intellectual disability
A rare genetic condition present at birth with eye differences, often cleft lip or palate, and sometimes hearing loss and learning difficulty.
Understanding Uveal coloboma-cleft lip and palate-intellectual disability
A coloboma is a gap in part of the eye, usually in both eyes. Some people also have cleft lip, cleft palate, hearing loss, and intellectual disability. Eye involvement varies and can include small eyes, cataracts, and trouble moving the eyes.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gap in the iris (iris coloboma)
- Gap in the back of the eye (chorioretinal coloboma)
- Unusually small eyes (microphthalmia)
- Hearing loss from the inner ear
- Intellectual disability
- Blood in the urine (hematuria)
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in YAP1 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); Eye disease specialists (ophthalmologists); 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
This condition is caused by changes in the YAP1 gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development
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
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