Living with CHIME syndrome
A rare genetic condition that affects the eyes, heart, skin, hearing, and learning, and can include seizures.
Understanding CHIME syndrome
The name stands for the main features: eye gaps (colobomas), heart defects, scaly skin (ichthyosiform dermatosis), intellectual disability, and ear problems. GARD also lists conductive hearing loss and epilepsy. GARD lists onset in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Changes in the shape or number of teeth
- Cleft palate
- Cloudy cornea (corneal opacity)
- Crossed eyes (strabismus)
- Drooping upper eyelid (ptosis)
- Differences in the outer ear
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 PIGL 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
National Foundation for Ectodermal Dysplasias and Epilepsy 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: National Foundation for Ectodermal Dysplasias, Epilepsy 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 Foundation for Ectodermal Dysplasias 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 the PIGL gene cause CHIME syndrome. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: chime (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome; coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome; coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome; congenital disorder of glycosylation due to pigl deficiency; glycosylphosphatidylinositol biosynthesis defect 5
Patient organizations
- National Foundation for Ectodermal DysplasiasCHIME syndrome · United States
- Epilepsy FoundationEpilepsy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with CHIME syndrome.
Explore research for CHIME syndrome
Explore actively recruiting CHIME syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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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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