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Start free with EleplanCHIME syndrome
ORPHA:3474Malformation syndrome
Also called Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency · Neuroectodermal dysplasia, CHIME type · Neuroectodermal syndrome, Zunich type · PIGL-CDG · Zunich-Kaye syndrome
What it is
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
21- Abnormal dental morphology
- Abnormal dermatoglyphics
- Abnormality of the dentition
- Abnormality of the outer ear
- Aplasia/Hypoplasia of the nipples
- Brachycephaly
- Depressed nasal ridge
- Epicanthus
- Erythema
- Hearing impairment
- Hypertelorism
- Hypodontia
- Ichthyosis
- Intellectual disability
- Microdontia
- Ptosis
- Retinal coloboma
- Short philtrum
- Strabismus
- Tall stature
- Thick vermilion border
Common30–79%
14- Abnormality of epiphysis morphology
- Aplasia/Hypoplasia of the phalanges of the hand
- Aplasia/Hypoplasia of the phalanges of the toes
- Aplastic clavicles
- Cleft palate
- Corneal opacity
- Pulmonary valve atresia
- Seizure
- Short foot
- Short palm
- Supernumerary tooth
- Tetralogy of Fallot
- Transposition of the great arteries
- Upslanted palpebral fissure
Sometimes5–29%
13- Abnormality of the kidney
- Acute leukemia
- Autism
- Cerebral cortical atrophy
- Clubbing of toes
- Fine hair
- Hip dislocation
- Hydronephrosis
and 5 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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