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ORPHA:138Malformation syndrome
Also called CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome · Hall-Hittner syndrome
What it is
A multiple congenital anomaly characterized by a broad phenotype with Coloboma, Choanal atresia/stenosis, Cranial nerve dysfunction, and Characteristic external and inner ears (known as the major 4 C's).
Key facts
- Prevalence
- 1-9 / 100 000 (Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Unknown
- 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%
16- Abnormal cranial nerve morphologyDiagnostic criterion
- Abnormality of the inner earDiagnostic criterion
- Abnormal pinna morphologyDiagnostic criterion
- AnosmiaDiagnostic criterion
- Aplasia/Hypoplasia of the earlobesDiagnostic criterion
- ColobomaDiagnostic criterion
- CryptorchidismDiagnostic criterion
- Delayed pubertyDiagnostic criterion
- Feeding difficulties in infancy
- Global developmental delayDiagnostic criterion
- Hearing impairmentDiagnostic criterion
- Hypogonadotropic hypogonadism
- Hypoplasia of the semicircular canal
- Iris colobomaDiagnostic criterion
- MicropenisDiagnostic criterion
- Overfolded helix
Common30–79%
38- Abnormal aortic valve morphology
- Abnormal cardiac septum morphology
- Abnormal cardiovascular system morphologyDiagnostic criterion
- Abnormality of the soft palate
- Abnormal morphology of female internal genitaliaDiagnostic criterion
- Anophthalmia
- Anterior hypopituitarism
- Attention deficit hyperactivity disorder
- Autism
- Bifid scrotum
- Chin dimple
- Choanal atresiaDiagnostic criterion
- Chorioretinal colobomaDiagnostic criterion
- Compulsive behaviors
- Delayed eruption of teeth
- Depressed nasal bridge
- Dilatation of the aortic arch
- DysphagiaDiagnostic criterion
- Facial asymmetry
- Facial palsyDiagnostic criterion
- Gastroesophageal reflux
- HypotoniaDiagnostic criterion
- Intellectual disability
- Interrupted aortic arch
- Labial hypoplasiaDiagnostic criterion
- MicrophthalmiaDiagnostic criterion
- Narrow face
- Narrow mouth
- Nystagmus
- Optic atrophy
- Patent ductus arteriosus
- Polyhydramnios
- Posteriorly rotated earsDiagnostic criterion
- Postnatal growth retardation
- Ptosis
- Short statureDiagnostic criterion
- Strabismus
- Tetralogy of Fallot
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.
Genes
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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