Definition
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Definition
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
Disease data
Classification
Malformation syndrome
Synonyms
CHARGE association
Asocjacja CHARGE
Coloboma - wady serca - zarośnięcie nozdzy tylnych - opóźnienie wzrostu i rozwoju - wady układu moczowo-płciowego - wady uszu
Zespół Hall i Hittnera
Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
Hall-Hittner syndrome
ORPHA code
138
OMIM code
214800
ICD10 code
Q87.8
ICD11 code
5A61.0
No additional description.
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