ORPHA:138
CHARGE syndrome
Synonyms: CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome · Hall-Hittner syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
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).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CHARGE syndrome | CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome · Hall-Hittner syndrome |
| fr | Syndrome CHARGE | Association CHARGE · Syndrome de Hall-Hittner |
| de | CHARGE-Syndrom | CHARGE-Assoziation · Hall-Hittner-Syndrom · Kolobom-Herzdefekte-Choanalatresie Wachstums- und Entwicklungsretardierung-Urogenitale Störungen-Ohranomalien-Syndrom |
| es | Síndrome CHARGE | Asociación CHARGE · Síndrome de Hall-Hittner · Síndrome de coloboma-defectos cardíacos-atresia coanal-retraso del crecimiento y del desarrollo-problemas genitourinarios-anomalías del oído |
| it | Sindrome CHARGE | Associazione CHARGE · Sindrome coloboma-cardiopatia-atresia delle coane-ritardo della crescita e dello sviluppo-disturbi urogenitali-anomalie auricolari · Sindrome di Hall-Hittner |
| nl | CHARGE-syndroom | CHARGE-associatie · Coloboom - hartdefecten - choane atresie - groei- en ontwikkelingsachterstand - urogenitale problemen - oorafwijkingen-syndroom · Syndroom van Hall-Hittner |
| pt | Síndrome CHARGE | Associação CHARGE · Síndrome Hall-Hittner · Síndrome coloboma-defeitos cardíacos-atrésia das coanas-atraso do crescimento e desenvolvimento-problemas genitourinários-anomalias do pavilhão auricular |
| pl | Zespół CHARGE | Asocjacja CHARGE · Coloboma - wady serca - zarośnięcie nozdzy tylnych - opóźnienie wzrostu i rozwoju - wady układu moczowo-płciowego - wady uszu · Zespół Hall i Hittnera |
| cs | CHARGE syndrom | CHARGE asociace · Syndrom zahrnující kolobom, srdeční defekty, atrézii choan, růstovou retardaci, opoždění vývoje, anomálie močopohlavního ústrojí a abnormality ucha · Hallův-Hittnerův syndrom · Hall-Hittnerův syndrom |
| uk | Синдром CHARGE | Асоціація CHARGE · Синдром колобоми - вади серця - атрезії вушних раковин - затримки росту і розвитку - сечостатевх проблем - вушних аномалій · Синдром Холла-Хіттнера |
| zh | CHARGE综合征 | 眼组成部分缺损-先天性心脏病-鼻后孔闭锁-生长发育迟缓-生殖器异常-耳部异常综合征 |
| tr | CHARGE sendromu | CHARGE ilişkilendirmesi · Hall-Hittner sendromu · Kolobom-kalp defekti-koana atrezisi-büyüme ve gelişme geriliği-genitoüriner problemler-kulak anormallikleri sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214800 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | index | validated |
| MONDO | 0008965 | E | validated | |
| MeSH | D058747 | E | validated | |
| UMLS | C0265354 | E | validated | |
| GARD | 29 | E | validated | |
| MedDRA | 10064063 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (12):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:98655Lens shape anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:399846Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
rare genetic diseases; rare infertility disorders - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1474Colobomatous-microphthalmia-heart disease-hearing loss syndrome moved to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SEMA3E | Candidate gene tested in | Not yet assessed | HGNC:10727 | ENSG00000170381 | 608166 | 7q21.11 | semaphorin 3E | 15235037[PMID] |
| CHD7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20626 | ENSG00000171316 | 608892 | 8q12.2 | chromodomain helicase DNA binding protein 7 | 20301296[PMID] |
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | Canada | Value and class | Validated | 15637722[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.5 / 100 000 | Worldwide | Value and class | Not yet validated | 16959034[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2019[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
94 annotations · validated 2023-10-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001291 | Abnormal cranial nerve morphology | Diagnostic criterion |
| HP:0000377 | Abnormal pinna morphology | Diagnostic criterion |
| HP:0000359 | Abnormality of the inner ear | Diagnostic criterion |
| HP:0000458 | Anosmia | Diagnostic criterion |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | Diagnostic criterion |
| HP:0000589 | Coloboma | Diagnostic criterion |
| HP:0000028 | Cryptorchidism | Diagnostic criterion |
| HP:0000823 | Delayed puberty | Diagnostic criterion |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0001263 | Global developmental delay | Diagnostic criterion |
| HP:0000365 | Hearing impairment | Diagnostic criterion |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0011382 | Hypoplasia of the semicircular canal | |
| HP:0000612 | Iris coloboma | Diagnostic criterion |
| HP:0000054 | Micropenis | Diagnostic criterion |
| HP:0000396 | Overfolded helix | |
| Frequent (79-30%) | ||
| HP:0001646 | Abnormal aortic valve morphology | |
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | Diagnostic criterion |
| HP:0000008 | Abnormal morphology of female internal genitalia | Diagnostic criterion |
| HP:0100736 | Abnormality of the soft palate | |
| HP:0000528 | Anophthalmia | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0000048 | Bifid scrotum | |
| HP:0010751 | Chin dimple | |
| HP:0000453 | Choanal atresia | Diagnostic criterion |
| HP:0000567 | Chorioretinal coloboma | Diagnostic criterion |
| HP:0000722 | Compulsive behaviors | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0005113 | Dilatation of the aortic arch | |
| HP:0002015 | Dysphagia | Diagnostic criterion |
| HP:0000324 | Facial asymmetry | |
| HP:0010628 | Facial palsy | Diagnostic criterion |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | Diagnostic criterion |
| HP:0001249 | Intellectual disability | |
| HP:0011611 | Interrupted aortic arch | |
| HP:0000066 | Labial hypoplasia | Diagnostic criterion |
| HP:0000568 | Microphthalmia | Diagnostic criterion |
| HP:0000275 | Narrow face | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | Diagnostic criterion |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | Diagnostic criterion |
| HP:0000486 | Strabismus | |
| HP:0001636 | Tetralogy of Fallot | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0004348 | Abnormality of bone mineral density | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000834 | Abnormality of the adrenal glands | |
| HP:0000478 | Abnormality of the eye | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0000504 | Abnormality of vision | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0002410 | Aqueductal stenosis | |
| HP:0010443 | Bifid femur | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | Diagnostic criterion |
| HP:0000204 | Cleft upper lip | Diagnostic criterion |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006824 | Cranial nerve paralysis | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000286 | Epicanthus | |
| HP:0000625 | Eyelid coloboma | Diagnostic criterion |
| HP:0002937 | Hemivertebrae | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000126 | Hydronephrosis | |
| HP:0000316 | Hypertelorism | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0001601 | Laryngomalacia | |
| HP:0000252 | Microcephaly | |
| HP:0008551 | Microtia | |
| HP:0000384 | Preauricular skin tag | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001883 | Talipes | |
| HP:0002575 | Tracheoesophageal fistula | Diagnostic criterion |
| HP:0001537 | Umbilical hernia | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0001539 | Omphalocele | |
| HP:0010442 | Polydactyly | |
| HP:0000465 | Webbed neck | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21378379[PMID]_9545604[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/138
- This record as JSON: /data/d/138.json