ORPHA:50
Aicardi syndrome
Synonyms: Agenesis of corpus callosum with chorioretinal abnormality
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare neurodevelopmental disorder characterized by the classic triad of agenesis of the corpus callosum (total or partial), central chorioretinal lacunae and infantile spasms that affects almost exclusively females.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aicardi syndrome | Agenesis of corpus callosum with chorioretinal abnormality |
| fr | Syndrome d'Aicardi | Syndrome d'agénésie du corps calleux-anomalie choriorétinienne |
| de | Aicardi-Syndrom | Balkenagenesie mit chorioretinaler Anomalie |
| es | Síndrome de Aicardi | |
| it | Sindrome di Aicardi | Agenesia del corpo calloso - anomalie corioretiniche |
| nl | Syndroom van Aicardi | Agenesie van corpus callosum met chorioretinale anomalie |
| pt | Síndrome Aicardi | Agenesia do corpo caloso com anomalia corio-retiniana |
| pl | Zespół Aicardi'ego | Agnezja ciała modzelowatego z zaburzeniami naczyniówkowo-siatkówkowymi |
| cs | Aicardiho syndrom | Ageneze corpus callosum s chorioretinálními abnormalitami |
| uk | Синдром Айкарді | Генезис мозолистого тіла при хоріоретинальній аномалії |
| zh | Aicardi综合征 | 胼胝体发育不良伴脉络膜视网膜畸形 |
| tr | Aicardi sendromu | Koryoretinal anormallik ile seyreden korpus kallozumun agenezisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304050 | E | validated | |
| ICD-10 | Q04.0 | NTBT | attributed | validated |
| ICD-11 | LD20.Y | NTBT | index | validated |
| MONDO | 0010568 | E | validated | |
| MeSH | D058540 | E | validated | |
| UMLS | C0175713 | E | validated | |
| GARD | 5764 | E | validated | |
| MedDRA | 10054935 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:166478Cerebral malformation with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:716299Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:199639Syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.07 / 100 000 | Netherlands | Value and class | Validated | 18182643[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.95 / 100 000 | United States | Value and class | Validated | 18182643[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | United States | Class only | Not yet validated | 18182643[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.4 / 100 000 | Worldwide | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
50 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0012469 | Infantile spasms | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0001302 | Pachygyria | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0002126 | Polymicrogyria | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0000892 | Bifid ribs | |
| HP:0003305 | Block vertebrae | |
| HP:0003316 | Butterfly vertebrae | |
| HP:0002353 | EEG abnormality | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0001276 | Hypertonia | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000921 | Missing ribs | |
| HP:0010759 | Premaxillary Prominence | |
| HP:0000411 | Protruding ear | |
| HP:0000902 | Rib fusion | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0001257 | Spasticity | |
| HP:0005815 | Supernumerary ribs | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0002019 | Constipation | |
| HP:0000823 | Delayed puberty | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002884 | Hepatoblastoma | |
| HP:0002036 | Hiatus hernia | |
| HP:0001385 | Hip dysplasia | |
| HP:0200008 | Intestinal polyposis | |
| HP:0002024 | Malabsorption | |
| HP:0001012 | Multiple lipomas | |
| HP:0000639 | Nystagmus | |
| HP:0000648 | Optic atrophy | |
| HP:0000588 | Optic disc coloboma | |
| HP:0001357 | Plagiocephaly | |
| HP:0000826 | Precocious puberty | |
| HP:0000541 | Retinal detachment | |
| HP:0200055 | Small hand | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/50
- This record as JSON: /data/d/50.json