ORPHA:52055
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Synonyms: Graham-Cox syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | Graham-Cox syndrome |
| fr | Syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie | Syndrome de Graham-Cox |
| de | Corpus-callosum-Agenesie-Intelligenzminderung-Kolobom-Mikrognathie-Syndrom | Graham-Cox-Syndrom |
| es | Síndrome de agenesia del cuerpo calloso-discapacidad intelectual-coloboma-micrognatia | Síndrome de Graham-Cox |
| it | Sindrome agenesia del corpo calloso-disabilità cognitiva-coloboma-micrognatia | Sindrome di Graham-Cox |
| nl | Agenesie van corpus callosum - intellectuele achterstand - coloboom - micrognathie-syndroom | Syndroom van Graham-Cox |
| pt | Síndrome de agenesia do corpo caloso-perturbação do desenvolvimento intelectual-coloboma-micrognatia | Deficiência SLC6A8 · Síndrome Graham-Cox |
| pl | Zespół agnezji ciała modzelowatego, niepełnosprawności intelektualnej, coloboma i mikrognacji | Zespół Grahama i Coxa |
| cs | Syndrom zahrnující agenezi corpus callosum, mentální retardaci, kolobom a mikrognatii | Grahamův-Coxův syndrom · Graham-Coxův syndrom |
| uk | Синдром агенезії мозолистого тіла-інтелектуальної недостатності-колобоми-мікрогнатії | Синдром Грехема-Кокса |
| zh | 胼胝体发育不全-智力障碍-眼底缺损-小颌畸形综合征 | Graham-Cox综合征 |
| tr | Korpus kallozum agenezi-zihinsel yetersizlik-kolobom-mikrognati sendromu | Graham-Cox sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300472 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010333 | E | validated | |
| UMLS | C4302679 | E | validated | |
| GARD | 12486 | 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:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269573Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:519345Rare disorder with optic disc malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IGBP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:5461 | ENSG00000089289 | 300139 | Xq13.1 | immunoglobulin binding protein 1 | 14556245[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 14556245[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_14556245[PMID] |
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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000378 | Cupped ear | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000639 | Nystagmus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000218 | High palate | |
| HP:0000612 | Iris coloboma | |
| HP:0000588 | Optic disc coloboma | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 14556245[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/52055
- This record as JSON: /data/d/52055.json