ORPHA:3338
Toriello-Carey syndrome
Synonyms: Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Toriello-Carey syndrome | Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome |
| fr | Syndrome de Toriello-Carey | Syndrome d'agénésie du corps calleux-blépharophimosis-séquence de Robin |
| de | Toriello-Carey-Syndrom | Corpus-callosum-Agenesie - Blepharophimosis - Pierre-Robin-Sequenz |
| es | Síndrome de Toriello-Carey | |
| it | Sindrome di Toriello-Carey | Agenesia del corpo calloso - blefarofimosi - sequenza di Pierre Robin |
| nl | Syndroom van Toriello-Carey | Agenesie van corpus callosum - blefarofimose - Robin sequentie-syndroom |
| pt | Síndrome Toriello-Carey | Síndrome de agenesia do corpo caloso-blefarofimose-sequência de Robin |
| pl | Zespół Toriello i Careya | Agnezja ciała modzelowatego - zwężenie szpar powiekowych - sekwencja Robina |
| cs | Toriellové-Careyův syndrom | Syndrom zahrnující agenezi corpus callosum, blefarofimózu a Robinovu sekvenci · Toriello-Careyův syndrom |
| uk | Синдром Торіелло-Кейрі | Синдром агенезії мозолистого тіла - блефарофімозу - послідовності Робіна |
| zh | Toriello-Carey 综合征 | 胼胝体发育不全-睑裂狭小-Robin序列征综合征 |
| tr | Toriello-Carey sendromu | Korpus kallozum agenezi-blefarofimoz-Robin dizisi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217980 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009021 | E | validated | |
| MeSH | C563127 | E | validated | |
| UMLS | C0796184 | E | validated | |
| GARD | 5225 | 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 (5):
- 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DDX3X | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2745 | ENSG00000215301 | 300160 | Xp11.4 | DEAD-box helicase 3 X-linked | 28371085[PMID]_26235985[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 59 cases | Worldwide | Case(s) | Validated | 27510950[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27510950[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
46 annotations · validated 2022-12-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0003196 | Short nose | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000506 | Telecanthus | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001545 | Anteriorly placed anus | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000293 | Full cheeks | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0001600 | Abnormality of the larynx | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001156 | Brachydactyly | |
| HP:0001638 | Cardiomyopathy | |
| HP:0002059 | Cerebral atrophy | |
| HP:0030084 | Clinodactyly | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000218 | High palate | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000774 | Narrow chest | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0001338 | Partial agenesis of the corpus callosum | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001250 | Seizure | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000391 | Thickened helices | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0009892 | Anotia | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 27510950[PMID]_27748028[PMID]_14556252[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3338
- This record as JSON: /data/d/3338.json