Kapur-Toriello syndrome
Synonyms: Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual disability, facial dysmorphism (low-set and malformed ears, bulbous nasal tip, low hanging columella, bilateral cleft lip and palate), eye anomalies (microophthalmia, coloboma), intestinal abnormalities and heart defects.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kapur-Toriello syndrome | Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome |
| fr | Syndrome de Kapur-Toriello | Syndrome de fente labiopalatine-cardiopathie-malrotation intestinale |
| de | Kapur-Toriello-Syndrom | Lippen-Kiefer-Gaumenspalte - Kardiopathie - intestinale Malrotation |
| es | Síndrome de Kapur-Toriello | |
| it | Sindrome di Kapur-Toriello | Labiopalatoschisi - cardiopatia - malrotazione intestinale |
| nl | Syndroom van Kapur-Toriello | Gespleten lip/gehemelte - afwijkingen van gelaat, oog, hart en darm-syndroom |
| pt | Síndrome Kapur-Toriello | Síndrome fenda lábio-palatina-anomalias facio-óculo-cardio-intestinais |
| pl | Zespół Kapura i Toriello | Rozszczep wargi/podniebienia - - wady twarzy, oka, serca i jelit |
| cs | Kapurův-Toriellův syndrom | Syndrom zahrnující rozštěp rtu/patra, anomálie oka, srdce a střev · Kapur-Toriellův syndrom |
| uk | Синдром Капура-Торіелло | Синдром розщілини губи/піднебіння-лицевих, очних, серцевих та кишкових аномалій |
| zh | Kapur-Toriello综合征 | 唇腭裂-面眼心肠异常综合征 |
| tr | Kapur-Toriello sendromu | Yarık dudak / damak-fasiyal, göz, kalp ve bağırsak anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 244300 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009483 | E | validated | |
| MeSH | C537008 | E | validated | |
| UMLS | C0796005 | E | validated | |
| GARD | 3078 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 1776630[PMID]_10319207[PMID]_18831061[PMID]_20358618[PMID]_26049588[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1776630[PMID]_10319207[PMID]_18831061[PMID]_20358618[PMID]_26049588[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.
HPO phenotypes
22 annotations · validated 2017-11-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0000369 | Low-set ears | |
| HP:0000568 | Microphthalmia | |
| HP:0000202 | Orofacial cleft | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000480 | Retinal coloboma | |
| Frequent (79-30%) | ||
| HP:0002019 | Constipation | |
| HP:0001508 | Failure to thrive | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000470 | Short neck | |
| Occasional (29-5%) | ||
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0001302 | Pachygyria | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002126 | Polymicrogyria | |
| HP:0000384 | Preauricular skin tag | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2328
- This record as JSON: /data/d/2328.json