ORPHA:1997
Blepharo-cheilo-odontic syndrome
Synonyms: BCD syndrome · Blepharocheilodontic syndrome · Clefting-ectropion-conical teeth syndrome · Ectropion inferior-cleft lip and/or palate syndrome · Elschnig syndrome · Lagophthalmia-cleft lip and palate syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharo-cheilo-odontic syndrome | BCD syndrome · Blepharocheilodontic syndrome · Clefting-ectropion-conical teeth syndrome · Ectropion inferior-cleft lip and/or palate syndrome · Elschnig syndrome · Lagophthalmia-cleft lip and palate syndrome |
| fr | Syndrome blépharo-cheilo-odontique | Syndrome d'ectropion inférieur-fente labiopalatine · Syndrome de fente labiopalatine-ectropion de la paupière-dents coniques · Syndrome de lagophtalmie-fente labiopalatine · Syndrome BCD · Syndrome blépharocheilodontique · Syndrome d'Elschnig |
| de | Blepharo-cheilo-dontie-Syndrom | BCD-Syndrom · Elschnig-Syndrom · Inferiores Ektropium-Lippen- und/oder Gaumenspalte-Syndrom · Lagophthalmus-Lippen-Kiefer-Gaumenspalte-Syndrom · Spaltbildung-Ektropium-konische Zähne-Syndrom |
| es | Síndrome bléfaro-queilo-odóntico | Síndrome blefaroqueiloodóntico · Síndrome de Elsching · Síndrome de ectropión inferior-labio leporino y/o paladar hendido · Síndrome de hendidura-ectropión-dientes cónicos · Síndrome de lagoftalmia-labio leporino y paladar hendido |
| it | Sindrome blefaro-cheilo-dentale | Ectropion inferiore - labio/palatoschisi · Lagoftalmo - labiopalatoschisi · Schisi - ectropion - denti conici · Sindrome BCD · Sindrome blefarocheilodentale · Sindrome di Elsching |
| nl | Blefaro-cheilo-odontisch syndroom | BCD syndroom · Blefarocheilodontisch syndroom · Ectropion inferior - gespleten lip en/of verhemelte-syndroom · Lagoftalmie - gespleten lip en verhemelte-syndroom · Lagoftalmie - gespleten lip en/of verhemelte-syndroom · Splijting - ectropion - conische tanden-syndroom · Syndroom van Elsching |
| pt | Síndrome blefaro-queilo-odôntico | Síndrome de ectropion inferior-fenda labial e/ou palatina · Síndrome de fenda-ectropion-dentes cónicos |
| pl | Zespół powiekowo-wargowo-zębowy | Niedomykalność powiek - rozszczep wargi i podniebienia · Rozszczep - ektropion - zęby stożkowate · Wywinięcie powieki dolnej - rozszczep wargi lub podniebienia · Zespół BCD · Zespół Elschinga |
| cs | Blefarocheiloodontický syndrom | BCD syndrom · Syndrom zahrnující rozštěp, ektropium a kuželovité zuby · Syndrom zahrnující ektropium dolního očního víčka a rozštěp rtu nebo patra · Elschingův syndrom · Syndrom zahrnující lagoftalmus a rozštěp rtu a patra |
| uk | Блефаро-хайло-одонтологічний синдром | Синдром BCD · Блефарохейлодонтичний синдром · Синдром розщеплення ектропіонно-конічних зубів · Синдром ектропіонної нижньої губи та/або піднебіння · Синдром Ельшніга · Синдром лагофтальмії - розщеплення губи та піднебіння |
| zh | 眼睑-上唇-牙齿综合征 | 下眼睑外翻-唇腭裂综合征 |
| tr | Blefaro-cheilo-odontik sendrom | BCD sendromu · Elschnig sendromu · Blefarokeilodontik sendromu · Yarık-ektropiyon-konik diş sendromu · Lagoftalmi-yarık dudak ve damak sendromu · Ektropiyon inferior-yarık dudak ve / veya damak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119580 | E | validated | |
| OMIM | 617681 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007339 | E | validated | |
| MeSH | C536188 | E | validated | |
| UMLS | C1861536 | E | validated | |
| GARD | 2071 | 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 (7):
- ORPHA:98570Congenital ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDH1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1748 | ENSG00000039068 | 192090 | 16q22.1 | cadherin 1 | 28301459[PMID] |
| CTNND1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2515 | ENSG00000198561 | 601045 | 11q12.1 | catenin delta 1 | 28301459[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 cases | Worldwide | Case(s) | Validated | EXPERT_24719364[PMID]_28181393[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | EXPERT_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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0009743 | Distichiasis | |
| HP:0007651 | Ectropion of lower eyelids | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0000670 | Carious teeth | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000698 | Conical tooth | |
| HP:0012905 | Euryblepharon | |
| HP:0006101 | Finger syndactyly | |
| HP:0000316 | Hypertelorism | |
| Occasional (29-5%) | ||
| HP:0011362 | Abnormal hair quantity | |
| HP:0002023 | Anal atresia | |
| HP:0200040 | Epidermoid cyst | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1997
- This record as JSON: /data/d/1997.json