ORPHA:3253
Cleft lip/palate-ectodermal dysplasia syndrome
Synonyms: CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome · Syndactyly-ectodermal dysplasia-cleft/lip palate · Zlotogora-Ogur syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft lip/palate-ectodermal dysplasia syndrome | CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome · Syndactyly-ectodermal dysplasia-cleft/lip palate · Zlotogora-Ogur syndrome |
| fr | Syndrome de fente labiopalatine-dysplasie ectodermique | Syndrome de Zlotogora-Ogur · Syndrome de fente labiopalatine-syndactylie-pili torti · Syndrome de syndactylie-dysplasie ectodermique-fente labiopalatine |
| de | Lippen-Kiefer-Gaumen-Spalte-ektodermale Dysplasie-Syndrom | CLPED1 · Lippen-Kiefer-Gaumen-Spalte-Syndaktylie-Pili torti-Syndrom · Syndaktylie-ektodermale Dysplasie-Lippen-Kiefer-Gaumen-Spalte-Syndrom · Zlotogora-Ogur-Syndrom |
| es | Síndrome de labio leporino/paladar hendido-displasia ectodérmica | CLPED1 · Sindactilia-displasia ectodérmica-labio leporino/paladar hendido · Síndrome de Zlotogora-Ogur · Síndrome de labio leporino/paladar hendido-sindactilia-pili torti |
| it | Sindrome labio/palatoschisi-displasia ectodermica | CLPED1 · Sindattilia - displasia ectodermica - labio/palatoschisi · Sindrome di Zlotogora-Ogur · Sindrome labio/palatoschisi-sindattilia-pili torti |
| nl | Gespleten lip/verhemelte - ectodermale dysplasie-syndroom | CLPED1 · Gespleten lip/verhemelte - syndactylie - pili torti-syndroom · Syndactylie - ectodermale dysplasie - gespleten lip/verhemelte-syndroom · Syndroom van Zlotogora-Ogur |
| pt | Síndrome de fenda labial/palatina-displasia ectodérmica | CLPED1 · Síndrome Zlotogora-Ogur · Síndrome de sindactilia-displasia ectodérmica-fenda labial/palatina |
| pl | Zespół Zlotogora i Ogura | CLPED1 · Rozszczep wargi/podniebienia-syndaktylia-włosy skręcone · Syndaktylia - dysplazja ektodermalna - rozszczep wargi/podniebienia · Zespół rozszczep wargi/podniebienia-dysplazja ektodermalna · Zespół Zlotogora, Zilbermana i Tenenbauma · CLPED1 · Zespół Zlotogora, Zilbermana i Tenenbauma · Zespół rozszczepu wargi/poniebienia i dysplazji ektodermalnej · Zespół rozszczepu wargi/poniebienia, syndaktylii i włosów skręconych · Syndaktylia-dysplazja ektodermalna-rozszczep wargi/podniebienia |
| cs | Zlotogorův-Ogurův syndrom | CLPED1 · Syndrom zahrnující rozštěp rtu/patra, syndaktylii a pili torti · Syndaktylie, ektodermální dysplázie a rozštěp patra/rtu · Zlotogorův-Zilbermanův-Tenenbaumův syndrom · Zlotogora-Ogurův syndrom · Zlotogora-Zilberman-Tenenbaumův syndrom |
| uk | Синдром розщілини губи/піднебіння-ектодермальна дисплазія | Синдром розщілини губи/піднебіння- pili torti · CLPED1 · Синдактилія - ектодермальна дисплазія - щілина/піднебіння · Синдром Злотогора-Огура |
| zh | 唇腭裂-外胚层发育异常综合征 | 并指（趾）-外胚层发育不良-唇/腭裂 |
| tr | Yarık dudak / damak-ektodermal displazi sendromu | CLPED1 · Zlotogora-Zilberman-Tenenbaum sendromu · Yarık dudak / damak-sindaktili-pili torti sendromu · Sindaktili-ektodermal displazi-yarık/dudak damak |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225060 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009151 | E | validated | |
| MeSH | C536726 | E | validated | |
| UMLS | C2931488 | E | validated | |
| GARD | 375 | 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 (4):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:90338Margarita island ectodermal dysplasia moved to · inactive
- ORPHA:101036OBSOLETE: Zlotogura-Martinez syndrome referred to · inactive
- ORPHA:320317OBSOLETE: Cleft lip/palate-ectodermal dysplasia syndrome referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NECTIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9706 | ENSG00000110400 | 600644 | 11q23.3 | nectin cell adhesion molecule 1 | 10932188[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | [EXPERT] |
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
41 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000204 | Cleft upper lip | |
| HP:0000968 | Ectodermal dysplasia | |
| HP:0006101 | Finger syndactyly | |
| HP:0000400 | Macrotia | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001596 | Alopecia | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000670 | Carious teeth | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000135 | Hypogonadism | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0011800 | Midface retrusion | |
| HP:0008404 | Nail dystrophy | |
| HP:0003777 | Pili torti | |
| HP:0000411 | Protruding ear | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000046 | Small scrotum | |
| HP:0008070 | Sparse hair | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0000664 | Synophrys | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0000674 | Anodontia | |
| HP:0002353 | EEG abnormality | |
| HP:0003307 | Hyperlordosis | |
| HP:0000668 | Hypodontia | |
| HP:0000966 | Hypohidrosis | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3253
- This record as JSON: /data/d/3253.json