ORPHA:1896
EEC syndrome
Synonyms: Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EEC syndrome | Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome |
| fr | Syndrome EEC | Syndrome d'ectrodactylie-dysplasie ectodermique-fente labiopalatine |
| de | EEC-Syndrom | Ektrodaktylie - ektodermale Dysplasie - Lippen-Kiefer-Gaumen-Spalte |
| es | Síndrome EEC | Ectrodactilia-displasia ectodérmica-fisura labiopalatina |
| it | Sindrome EEC | Ectrodattilia - displasia ectodermica - labiopalatoschisi |
| nl | EEC-syndroom | Ectrodactylie - ectodermale dysplasie - gespleten lip/gehemelte-syndroom |
| pt | Síndrome EEC | Síndrome de ectrodactilia-displasia ectodérmica-fenda lábio-palatina |
| pl | Zespół EEC | Ektrodaktylia - dysplazja ektodermalna - rozszczep wargi/podniebienia |
| cs | EEC syndrom | Syndrom zahrnující ektrodaktylii, ektodermální dysplázii a rozštěp rtu/patra |
| uk | Синдром EEC | Синдром ектродактилії - ектодермальної дисплазії - розщілини губи/піднебіння |
| zh | 外胚层发育不良型缺指畸形伴唇裂/腭裂综合征 | 缺指（趾）畸形-外胚层发育不良-唇裂/腭裂综合征 |
| tr | EEC sendromu | Ektrodaktili-ektodermal displazi-yarık dudak / damak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129900 | BTNT | validated | |
| OMIM | 604292 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010004 | E | validated | |
| MeSH | C536189 | E | validated | |
| UMLS | C0406704 | E | validated | |
| GARD | 2076 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:98609EEC syndrome and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare ophthalmic disorders - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:519288Rare disorder with corneal involvement as a major feature
rare ophthalmic disorders - ORPHA:522558Rare genetic disorder with corneal involvement as a major feature
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1888Ectrodactyly-ectodermal dysplasia without clefting syndrome moved to · inactive
- ORPHA:1889Ectrodactyly-cleft palate syndrome moved to · inactive
- ORPHA:2389Lewis-Pashayan syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TP63 | Disease-causing germline mutation(s) in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 21959367[PMID]_24734328[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.11 / 100 000 | Europe | Value and class | Validated | ISBN:978-0-387-21753-6[OTHER] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET_ISBN:978-0-387-21753-6[OTHER] |
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
61 annotations · validated 2024-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001092 | Absent lacrimal punctum | |
| HP:0000670 | Carious teeth | |
| HP:0002208 | Coarse hair | |
| HP:0000958 | Dry skin | |
| HP:0100257 | Ectrodactyly | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000632 | Lacrimation abnormality | |
| HP:0000691 | Microdontia | |
| HP:0008404 | Nail dystrophy | |
| HP:0001803 | Nail pits | |
| HP:0045075 | Sparse eyebrow | |
| HP:0001839 | Split foot | |
| HP:0001171 | Split hand | |
| HP:0000679 | Taurodontia | |
| HP:0000574 | Thick eyebrow | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000498 | Blepharitis | |
| HP:0410030 | Cleft lip | |
| HP:0200020 | Corneal erosion | |
| HP:0000620 | Dacryocystitis | |
| HP:0004275 | Duplication of hand bones | |
| HP:0000968 | Ectodermal dysplasia | |
| HP:0007513 | Generalized hypopigmentation | |
| HP:0000126 | Hydronephrosis | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0000491 | Keratitis | |
| HP:0001096 | Keratoconjunctivitis | |
| HP:0012165 | Oligodactyly | |
| HP:0000202 | Orofacial cleft | |
| HP:0000613 | Photophobia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002217 | Slow-growing hair | |
| HP:0000068 | Urethral atresia | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000359 | Abnormality of the inner ear | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000621 | Entropion | |
| HP:0002213 | Fine hair | |
| HP:0006101 | Finger syndactyly | |
| HP:0000966 | Hypohidrosis | |
| HP:0000778 | Hypoplasia of the thymus | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0002665 | Lymphoma | |
| HP:0003764 | Nevus | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0008070 | Sparse hair | |
| HP:0001770 | Toe syndactyly | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000217 | Xerostomia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20556892[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1896
- This record as JSON: /data/d/1896.json