{"orpha":1896,"name":"EEC syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome"],"definition":"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1896/","orphanet_url":"https://www.orpha.net/en/disease/detail/1896","names":{"fr":{"name":"Syndrome EEC","synonyms":["Syndrome d'ectrodactylie-dysplasie ectodermique-fente labiopalatine"],"definition":"Le syndrome EEC est une anomalie du développement embryonnaire d'origine génétique qui associe une ectrodactylie, une dysplasie ectodermique et des fentes orofaciales (fente labiale/palatine)."},"de":{"name":"EEC-Syndrom","synonyms":["Ektrodaktylie - ektodermale Dysplasie - Lippen-Kiefer-Gaumen-Spalte"],"definition":"Das EEC-Syndrom ist eine genetische Entwicklungsstörung mit Ektrodaktylie, ektodermaler Dysplasie und oro-fazialen Spalten (Lippen-Kiefer-Gaumen-Spalte)."},"es":{"name":"Síndrome EEC","synonyms":["Ectrodactilia-displasia ectodérmica-fisura labiopalatina"],"definition":"El síndrome EEC es un trastorno genético del desarrollo caracterizado por: ectrodactilia, displasia ectodérmica, y hendiduras orofaciales (labio leporino/paladar hendido)."},"it":{"name":"Sindrome EEC","synonyms":["Ectrodattilia - displasia ectodermica - labiopalatoschisi"]},"nl":{"name":"EEC-syndroom","synonyms":["Ectrodactylie - ectodermale dysplasie - gespleten lip/gehemelte-syndroom"],"definition":"Een genetische ontwikkelingsstoornis, gekenmerkt door ectrodactylie, ectodermale dysplasie, en orofaciale schisis (gespleten lip/gehemelte)."},"pt":{"name":"Síndrome EEC","synonyms":["Síndrome de ectrodactilia-displasia ectodérmica-fenda lábio-palatina"],"definition":"A síndrome EEC é uma doença genética do desenvolvimento caracterizada por ectrodactilia, displasia ectodérmica e fendas orofaciais (fenda do lábio/palato)."},"pl":{"name":"Zespół EEC","synonyms":["Ektrodaktylia - dysplazja ektodermalna - rozszczep wargi/podniebienia"]},"cs":{"name":"EEC syndrom","synonyms":["Syndrom zahrnující ektrodaktylii, ektodermální dysplázii a rozštěp rtu/patra"]},"uk":{"name":"Синдром EEC","synonyms":["Синдром ектродактилії - ектодермальної дисплазії - розщілини губи/піднебіння"],"definition":"EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate)."},"zh":{"name":"外胚层发育不良型缺指畸形伴唇裂/腭裂综合征","synonyms":["缺指（趾）畸形-外胚层发育不良-唇裂/腭裂综合征"]},"tr":{"name":"EEC sendromu","synonyms":["Ektrodaktili-ektodermal displazi-yarık dudak / damak sendromu"]}},"xrefs":[{"source":"OMIM","code":"129900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604292","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1226292285"},{"source":"MONDO","code":"0010004","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406704","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1888,"name":"Ectrodactyly-ectodermal dysplasia without clefting syndrome","status":"inactive"},{"type":"Moved to","orpha":1889,"name":"Ectrodactyly-cleft palate syndrome","status":"inactive"},{"type":"Moved to","orpha":2389,"name":"Lewis-Pashayan syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98609,"name":"EEC syndrome and related disorders","classifications":[147,156,187,189]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":519288,"name":"Rare disorder with corneal involvement as a major feature","classifications":[189]},{"orpha":522558,"name":"Rare genetic disorder with corneal involvement as a major feature","classifications":[156]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"TP63","name":"tumor protein p63","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21959367[PMID]_24734328[PMID]","hgnc":"15979","ensembl":"ENSG00000073282","omim":"603273","loci":["3q28"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.11,"area":"Europe","status":"Validated","source":"ISBN:978-0-387-21753-6[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_ISBN:978-0-387-21753-6[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-17","source":"20556892[PMID]","terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001092","label":"Absent lacrimal punctum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000632","label":"Lacrimation abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001803","label":"Nail pits","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000679","label":"Taurodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008065","label":"Aplasia/Hypoplasia of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004275","label":"Duplication of hand bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000968","label":"Ectodermal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100533","label":"Inflammatory abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002217","label":"Slow-growing hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000068","label":"Urethral atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000359","label":"Abnormality of the inner ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010311","label":"Aplasia/Hypoplasia of the breasts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000621","label":"Entropion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000778","label":"Hypoplasia of the thymus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002665","label":"Lymphoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null}]}}