{"orpha":1897,"name":"EEM syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1897/","orphanet_url":"https://www.orpha.net/en/disease/detail/1897","names":{"fr":{"name":"Syndrome EEM","synonyms":["Syndrome de dysplasie ectodermique-ectrodactylie-dystrophie maculaire"],"definition":"Syndrome rare de dysplasie ectodermique caractérisé par l'association d'une dysplasie ectodermique (avec une hypotrichose affectant les cheveux, les sourcils et les cils, et une anodontie partielle), d'une ectrodactylie et d'une dystrophie maculaire (apparaissant comme une atrophie géographique centrale de l'épithélium pigmentaire de la rétine et de la couche choriocapillaire de la zone maculaire avec des hyperpigmentations, épargnant les plus gros vaisseaux choroïdiens). D'autres anomalies variables des membres (y compris l'absence ou des malformations, la polydactylie, la syndactylie ou la camptodactylie) ont également été décrites, les mains étant souvent plus sévèrement touchées que les pieds."},"de":{"name":"EEM-Syndrom","synonyms":["Dysplasie, ektodermale - Ektrodaktylie - Makuladystrophie"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch die Assoziation von ektodermaler Dysplasie (mit Hypotrichose, die Kopfhaar, Augenbrauen und Wimpern betrifft, und teilweiser Anodontie), Ektrodaktylie und Makuladystrophie (die als zentrale geografische Atrophie des retinalen Pigmentepithels und der choriokapillären Schicht des Makulabereichs mit groben Hyperpigmentierungen und Einsparung der größeren choroidalen Gefäße auftritt) gekennzeichnet ist. Es wurden auch variable zusätzliche Gliedmaßendefekte (einschließlich Verlust-Fehlbildungen, Polydaktylie, Syndaktylie oder Camptodaktylie) beschrieben, wobei die Hände oft stärker betroffen sind als die Füße."},"es":{"name":"Síndrome EEM","synonyms":["Displasia ectodérmica-ectrodactilia-distrofia macular"],"definition":"Es un síndrome de displasia ectodérmica poco frecuente caracterizado por la asociación de displasia ectodérmica (con hipotricosis que afecta al cuero cabelludo, cejas y pestañas y anodoncia parcial), ectrodactilia y distrofia macular (que se manifiesta como una atrofia geográfica central del epitelio pigmentario de la retina y la capa coriocapilar del área macular con hiperpigmentaciones groseras y preservación de los vasos coroideos más grandes). También se han descrito defectos variables de las extremidades (incluyendo deformidades por ausencia, polidactilia, sindactilia o camptodactilia) y, por lo general, las manos se ven más afectadas que los pies."},"it":{"name":"Sindrome EEM","synonyms":["Displasia ectodermica - ectrodattilia - distrofia maculare"],"definition":"Si tratta di una displasia ectodermica rara, caratterizzata da displasia ectodermica (con ipotricosi che interessa i capelli, le sopracciglia e le ciglia, e anodontia parziale), ectrodattilia e distrofia maculare (che si manifesta sotto forma di atrofia centrale localizzata dell'epitelio pigmentato della retina e dello strato coriocapillare della macula con iperpigmentazione grossolana, mentre i vasi più grandi della coroide sono risparmiati). I pazienti possono presentare anche anomalie variabili degli arti (agenesia, polidattilia, sindattilia o camptodattilia); di solito le mani sono colpite in maniera più grave rispetto ai piedi."},"nl":{"name":"EEM-syndroom","synonyms":["Ectodermale dysplasie - ectrodactylie - maculadystrofie-syndroom"],"definition":"Een zeldzaam syndroom van ectodermale dysplasie, gekarakteriseerd door de associatie van ectodermale dysplasie (met hypotrichose die haar van scalp, wenkbrauwen en wimpers aantast, en partiële anodontie), ectrodactylie, en maculadystrofie (die verschijnt als een centrale geografische atrofie van retinaal pigmentepitheel en choriocapillaire laag van macula met ruwe hyperpigmentatie bespaard blijven van grotere choroïdale bloedvaten). Er werden ook variabele bijkomende ledemaatdefecten beschreven (waaronder afwezigheid van ledemaat, polydactylie, syndactylie, of camptodactylie), waarbij handen ernstiger getroffen worden dan voeten."},"pt":{"name":"Síndrome EEM","synonyms":["Síndrome de displasia ectodérmica-ectrodactilia-distrofia da mácula"]},"pl":{"name":"Zespół EEM","synonyms":["Dysplazja ektodermalna - ektrodaktylia - dystrofia plamki"]},"cs":{"name":"EEM syndrom","synonyms":["Syndrom zahrnující ektodermální dysplázii, ektrodaktylii a makulární dystrofii"]},"uk":{"name":"Синдром EEM","synonyms":["Синдром ектодермальної дисплазії-екстродактилії-макулярної дистрофії"],"definition":"A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet."},"zh":{"name":"外胚层发育不良、缺指（趾）畸形和黄斑营养不良综合征","synonyms":["外胚层发育不良-缺指（趾）畸形-黄斑营养不良综合征"]},"tr":{"name":"EEM sendromu","synonyms":["Ektodermal displazi-ektrodaktili-maküler distrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"225280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1240142461"},{"source":"MONDO","code":"0009155","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536190","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857041","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"CDH3","name":"cadherin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15805154[PMID]_22140374[PMID]","hgnc":"1762","ensembl":"ENSG00000062038","omim":"114021","loci":["16q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"15805154[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007754","label":"Macular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000488","label":"Retinopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001592","label":"Selective tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}