{"orpha":920,"name":"Ablepharon macrostomia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AMS"],"definition":"A rare congenital malformation characterized by absent or severely underdeveloped eyelids (ablepharon), a lateral enlargement of the mouth (macrostomia), malformed external ears, and redundant skin folds.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-920/","orphanet_url":"https://www.orpha.net/en/disease/detail/920","names":{"fr":{"name":"Syndrome d'ablépharie-macrostomie","synonyms":["AMS"],"definition":"Malformation congénitale rare caractérisée par l'absence ou un développement très insuffisant des paupières (ablépharie), un élargissement de la bouche au niveau des commissures (macrostomie), une malformation des oreilles externes et des plis cutanés superflus."},"de":{"name":"Ablepharon-Makrostomie-Syndrom","synonyms":["AMS"],"definition":"Eine seltene angeborene Fehlbildung, die durch fehlende oder stark unterentwickelte Augenlider (Ablepharon), eine seitliche Vergrößerung des Mundes (Makrostomie), fehlgebildete äußere Ohren und überschüssige Hautfalten gekennzeichnet ist."},"es":{"name":"Síndrome de abléfaron-macrostomía","definition":"Es un síndrome de múltiples malformaciones congénitas extremadamente infrecuente. Se caracteriza por la asociación de abléfaron, macrostomia, orejas anormales, sindactilia de las manos y de los pies, alteraciones en la piel (tales como piel seca y áspera y pliegues redundantes), cabello escaso o ausente, malformaciones genitales y retraso en el desarrollo (en 2/3 de los casos). Otras manifestaciones descritas incluyen hipoplasia malar, pezones ausentes o hipoplásicos, anomalías umbilicales y retraso en el crecimiento. Se trata de un trastorno generalmente esporádico, aunque se han descrito algunos casos familiares, que presenta un solapamiento clínico significativo con el síndrome de Fraser."},"it":{"name":"Sindrome ablefaron-macrostomia","synonyms":["AMS"],"definition":"La sindrome ablefaria-mascrostomia è una sindrome da malformazioni congenite multiple molto rara, caratterizzata dall'associazione tra ablefaria, macrostomia, anomalie dell'orecchio esterno, sindattilia delle mani e dei piedi, segni cutanei (pelle secca e ruvida, pliche cutanee ridondanti), capelli assenti o radi, malformazioni genitali e ritardo dello sviluppo (2/3 dei casi). Altri segni clinici sono 'ipoplasia malare, l'agenesia/ipoplasia dei capezzoli, le anomalie dell'ombelico, il ritardo della crescita. La malattia di solito è sporadica, anche se sono stati osservati alcuni casi familiari, che mostrano una sovrapposizione clinica significativa con la sindrome di Fraser (si veda questo termine). La malattia è dovuta ad una mutazione eterozigote del gene TWIST2, che codifica per la proteina 1 espressa nel derma."},"nl":{"name":"Ablefaron - macrostomie-syndroom","synonyms":["AMS","Ablepharon - macrostomie-syndroom"],"definition":"Een zeldzame congenitale malformatie, gekenmerkt door afwezige of sterk onderontwikkelde oogleden (ablepharon), een laterale vergroting van de mond (macrostomie), misvormde uitwendig oren, en overtollige huidplooien."},"pt":{"name":"Síndrome de abléfaro-macrostomia","synonyms":["MAS"]},"pl":{"name":"Zespół braku/niedorozwoju powiek i makrostomii","synonyms":["AMS"],"definition":"Zespół braku powiek i makrostomii jest niezwykle rzadkim zespołem wad wrodzonych, charakteryzującym się brakiem powiek, makrostomią, nieprawidłową budową ucha zewnętrznego, syndaktylią dłoni i stóp, objawami skórnymi (takimi jak sucha i szorstka skóra czy nadmiar skóry), brakiem włosów lub ich przerzedzeniem, wadami rozwojowymi narządów płciowych oraz opóźnieniem rozwoju (w 2/3 przypadków). Inne zgłaszane objawy to hipoplazja kości policzkowych, brak lub niedorozwój sutków, nieprawidłowości pępka oraz opóźnienia wzrostu. Jest to niezwykle rzadkie zaburzenie, choć zgłoszono kilka przypadków rodzinnych. Obraz kliniczny jest bardzo zbieżny z zespołem Frasera."},"cs":{"name":"Syndrom zahrnující ablefarii a makrostomii","synonyms":["Syndrom zahrnující ablefaron a makrostomii","Syndrom zahrnující ablepharon a makrostomii"]},"uk":{"name":"Синдром аблефарона макростомії","definition":"An extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome."},"zh":{"name":"无睑-巨口综合征"},"tr":{"name":"Ablefaron makrostomi sendromu"}},"xrefs":[{"source":"OMIM","code":"200110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"240063776"},{"source":"MONDO","code":"0008693","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535557","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860224","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083860","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":98563,"name":"Microblepharon-ablephara syndrome","classifications":[147,156,189]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"TWIST2","name":"twist family bHLH transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26119818[PMID]","hgnc":"20670","ensembl":"ENSG00000233608","omim":"607556","loci":["2q37.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":21.0,"area":"Worldwide","status":"Validated","source":"39792429[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27196381[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011224","label":"Ablepharon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002223","label":"Absent eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000561","label":"Absent eyelashes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001582","label":"Redundant skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000055","label":"Abnormality of female external genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003187","label":"Breast hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001126","label":"Cryptophthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007392","label":"Excessive wrinkled skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000963","label":"Thin skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}