{"orpha":401942,"name":"Familial median cleft of the upper and lower lips","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401942/","orphanet_url":"https://www.orpha.net/en/disease/detail/401942","names":{"fr":{"name":"Fente labiale médiane supérieure et inférieure, forme familiale","definition":"La fente labiale médiane supérieure et inférieure, forme familiale est une anomalie orofaciale isolée et rare. Elle est caractérisée par une fente médiane incomplète de la lèvre inférieure (limitée au vermillon, sans atteinte musculaire) et supérieure (avec atteinte musculaire), un double frein labial et la fusion de la gencive supérieure et de la muqueuse labiale supérieure (ce qui conduit à un pli vestibulaire supérieur superficiel), associés à un mauvais alignement dentaire et une augmentation de la distance interdentaire entre les incisives médianes supérieures et inférieures. Une expressivité variable a été rapportée au sein d'une famille affectée."},"de":{"name":"Mediane Spalte der Ober- und Unterlippe, familiäre Form","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch unvollständige mediane Spalten sowohl der Unterlippe (beschränkt auf den Lippenrotbereich, ohne Muskelbeteiligung) als auch der Oberlippe (mit Muskelbeteiligung), doppeltes Lippenbändchen und eine Fusion der oberen Gingiva und der oberen Lippenschleimhaut (was zu einer flachen oberen Vestibulärfalte führt) gekennzeichnet ist, zusätzlich zu einer schlechten Zahnstellung und einem vergrößerten Interdentalabstand zwischen den unteren und oberen mittleren Schneidezähnen."},"es":{"name":"Hendidura media del labio superior e inferior familiar","definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por hendiduras medias incompletas tanto del labio inferior (limitado al bermellón, sin afectación muscular) como del superior (con afectación muscular), frenillo labial doble y fusión de la mucosa gingival y labial superior (resultando en un pliegue vestibular superior poco profundo), además de incorrecta alineación dental y aumento de la distancia interdental entre los incisivos medios inferiores y superiores."},"it":{"name":"Schisi mediana familiare del labbro superiore e inferiore","definition":"La schisi mediana familiare del labbro superiore e inferiore è un difetto oro-facciale raro e isolato, caratterizzato dalla schisi mediana incompleta sia del labbro inferiore (limitatamente alla porzione mucosa, senza interessamento muscolare), che del labbro superiore (con interessamento muscolare), doppio frenulo labiale e fusione della muscosa della gengiva superiore e del labbro superiore (che comporta la formazione di una plica vestibolare superiore superficiale), scarso allineamento dei denti e aumento della distanza tra gli incisivi mediani inferiori e superiori. In una famiglia è stata riportata un'espressività variabile."},"nl":{"name":"Familiale mediane schisis van boven- en onderlip","synonyms":["Familiale mediaan gespleten boven- en onderlip"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door onvolledige mediane spleten van zowel onderlip (beperkt tot vermiljoen, zonder betrokkenheid van spier) als bovenlip (met betrokkenheid van spieren), dubbele tongriem en fusie van bovenste gingivaal en bovenste labiaal slijmvlies (met als resultaat een ondiepe bovenste vestibulaire plooi), met daarnaast slechte uitlijning van tanden en toegenomen interdentale afstand tussen de middelste snijtanden onder- en bovenaan."},"pt":{"name":"Fenda mediana do lábio superior e inferior, forma familiar"},"pl":{"name":"Rodzinny przyśrodkowy rozszczep górnej i dolnej wargi","definition":"Rzadka wada rozwojowa występująca w okresie embriogenezy, charakteryzująca się niepełnym pośrodkowym rozszczepem wargi dolnej (ograniczonej do czerwieni, bez zajęcia mięśni) i wargi górnej (z zajęciem mięśni), podwójnym wędzidełkiem wargowym oraz zrośnięciem błony śluzowej górnego dziąsła i górnej wargi ( co skutkuje płytkim górnym fałdem przedsionkowym), a także nieprawidłowym ustawieniem zębów i zwiększoną odległością międzyzębową pomiędzy dolnymi i górnymi środkowymi siekaczami."},"cs":{"name":"Familiární mediánní rozštěp horního a spodního rtu"},"uk":{"name":"Сімейна серединна розщілина верхньої та нижньої губи","definition":"A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors."},"zh":{"name":"家族性上下唇正中裂","definition":"家族性上唇和下唇中裂是一种罕见且单发的颌面缺损，其临床特征包括下唇非完全性中裂（仅限于唇红缘，无肌肉受累）和上唇（有肌肉受累），双唇系带，上牙龈和上唇黏膜融合（导致前庭褶皱变浅），以及牙齿排列不齐，以及上下中切牙之间的齿间距离增加。在受影响的家庭中表型差异较大。"},"tr":{"name":"Üst ve alt dudakların ailesel medyan yarığı"}},"xrefs":[{"source":"OMIM","code":"615892","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q36.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014388","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305376","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":414726,"name":"Genetic facial cleft","classifications":[156]},{"orpha":141234,"name":"Median facial cleft","classifications":[147,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"23860042[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23860042[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-25","source":"23860042[PMID]","terms":[{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:3000010","label":"Abnormality of orbicularis oris muscle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000326","label":"Abnormality of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010281","label":"Cleft lower lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000699","label":"Diastema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012292","label":"Fusion of gums","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040079","label":"Irregular dentition","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null}]}}