{"orpha":217017,"name":"Zechi-Ceide syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Occipital atretic cephalocele-unusual facies-large feet syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217017/","orphanet_url":"https://www.orpha.net/en/disease/detail/217017","names":{"fr":{"name":"Syndrome de Zechi-Ceide","synonyms":["Syndrome d'encéphalocèle atrétique occipitale-visage atypique-pieds larges"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par un céphalocèle atrétique occipital associé à une dysmorphie faciale spécifique (front proéminent, fentes palpébrales étroites, hypoplasie de l'étage moyen du visage, oreilles malformées et étroites, nez et base nasale larges, présence de sillons sur la columelle et la pointe nasale, angulation latérale et hypoplasie des narines, philtrum court, lèvre supérieure fine, fente palatine/labiale, oligodontie sévère, menton proéminent) et à de larges pieds avec un hallux varus. Des cas de déficience intellectuelle, de retard de développement et d'hypoplasie des doigts et des ongles de pieds ont également été rapportés."},"de":{"name":"Zechi-Ceide-Syndrom","synonyms":["Okzipitale atretische Zephalozele - ungewöhnliche Fazies - große Füße"]},"es":{"name":"Síndrome de Zechi-Ceide","synonyms":["Encefalocele atrésico occipital-facies inusual-pies grandes"],"definition":"El síndrome de Zechi-Ceide es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por un encefalocele atrésico occipital asociado a dismorfia facial distintiva (consistente en frente prominente, fisuras palpebrales estrechas, hipoplasia mediofacial, orejas estrechas y malformadas, nariz y raíz nasal anchas, columela y punta nasal estriadas, narinas hipoplásicasy anguladas lateralmente, surco nasal corto, labio superior delgado, labio leporino / paladar hendido, oligodoncia severa, mentón prominente) y pies grandes ''en sandalia''. También se ha descrito discapacidad intelectual, retraso del desarrollo y dedos y uñas de los pies hipoplásicos."},"it":{"name":"Sindrome di Zechi-Ceide","synonyms":["Cefalocele occipitale atresico - facies atipica - piedi grandi"],"definition":"La sindrome di Zechi-Ceide è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da cefalocele occipitale atresico associato a dismorfismi facciali caratteristici (fronte prominente, rime palpebrali strette, anomalie della porzione media del viso, orecchie strette e malformate, naso e radice nasale ampi, presenza di solchi sulla punta del naso e sulla columella, narici ipoplasiche angolate lateralmente, filtro corto, labbro superiore sottile, labio/palatoschisi, marcata oligodontia, mento prominente) e piedi grandi con iperdistanziamento del primo e secondo dito. I pazienti possono presentare disabilità intellettiva, ritardo dello sviluppo ed ipoplasia delle unghie delle mani e dei piedi."},"nl":{"name":"Syndroom van Zechi-Ceide","synonyms":["Occipitale atretische cefalocele - ongewoon gelaat - grote voeten-syndroom"],"definition":"Syndroom van Zechi-Ceide is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door occipitale atretische cefalocèle, geassocieerd met een specifieke faciale dysmorfie (bestaande uit prominent voorhoofd, smalle ooglidspleten, deficiëntie van het middengezicht, smalle en misvormde oren, brede neus en neuswortel, gegroefde neuspunt en columella, lateraal gehoekte en hypoplastische neusgaten, kort filtrum, dunne bovenlip, gespleten lip/verhemelte, ernstige oligodontie, prominente kin) en grote voeten met veel ruimte tussen de grote en de tweede teen (hallux varus of 'sandal gap'). Intellectuele achterstand, ontwikkelingsachterstand en hypoplastische vinger- en teennagels werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome de Zechi-Ceide"},"pl":{"name":"Zespół Zechiego i Ceide'a","synonyms":["Potyliczna przepuklina mózgowa - niezwykła twarz - duże stopy"],"definition":"*Zespół Zechiego i Ceide'a jest rzadkim, genetycznie uwarunkowanym zespołem mnogich wad wrodzonych /zespołem dysmorficznym, który charakteryzuje się zarośniętą przepukliną potyliczną oraz specyficzną dysmorfią twarzy (wydatne czoło, wąskie szpary powiekowe, niedorozwój środkowej części twarzy, wąskie, zniekształcone małżowiny uszne, szeroki nos i szeroka nasada nosa, czubek i kolumienka nosa z rowkiem, hipoplastyczne, bocznie zakrzywione nozdrza, krótka rynienka podnosowa, cienka górna warga, rozszczep wargi/podniebienia, ciężka oligodoncja, wydatny podbródek) i dużymi stopami z przerwą sandałową. Opisywano również niepełnosprawność intelektualną, opóźnienie rozwoju oraz niedorozwój palców dłoni i stóp."},"cs":{"name":"Zechi-Ceideové syndrom","synonyms":["Syndrom zahrnující okcipitální atretickou cefalokélu, anomálie tváře a velkou nohu"]},"uk":{"name":"Синдром Зехі-Цейде","synonyms":["Синдром потиличого атретичного цефалоцеле - незвичної фасції-великих стоп"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by occipital atretic cephalocele associated with a specific facial dysmorphism (consisting of prominent forehead, narrow palpebral fissures, midface deficiency, narrow, malformed ears, broad nose and nasal root, grooved nasal tip and columella, laterally angulated, hypoplastic nares, short philtrum, thin upper lip, clift lip/palate, severe oligodontia, prominent chin) and large feet with sandal gap. Intellectual disability, developmental delay and hypoplastic finger and toenails have also been reported."},"zh":{"name":"Zechi-Ceide综合征","synonyms":["枕部闭锁性脑膨出-面部异常-大脚畸形综合征"],"definition":"Zechi-Ceide综合征是一种罕见的遗传性多发性先天性畸形综合征，其特征是与特定面部畸形相关的枕部闭锁性脑膨出（包括前额突出、睑裂狭窄、面中部缺陷、耳朵狭窄与畸形、鼻和鼻根宽大、鼻尖和鼻小柱沟，鼻孔侧翻，鼻孔发育不全，人中短，上唇薄，唇/腭倾斜，严重缺牙，下颚突出），草鞋足。也曾报道有智力障碍，发育迟缓和手指与脚趾甲发育不全的症状。"},"tr":{"name":"Zechi-Ceide sendromu","synonyms":["Oksipital atretik sefalosel-alışılmadık yüz-büyük ayak sendromu"]}},"xrefs":[{"source":"OMIM","code":"612916","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013036","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567865","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2752047","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10582","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"17907157[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17907157[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-27","source":"17907157[PMID]_22585531[PMID]","terms":[{"hpo":"HP:0011039","label":"Abnormal helix morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000932","label":"Abnormality of the posterior cranial fossa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004470","label":"Atretic occipital cephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410030","label":"Cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001833","label":"Long foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010743","label":"Short metatarsal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000402","label":"Stenosis of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004451","label":"Postauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012704","label":"Widened subarachnoid space","frequency":"Occasional (29-5%)","criteria":null}]}}