{"orpha":221054,"name":"Acrocephalopolydactyly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acrocephalopolydactylous dysplasia","Elejalde acrocephalopolydactyly"],"definition":"An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-221054/","orphanet_url":"https://www.orpha.net/en/disease/detail/221054","names":{"fr":{"name":"Acro-céphalo-polydactylie","synonyms":["Acro-céphalo-polydactylie d'Elejalde","Dysplasie acro-céphalo-polydactylique"],"definition":"Maladie autosomique récessive létale extrêmement rare caractérisée par un poids de naissance élevé, un corps globulaire gonflé, un oedème généralisé, des membres courts, une polydactylie post-axiale, une peau épaisse, une dysmorphie faciale (fentes palpébrales inclinées, hypertélorisme, épicanthus, oreilles dysplasiques) et, chez certains patients, une organomégalie, une craniosynostose avec acrocéphalie, une omphalocèle, une fente palatine et une cryptorchidie. Moins de 10 cas ont été rapportés à ce jour."},"de":{"name":"Akrozephalopolydaktylie","synonyms":["Akrozephalopolydaktyle Dysplasie","Elejalde-Syndrom"]},"es":{"name":"Acrocefalopolidactilia","synonyms":["Acrocefalopolidactilia de Elejalde","Displasia acrocefalodactílica","Displasia acrocefalopolidactílica"],"definition":"Es un trastorno letal autosómico recesivo muy poco frecuente caracterizado por exceso de peso al nacer, hinchazón globulosa del cuerpo, edema generalizado, extremidades cortas, polidactilia postaxial, piel gruesa, dismorfia facial, (fisuras palpebrales inclinadas, hipertelorismo, pliegues epicánticos y orejas displásicas), exceso de tejido conectivo, displasia renal y, en algunos afectados, organomegalia, craneosinostosis con acrocefalia, onfalocele, paladar hendido y criptorquidia. Hasta la fecha se han descrito menos de 10 casos en la literatura."},"it":{"name":"Acrocefalopolidattilia","synonyms":["Acrocefalopolidattilia di Elejalde","Displasia acrocefalopolidattilica"],"definition":"L'acrocefalopolidattilia o sindrome di Elejalde, è una malattia autosomica recessiva molto rara e letale, caratterizzata da un elevato peso alla nascita, aspetto globoso del corpo, edema generalizzato, arti corti, polidattilia postassiale, cute spessa, dimorfismi facciali (rime palpebrali oblique, ipertelorismo, epicanto, orecchie displastiche), eccesso di tessuto connettivo, displasia renale e, in alcuni pazienti, organomegalia, craniosinostosi con acrocefalia, onfalocele, palatoschisi e criptorchidismo. Sono stati descritti meno di dieci casi."},"nl":{"name":"Acrocefalopolydactylie","synonyms":["Acrocefalopolydactyleuze dysplasie","Acrocefalopolydactylie van Elejalde"],"definition":"Een uiterst zeldzame, letale, autosomaal recessieve aandoening, gekarakteriseerd door een buitensporig geboortegewicht, een gezwollen bolvormig lichaam, gegeneraliseerd oedeem, korte ledematen, postaxiale polydactylie, dikke huid, faciale dysmorfie (hellende ooglidspleten, hypertelorisme, epicanthusplooien, dysplastische oren), excessief bindweefsel, renale dysplasie, en bij sommige patiënten organomegalie, craniosynostose met acrocefalie, omfalocele, gespleten verhemelte, en cryptorchisme. Tot op heden werden minder dan 10 gevallen gerapporteerd."},"pt":{"name":"Acrocefalopolidactilia","synonyms":["Acrocefalopolidactilia Elejalde","Displasia acrocefalopolidactilosa"]},"pl":{"name":"Akrocefalopolidaktylia","synonyms":["Zespół Elejalde"]},"cs":{"name":"Akrocefalopolydaktylie","synonyms":["Akrocefalopolydaktylní dysplázie","Elejaldeův syndrom"]},"uk":{"name":"Акроцефалополідактилія","synonyms":["Акроцефалополідактилічна дисплазія","Акроцефалополідактилія Еледжальда"],"definition":"An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date."},"zh":{"name":"尖头多指（趾）畸形","synonyms":["尖头多指（趾）畸形"],"definition":"一种极为罕见的致死性常染色体隐性遗传疾病，其特征是出生体重过大，身体球状肿胀，全身水肿，四肢短，轴后多指（趾）畸形，皮肤厚，面部畸形（睑裂倾斜，两眼距增宽，内眦赘皮，耳朵发育不良），结缔组织过多，肾发育不良，部分患者可见器官肿大，颅缝早闭伴尖头畸形、脐膨出、腭裂和隐睾症。迄今为止报道的病例不到10例。"},"tr":{"name":"Akrosefalopolidaktili","synonyms":["Elejalde sendromu","Akrosefalopolidaktilöz displazi"]}},"xrefs":[{"source":"OMIM","code":"200995","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":"1177551296"},{"source":"MONDO","code":"0008709","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C573722","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495588","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2096","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"22413886[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22413886[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-01-04","source":"16969863[PMID]","terms":[{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000234","label":"Abnormality of the head","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000263","label":"Oxycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005458","label":"Premature closure of fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Very frequent (99-80%)","criteria":null}]}}