{"orpha":659873,"name":"Wormian bones-micrognathia-abnormal dentition-progeroid syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["LEMD2-associated nuclear envelopathy with early progeroid appearance","Marbach-Rustad progeroid syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by progeroid appearance (with triangular face, prominent eyes, crooked nose, septum deviation, micrognathia, dental crowding, supernumenary teeth and delayed dentition), microcephaly, skeletal features including Wormian bones and hypoplastic clavicles, generalized lipoathrophy, thin skin, prominent veins and intention tremor. Additional clinical features may include developmental delay, short stature and low bone density.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-659873/","orphanet_url":"https://www.orpha.net/en/disease/detail/659873","names":{"fr":{"name":"Syndrome des os wormiens-micrognathie-dentition anormale-apparence progéroïde","synonyms":["Anomalie de l'enveloppe nucléaire avec d'apparence progéroïde précoce lié à LEMD2","Syndrome d'apparence progéroïde de Marbach-Rustad"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une apparence progéroïde (visage triangulaire, yeux exorbités, nez crochu, déviation de la cloison nasale, micrognathie, encombrement dentaire, dents surnuméraires et retard de l'éruption dentaire), une microcéphalie, des anomalies squelettiques comprenant des os wormiens et des clavicules hypoplasiques, une lipoatrophie généralisée, une peau fine, des veines apparentes et un tremblement intentionnel. D'autres caractéristiques cliniques peuvent inclure un retard de développement, une petite taille et une faible densité osseuse."},"de":{"name":"Wormsche Knochen-Mikrognathie-abnormale Dentition-Progeroid-Syndrom","synonyms":["LEMD2-assoziierte nukleäre Envelopathie mit frühem progeroidem Erscheinungsbild","Marbach-Rustad-Progeroid-Syndrom"]},"es":{"name":"Huesos wormianos-micrognatia-dentición anómala-síndrome progeroide","synonyms":["Envelopatía nuclear asociada a LEMD2 con apariencia progeroide precoz"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por apariencia progeroide (con rostro triangular, ojos prominentes, nariz torcida, desviación del tabique nasal, micrognatia, apiñamiento dental, dientes supernumerarios y dentición tardía), microcefalia, hallazgos esqueléticos que incluyen huesos wormianos e hipoplasia de las clavículas, lipoatrofia generalizada, piel fina, venas prominentes y temblor intencional. Otras características clínicas pueden incluir retraso del desarrollo, talla baja y disminución de la densidad ósea."},"it":{"name":"Sindrome ossa wormiane-micrognazia-anomalie della dentizione-aspetto progeroide","synonyms":["Anomalie della membrana nucleare correlate a LEMD2 con aspetto progeroide precoce","Sindrome progeroide di Marbach-Rustad"]},"nl":{"name":"Wormiaanse botstructuren - micrognathie - abnormaal gebit - progeroïde kenmerken-syndroom","synonyms":["LEMD2-geassocieerde nucleaire envelopathie met vroegtijdig progeroïd uiterlijk","Progeroïd syndroom van Marbach-Rustad"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door een progeroïd uiterlijk (met een driehoekig gelaat, prominente ogen, scheefstaande neus, deviatie van neusseptum, micrognathie, overlappende tanden, overtallige gebitselementen en vertraagde tanderuptie), microcefalie, skeletafwijkingen zoals Wormiaanse botstructuren en hypoplastische sleutelbeenderen, gegeneraliseerde lipoatrofie, dunne huid, prominente aders en intentietremor. Mogelijke bijkomende klinische kenmerken zijn ontwikkelingsachterstand, kleine gestalte en lage botdensiteit."},"pt":{"name":"Síndrome de ossos wormianos-micrognatia-anomalias da dentição-progeria","synonyms":["Envelopatia nuclear com aparência progeroide precoce LEMD2-associada","Síndrome Marbach-Rustad progeroide"]},"pl":{"name":"Zespół z kostkami Worma, mikrognacją, nieprawidłowym uzębieniem i cechami progeroidalnymi","synonyms":["LEMD2-associated nuclear envelopathy with early progeroid appearance","Marbach-Rustad progeroid syndrome"]},"cs":{"name":"Syndrom zahrnující wormianské kůstky, mikrognatii, abnormální dentici a progerii","synonyms":["LEMD2-associated nuclear envelopathy with early progeroid appearance","Marbach-Rustad progeroid syndrome"]},"uk":{"name":"Синдром червʼякових кісток-мікрогнатії-аномалії зубного ряду-прогерії","synonyms":["LEMD2-асоційована ядерна енцефалопатія з ранньою появою прогероїдів","Прогероїдний синдром Марбаха-Рустада"]}},"xrefs":[{"source":"OMIM","code":"619322","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859147","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"859147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5543388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"LEMD2","name":"LEM domain nuclear envelope protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37867468[PMID]_30905398[PMID]","hgnc":"21244","ensembl":"ENSG00000161904","omim":"616312","loci":["6p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"30905398[PMID]_37867468[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"30905398[PMID]_37867468[PMID]"}],"phenotypes":null}