{"orpha":280576,"name":"Nestor-Guillermo progeria syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["NGPS"],"definition":"Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280576/","orphanet_url":"https://www.orpha.net/en/disease/detail/280576","names":{"fr":{"name":"Progéria de Nestor-Guillermo","synonyms":["NGPS"],"definition":"Syndrome progéroïde rare d'origine génétique caractérisé par un vieillissement prématuré associé à une ostéolyse sévère (notamment de la mandibule, des clavicules, des côtes, des phalanges distales et des os longs), une ostéoporose, une lipoatrophie généralisée, en l'absence de complications cardiovasculaires, athérosclérotiques et métaboliques (allongeant ainsi l'espérance de vie des patients). Les autres caractéristiques comprennent un retard de croissance, une rigidité articulaire (principalement des doigts, des mains, des genoux et des coudes), de larges sutures crâniennes, une dysmorphie faciale (grands yeux, arête nasale convexe, malocclusion, encombrement dentaire, vermillon de la lèvre fin, microrétrognathie) et présence de sourcils, de cils et de cheveux."},"de":{"name":"Nestor-Guillermo-Progeroid-Syndrom","synonyms":["NGPS"],"definition":"Das Nestor-Guillermo-Progerie-Syndrom ist ein seltenes, genetisches Progeroid-Syndrom. Es ist gekennzeichnet durch vorzeitig gealtertes Aussehen, das mit schwerer Osteolyse (insbesondere an Unterkiefer, Schlüsselbeinen, Rippen, distalen Phalangen und langen Knochen), Osteoporose und generalisierter Lipoatrophie einhergeht. Kardiovaskuläre, atherosklerotische und metabolischen Komplikationen fehlen und Patienten zeigen daher ein relativ langes Überleben. Weitere Merkmale sind Wachstumsverzögerung, Gelenksteifheit (hauptsächlich an Fingern, Händen, Knien und Ellbogen), breite Schädelnähte, dysmorphe Gesichtszüge (markante Augen, konvexe Nasenrücken, Malokklusion, Zahnverdichtung, dünne Lippenvermillion, Mikroretrognathien) und persistente Augenbrauen, Wimpern und Kopfhautbehaarung."},"es":{"name":"Síndrome de progeria de Néstor-Guillermo","synonyms":["NGPS"],"definition":"El síndrome de progeria de Néstor-Guillermo es un síndrome progeroide, genético y poco frecuente, caracterizado por aparente envejecimiento prematuro asociado a osteólisis grave (especialmente en mandíbula, clavículas, costillas, falanges distales y huesos largos), osteoporosis y lipoatrofia generalizada, así como ausencia de complicaciones cardiovasculares, ateroscleróticas y metabólicas, presentando una supervivencia relativamente larga. Otras características adicionales incluyen retraso en el crecimiento, rigidez articular (principalmente en los dedos, manos, rodillas y codos), suturas craneales anchas, rasgos faciales dismórficos (ojos prominentes, perfil nasal convexo, maloclusión, apiñamiento dental, bermellón de los labios delgado, microrretrognatia) y cejas, pestañas y cabello persistentes."},"it":{"name":"Sindrome progeroide di Nestor-Guillermo","synonyms":["NGPS"],"definition":"La sindrome progeroide di Nestor-Guillermo è una sindrome genetica rara, caratterizzata da un aspetto di invecchiamento precoce associato ad osteolisi grave (che interessa in particolare la mandibola, le clavicole, le costole, le falangi distali e le ossa lunghe), osteoporosi e lipoatrofia generalizzata. Non sono associate complicanze cardiovascolari, aterosclerotiche o metaboliche. L'aspettativa di vita è relativamente lunga. Altri segni clinici sono il ritardo della crescita, la rigidità articolare (soprattutto nelle dita, nelle mani, nelle ginocchia e nei gomiti), l'ampliamento delle suture craniche, i dismorfismi facciali (occhi prominenti, sella nasale convessa, malocclusione, denti affastellati, assottigliamento della porzione mucosa delle labbra, microretrognazia) e sopracciglia, ciglia e capelli folti."},"nl":{"name":"Progeriasyndroom van Nestor-Guillermo","synonyms":["NGPS"],"definition":"Nestor-Guillermo progeriasyndroom is een zeldzaam, genetisch progeroïd syndroom dat gekarakteriseerd wordt door een prematuur verouderd uiterlijk, geassocieerd met ernstige osteolyse (vooral van onderkaak, sleutelbeenderen, ribben, distale falangen, en pijpbeenderen), osteoporose, gegeneraliseerde lipoatrofie en afwezigheid van cardiovasculaire, atherosclerotische en metabole complicaties, en dat een relatief lange overleving vertoont. Bijkomende kenmerken zijn onder meer groeiretardatie, stijfheid van gewrichten (vooral aan vingers, handen, knieën en ellebogen), brede schedelnaden, dysmorfe gelaatskenmerken (prominente ogen, convexe neusrug, malocclusie, overlappende tanden, dun vermiljoen van de lippen, microretrognathie) en persisterende wenkbrauwen, wimpers en hoofdhaar."},"pt":{"name":"Síndrome progeria de Nestor-Guillermo","synonyms":["NGPS"]},"pl":{"name":"Zespół progerii Nestora i Guillermo","synonyms":["NGPS"]},"cs":{"name":"Nestorův-Guillermův progeroidní syndrom","synonyms":["NGPS","Nestor-Guillermův progeroidní syndrom"]},"uk":{"name":"Синдром прогерії Нестора-Гільєрмо","synonyms":["NGPS"],"definition":"Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair."},"zh":{"name":"Nestor-Guillermo早衰综合征","synonyms":["NGPS"],"definition":"Nestor-Guillermo早衰综合征是一种罕见的遗传性早衰综合征，其特征是与严重溶骨相关的早衰面容（尤其是下颌骨、锁骨、肋骨、远端指骨和长骨）、骨质疏松、全身性脂肪萎缩以及心血管缺如、动脉粥样硬化和代谢并发症，生存期相对较长。其他特征包括生长迟缓、关节僵硬（主要是手指、手、膝盖和肘部）、颅缝增宽、畸形面部（突眼、凸鼻嵴、牙齿错位咬合畸形、牙列拥挤、薄唇红、小退缩下颌）和连眉、睫毛和头皮毛发。"},"tr":{"name":"Nestor-Guillermo progeria sendromu","synonyms":["NGPS"]}},"xrefs":[{"source":"OMIM","code":"614008","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013523","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3151446","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11008","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":93449,"name":"Primary osteolysis","classifications":[147,156,199]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"BANF1","name":"barrier to autointegration nuclear assembly factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21549337[PMID]","hgnc":"17397","ensembl":"ENSG00000175334","omim":"603811","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"21932319[PMID]_21549337[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}