{"orpha":314041,"name":"Marfanoid habitus-inguinal hernia-advanced bone age syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314041/","orphanet_url":"https://www.orpha.net/en/disease/detail/314041","names":{"fr":{"name":"Syndrome marfanoïde-hernie inguinale-vieillissement osseux prématuré","definition":"Anomalie rare du développement avec anomalies du tissu conjonctif caractérisée par une grande taille, une hernie inguinale, une dysmorphie faciale (visage long et triangulaire, front proéminent, télécanthus, fentes palpébrales descendantes, ptosis bilatéral, paupières inférieures éversées, grandes oreilles, nez long, vermillon plein et éversé, palais étroit et ogival, encombrement dentaire), et des signes radiologiques d'âge osseux avancé. Les autres manifestations comprennent une hyperextensibilité articulaire, des doigts longs, une légère faiblesse musculaire, une myopie et des déformations du pied (hallux valgus, pied bot)."},"de":{"name":"Marfanoider Habitus-Inguinalhernie-Beschleunigte Knochenalterung-Syndrom"},"es":{"name":"Síndrome de hábito marfanoide-hernia inguinal-edad ósea avanzada","definition":"El síndrome de hábito marfanoide - hernia inguinal - edad ósea avanzada es un trastorno muy poco frecuente de defectos del desarrollo con afectación del tejido conectivo caracterizado por talla alta, hernia inguinal, dismorfia facial (que incluye rostro alargado y triangular, frente prominente, telecanto, fisuras palpebrales inclinadas hacia abajo, ptosis bilateral, párpados inferiores evertidos, orejas grandes, nariz larga, bermellón completo evertido, paladar ojival, apiñamiento dental) y evidencia radiológica de edad ósea avanzada. Otras manifestaciones adicionales incluyen articulaciones hiperextensibles, dedos largos, leve debilidad muscular, miopía y malformaciones del pie (tales como hallux valgus, pie zambo)."},"it":{"name":"Sindrome da habitus marfanoide, ernia inguinale, età ossea avanzata","definition":"La sindrome che associa l'habitus marfanoide, l'ernia inguinale e l'età ossea avanzata è un difetto molto raro dello sviluppo con interessamento del tessuto connettivo, caratterizzato da alta statura, ernia inguinale e dismorfismi facciali (viso allungato triangolare, fronte prominente, telecanto, rime palpebrali oblique verso il basso, ptosi bilaterale, palpebre inferiori anteverse, orecchie grandi, naso lungo, porzione mucosa delle labbra anteversa, palato stretto e ogivale, affastellamento dei denti). Le radiografie evidenziano un'età ossea avanzata. Altri segni clinici sono l'iperlassità articolare, le dita lunghe, la lieve debolezza muscolare, la miopia e le deformità dei piedi (alluce valgo, piedi equino-vari)."},"nl":{"name":"Marfanoïde habitus - liesbreuk - gevorderde botleeftijd-syndroom","synonyms":["Marfanoïde habitus - hernia inguinalis - gevorderde botleeftijd-syndroom"],"definition":"Marfanoïde habitus - liesbreuk - gevorderde botleeftijd-syndroom is een zeer zeldzaam ontwikkelingsdefect met betrokkenheid van bindweefsel, en wordt gekarakteriseerd door een grote gestalte, hernia inguinalis, faciale dysmorfie (waaronder een lang en driehoekig gelaat, groot voorhoofd, telecanthus, naar beneden hellende ooglidspleten, bilaterale ptose, eversie van de onderste oogleden, grote oren, lange neus, volle vermiljoenen, eversie van vermiljoenen, smal en hoog gebogen verhemelte, overlappende tanden), en radiologisch bewijs voor gevorderde botleeftijd. Bijkomende manifestaties zijn onder meer hypermobiele gewrichten, lange vingers/tenen, milde spierzwakte, myopie, en voetmisvormingen (i.e. hallux valgus, talipes equinovarus)."},"pt":{"name":"Síndrome de habitus marfanóide-hérnia inguinal-idade óssea avançada"},"pl":{"name":"Marfanoidalny wygląd - przepuklina pachwinowa - zaawansowany wiek kostny"},"cs":{"name":"Syndrom zahrnující marfanoidní habitus, tříselnou kýlu a urychlený kostní věk"},"uk":{"name":"Синдром марфаноїдного габітусу-пахової кили-пізнього кісткового віку","definition":"A rare developmental defect with connective tissue involvement disorder characterized by tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (i.e. hallux valgus, talipes equinovarus)."},"zh":{"name":"马凡体征-腹股沟疝-骨龄提前综合征","definition":"马方样体型-腹股沟疝-骨龄提前综合征是一种非常罕见的发育缺陷，伴有结缔组织受累，其特征是身材高大、腹股沟疝、面部畸形（包括脸长而呈三角形、前额突出、内眦距过宽、下睑下垂、下眼睑外翻，耳大、鼻长、红唇饱满外翻、上颚窄而高拱、牙齿拥挤），以及骨龄提前的影像学证据。其他表现包括关节过度伸展、手指长、轻度肌无力、近视和足部畸形（如拇趾外翻、马蹄内翻）。"},"tr":{"name":"Marfanoid habitus-inguinal herni-ileri kemik yaşı sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190606","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22489068[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}