{"orpha":276432,"name":"Ogden syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Premature aging appearance-developmental delay-cardiac arrhythmia syndrome"],"definition":"Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276432/","orphanet_url":"https://www.orpha.net/en/disease/detail/276432","names":{"fr":{"name":"Syndrome d'Ogden","synonyms":["Syndrome d'aspect progérioïde-retard de développement-arythmie cardiaque"],"definition":"Un syndrome génétique progéroïde rare caractérisé par un phénotype variable comportant un retard de croissance post-natale, un retard sévère du développement global, une hypotonie, une dysmorphie faciale non spécifique donnant un aspect âgé, ainsi qu'une cryptorchidie, des arythmies cardiaques et des anomalies squelettiques. Les patients présentent des fontanelles très ouvertes, une hypotonie surtout troncale, une démarche myopathique avec une hypertonie des extrémités, des mains et des pieds de petite taille, des gros orteils larges, une scoliose et une peau redondante avec peu de graisse sous-cutanée."},"de":{"name":"Ogden-Syndrom","synonyms":["Vorzeitige gealterte Erscheinung-Entwicklungsverzögerung-Herzrhythmusstörung-Syndrom"],"definition":"Das Ogden-Syndrom ist ein genetisch bedingte progeroide Erkrankung, die durch einen variablen Phänotyp gekennzeichnet ist, der eine verzögerte postnatale Entwicklung, eine schwere globale Entwicklungsverzögerung, Hypotonie, unspezifische dysmorphe Gesichtszüge mit gealtertem Aussehen und Kryptorchismus sowie Herzrhythmusstörungen und Skelettanomalien umfasst. Typische Manifestationen sind weit geöffnete Fontanellen, überwiegende Hypotonie des Rumpfes, watschelnder Gang mit Hypertonie der Extremitäten, kleine Hände und Füße, breite Großzehen, Skoliose und überschüssige Haut mit fehlendem Unterhautfettgewebe."},"es":{"name":"Síndrome de Ogden","synonyms":["Síndrome de aspecto envejecido prematuro-retraso del desarrollo-arritmia cardíaca"],"definition":"Es un síndrome progeroide genético y poco frecuente caracterizado por un fenotipo variable que incluye retraso del crecimiento postnatal, grave retraso global del desarrollo, hipotonía, facies dismórfica inespecífica con aspecto envejecido y criptorquidia, así como arritmias cardíacas y anomalías esqueléticas. Los afectados presentan típicamente fontanelas amplias y abiertas, hipotonía truncal, marcha anserina con hipertonía de las extremidades, manos y pies pequeños, dedos gordos de los pies anchos, escoliosis y piel redundante con escasez de grasa subcutánea."},"it":{"name":"Sindrome di Ogden","synonyms":["Sindrome di Ogden"],"definition":"La sindrome di Ogden è una malattia progeroide genetica rara, caratterizzata da un quadro clinico variabile che comprende il ritardo della crescita postnatale, il grave ritardo dello sviluppo globale, l'ipotonia e alcuni dismorfismi facciali aspecifici, associati ad un aspetto senile, criptorchidismo, aritmie cardiache e anomalie scheletriche. Di solito i pazienti presentano una fontanella ampia, ipotonia prevalentemente al tronco, andatura a base allargata con ipertonia degli arti, mani e piedi piccoli, alluci larghi, scoliosi, cute ridondante e assenza del grasso sottocutaneo."},"nl":{"name":"Syndroom van Ogden","synonyms":["Vroegtijdige uiterlijke veroudering - ontwikkelingsachterstand - hartritmestoornis-syndroom"],"definition":"Syndroom van Ogden is een zeldzaam, genetisch progeroïd syndroom dat gekarakteriseerd wordt door een variabel fenotype met onder meer postnatale groeivertraging, ernstige algehele ontwikkelingsachterstand, hypotonie, niet-specifiek dysmorf gelaat met verouderd uiterlijk en cryptorchidie, alsook hartritmestoornissen en skeletanomalieën. Patiënten vertonen doorgaans wijd geopende fontanellen, voornamelijk truncale hypotonie, een waggelgang met hypertonie van de ledematen, kleine handen en voeten, brede grote tenen, scoliose en overtollige huid met gebrek aan subcutaan vet."},"pt":{"name":"Fenótipo envelhecido - anomalias craniofaciais - hipotonia - atraso de desenvolvimento - criptorquidia - arritmia cardíaca"},"pl":{"name":"Zespół przedwczesny starczy wygląd-opóźnienie rozwoju-arytmia serca","synonyms":["Zespół Ogdena"]},"cs":{"name":"Syndrom zahrnující předčasné stárnutí, opoždění vývoje a srdeční arytmie","synonyms":["Ogdenský syndrom"]},"uk":{"name":"Синдром Огдена","synonyms":["Синдром передчасного старіння - затримки розвитку - серцевої аритмії"],"definition":"Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat."},"zh":{"name":"Ogden综合征","synonyms":["早衰外表-发育迟缓-心律失常综合征"],"definition":"Ogden综合征是一种罕见的遗传性类前生殖综合征，其特征是生后生长迟缓、严重的整体发育迟缓、张力减退、具有老年外观的非特异性畸形相和隐睾症，以及心律不齐和骨骼异常。患者通常表现囟门增宽，主要是躯干张力减退，步鸭步，四肢张力增高，手脚小，大脚趾宽，脊柱侧凸，赘肉，皮下脂肪缺乏。"},"tr":{"name":"Ogden sendromu","synonyms":["Erken yaşlanma görünümü-gelişme geriliği-kardiyak aritmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"300855","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010457","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3275447","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082376","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":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]}],"children":[],"genes":[{"symbol":"NAA10","name":"N-alpha-acetyltransferase 10, NatA catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21700266[PMID]","hgnc":"18704","ensembl":"ENSG00000102030","omim":"300013","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant","X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"21700266[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-06-19","source":"21700266[PMID]_28967461[PMID]","terms":[{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002457","label":"Abnormal head movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030149","label":"Cardiogenic shock","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009931","label":"Enlarged naris","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010803","label":"Everted upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000341","label":"Narrow forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004415","label":"Pulmonary artery stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002362","label":"Shuffling gait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}