{"orpha":73223,"name":"Global developmental delay-osteopenia-ectodermal defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73223/","orphanet_url":"https://www.orpha.net/en/disease/detail/73223","names":{"fr":{"name":"Syndrome de retard de développement-ostéopénie-anomalies ectodermiques","definition":"Maladie génétique rare caractérisée par un retard de développement global, des troubles du langage et cognitifs, des troubles du comportement, de l'ostéopénie, une laxité articulaire. On observe également des altérations de la peau, telles qu'une hyperkératose et des anomalies des glandes sudoripares et des mélanocytes avec des zones hypopigmentées, et une structure capillaire anormale. Une légère dysmorphie faciale (front proéminent, sourcils épais, plis épicantaux, large pont nasal, long philtrum et micrognathie), anomalies dentaires, des anomalies squelettiques et cardiaques ont également été décrits."},"de":{"name":"Allgemeine Entwicklungsverzögerung-Osteopenie-ektodermaler Defekt-Syndrom","definition":"Eine seltene genetische Erkrankung, die durch eine globale Entwicklungsverzögerung mit Sprach- und Wahrnehmungsstörungen, Verhaltensauffälligkeiten, Osteopenie, Gelenklaxität, Hautdefekten mit Hyperkeratose, Schweißdrüsen- und Melanozytenanomalien mit hypopigmentierten Arealen und abnormer Haarstruktur gekennzeichnet ist. Leichte Gesichtsdysmorphien (prominente Stirn, dicke Augenbrauen, Epikanthusfalten, breiter Nasenrücken, langes Philtrum und Mikrognathie), Zahnanomalien sowie Skelett- und Herzanomalien wurden ebenfalls beschrieben."},"es":{"name":"Síndrome de retraso global del desarrollo-osteopenia-defecto ectodérmico","definition":"Es una enfermedad genética poco frecuente caracterizada por un retraso global del desarrollo con dificultades cognitivas y lingüísticas, trastornos de la conducta, osteopenia, laxitud articular, defectos de la piel consistentes en hiperqueratosis y anomalías de las glándulas sudoríparas y melanocitos con áreas hipopigmentadas y estructura anómala del cabello. También se ha descrito dismorfia facial leve (frente prominente, cejas espesas, pliegues epicánticos, puente nasal ancho, surco nasolabial largo y micrognatia), anomalías dentales, esqueléticas y cardíacas."},"it":{"name":"Sindrome ritardo dello sviluppo globale-osteopenia-difetti ectodermici","definition":"Si tratta di una malattia genetica rara, caratterizzata da ritardo dello sviluppo globale con deficit cognitivo e del linguaggio, problemi comportamentali, osteopenia, lassità articolare, difetti cutanei (ipercheratosi e anomalie delle ghiandole sudoripare e dei melanociti con aree ipopigmentate) e anomalie della struttura dei capelli. I pazienti possono presentare anche dismorfismi facciali sfumati (fronte prominente, sopracciglia folte, epicanto, sella nasale larga, filtro lungo e micrognazia), anomalie dentali e scheletriche, e cardiopatie."},"nl":{"name":"Algehele ontwikkelingsachterstand - osteopenie - ectodermaal defect-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door algehele ontwikkelingsachterstand deficiënties van taal en cognitie, gedragsproblemen, osteopenie, gewrichtslaxiteit, defecten van huid bestaande uit hyperkeratose en anomalieën van zweetklieren en melanocyten met hypopigmentatie, en abnormale structuur van haar. Milde faciale dysmorfie (prominent voorhoofd, dikke wenkbrauwen, epicanthusplooien, brede neusbrug, lang filtrum, en micrognathie), tandafwijkingen, en skelet- en hartanomalieën werden ook reeds beschreven."},"pt":{"name":"Perturbação do desenvolvimento global-osteopenia-anomalias ectodérmicas"},"pl":{"name":"Opóźnienie rozwoju - osteopenia - defekt ektodermalny"},"cs":{"name":"Syndrom zahrnující opožděný vývoj, osteopenii a ektodermální defekt"},"uk":{"name":"Синдром глобальної затримки розвитку-остеопенії-ектодермального дефекту","definition":"A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described."},"zh":{"name":"全身发育迟缓-骨质疏松-外胚层缺陷综合征"},"tr":{"name":"Yaygın gelişme geriliği-osteopeni-ektodermal defekt sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019129","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303570","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":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"16368207[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16368207[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-03-27","source":"16368207[PMID]","terms":[{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011125","label":"Abnormality of dermal melanosomes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010719","label":"Abnormality of hair texture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007483","label":"Depigmentation/hyperpigmentation of skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011368","label":"Epidermal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003127","label":"Hypocalciuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007387","label":"Hypoplastic sweat glands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100710","label":"Impulsivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025080","label":"Orthokeratotic hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040022","label":"Clinodactyly of the 2nd finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040025","label":"Clinodactyly of the 4th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011065","label":"Conical incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012520","label":"Dilation of Virchow-Robin spaces","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012365","label":"Hypophosphaturia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011074","label":"Localized hypoplasia of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001593","label":"Maxillary lateral incisor microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003691","label":"Scapular winging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}