{"orpha":436141,"name":"HIDEA syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-436141/","orphanet_url":"https://www.orpha.net/en/disease/detail/436141","names":{"fr":{"name":"Syndrome HIDEA","synonyms":["Syndrome de déficience intellectuelle sévère-hypotonie-strabisme-traits grossiers du visage-planovalgus"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une déficience intellectuelle profonde, une hypotonie, des traits grossiers de visage, un strabisme et des troubles de la fixation, une hypermobilité des articulations interphalangiennes, des contractures des articulations du coude et des pieds plats. Des crises convulsives et des épisodes de comportement agressif pendant le sommeil ont également été rapportés."},"de":{"name":"HIDEA-Syndrom","synonyms":["Schwere Intelligenzminderung-Hypotonie-Strabismus-grobe Gesichtsszüge-Planovalgus-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit schwerer Intelligenzminderung, Hypotonie, groben Gesichtszügen, Strabismus und Sehstörungen, Hypermobilität der Interphalangealgelenke, Kontrakturen in den Ellenbogengelenken und Pes planovalgus. Es wurde auch über Krampfanfälle und aggressives Verhalten im Schlaf berichtet."},"es":{"name":"Síndrome HIDEA","synonyms":["Síndrome de discapacidad intelectual grave-hipotonía-estrabismo-cara tosca-pies plano-valgos"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de base genética y poco frecuente, caracterizado por grave discapacidad intelectual, hipotonía, rasgos faciales toscos, estrabismo y alteración de la fijación visual, hipermovilidad de las articulaciones interfalángicas, contracturas de las articulaciones del codo y pie planovalgo. También se ha descrito crisis epilépticas y episodios de agresividad durante el sueño."},"it":{"name":"Sindrome HIDEA","synonyms":["Sindrome disabilità cognitiva grave-ipotonia-strabismo-facies grossolana-piede piatto valgo","Sindrome disabilità intellettiva grave-ipotonia-strabismo-facies grossolana-piede piatto valgo"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva grave, ipotonia, aspetto grossolano del viso, strabismo, compromissione della fissazione visiva, ipermobilità delle articolazioni interfalangee, contratture delle articolazioni del gomito e piede piatto valgo. I pazienti possono presentare anche crisi epilettiche ed episodi di comportamento aggressivo durante il sonno."},"nl":{"name":"HIDEA-syndroom","synonyms":["Ernstige intellectuele achterstand - hypotonie - strabisme - grof gelaat - planovalgus-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt door zeer ernstige intellectuele achterstand, hypotonie, grove gelaatskenmerken, strabisme en verstoorde visuele fixatie, hypermobiele interfalangeale gewrichten, gewrichtscontracturen van ellebogen, en pes planovalgus (platvoet). Insulten en episodes van agressief gedrag tijdens de slaap werden ook reeds gerapporteerd."},"pt":{"name":"Síndrome HIDEA","synonyms":["Síndrome de perturbação do desenvolvimento intelectual grave-hipotonia-estrabismo-face grosseira-planovalgo"]},"pl":{"name":"Zespół ciężkiej niepełnosprawności intelektualnej, hipotonii, zeza, grubych rysów twarzy i stóp płasko-koślawych","synonyms":["Zespół HIDEA"]},"cs":{"name":"Syndrom zahrnující těžkou mentální retardaci, hypotonii, strabismus, hrubé faciální rysy a pes planovalgus","synonyms":["Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"]},"uk":{"name":"Синдром HIDEA","synonyms":["Важка розумова відсталість-гіпотонія-косоокість-грубе обличчя-плантаргічний синдром"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported."},"zh":{"name":"严重智力障碍-肌张力减退-斜视-粗糙面容-扁平卵巢综合征"},"tr":{"name":"Ağır zihinsel yetersizlik-hipotoni-şaşılık-kaba yüz-planovalgus sendromu"}},"xrefs":[{"source":"OMIM","code":"618493","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018572","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681179","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":656273,"name":"OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome","status":"inactive"}],"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]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"P4HTM","name":"prolyl 4-hydroxylase, transmembrane","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"35908151[PMID]","hgnc":"28858","ensembl":"ENSG00000178467","omim":"614584","loci":["3p21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"25078763[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25078763[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-09","source":"25078763[PMID]","terms":[{"hpo":"HP:0003028","label":"Abnormality of the ankles","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0006094","label":"Finger joint hypermobility","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null}]}}