{"orpha":99807,"name":"PEHO-like syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99807/","orphanet_url":"https://www.orpha.net/en/disease/detail/99807","names":{"fr":{"name":"Syndrome PEHO-like","definition":"Une maladie génétique neurologique rare caractérisée par une encéphalopathie progressive, des convulsions précoces avec un schéma hypsarythmique, un oedème facial et des membres, une hypotonie sévère, un arrêt précoce du développement psychomoteur et une dysmorphie craniofaciale (microcéphalie évolutive, front étroit, nez court, auricules proéminents, bouche béante, micrognathie), en l'absence de signes neuro-ophtalmiques ou neuroradiologiques. Une réponse visuelle limitée est aussi associée, ainsi qu'un retard de croissance et des doigts fuselés."},"de":{"name":"PEHO-ähnliches Syndrom"},"es":{"name":"Síndrome tipo PEHO","synonyms":["Síndrome PEHO-like"],"definition":"Es una enfermedad neurológica genética poco frecuente, caracterizada por una encefalopatía progresiva, crisis de inicio temprano con un patrón hipsarrítmico, edema facial y de las extremidades, hipotonía grave, detención temprana del desarrollo psicomotor y dismorfia craneofacial (microcefalia evolutiva, frente estrecha, nariz corta, aurículas prominentes, boca abierta, micrognatia), en ausencia de alteraciones neurooftalmológicas o neurorradiológicas. También puede asociar una capacidad de respuesta visual pobre, retraso en el crecimiento y dedos ahusados."},"it":{"name":"Sindrome PEHO-simile","definition":"La sindrome PEHO-simile è una malattia neurologica rara, di origine genetica, caratterizzata da encefalopatia progressiva, crisi epilettiche ad esordio precoce con ipsaritmia, edema del volto e degli arti, ipotonia grave, arresto precoce dello sviluppo psicomotorio e dismorfismi craniofacciali (microcefalia progressiva, fronte stretta, naso corto, padiglioni auricolari prominenti, bocca aperta, micrognazia), in assenza di anomalie neuro-oftalmiche o radio-neurologiche. I pazienti presentano inoltre una scarsa risposta visiva, ritardo della crescita e dita affusolate."},"nl":{"name":"PEHO-achtig syndroom","definition":"PEHO-achtig syndroom is een zeldzame, genetische neurologische die gekarakteriseerd wordt door progressieve encefalopathie, vroeg aanvangende insulten met een hypsaritmisch patroon, oedeem van het gelaat en de ledematen, ernstige hypotonie, vroege stilstand van de psychomotorische ontwikkeling, en craniofaciale dysmorfie (evoluerende microcefalie, smal voorhoofd, korte neus, opvallende oorschelpen, open mond, micrognathie), in afwezigheid van neuro-oftalmische of neuroradiologische bevindingen. Pover visueel reactievermogen, groeifalen en spitse vingers zijn ook geassocieerd."},"pt":{"name":"Síndrome PEHO-like"},"pl":{"name":"Zespół podobny do PEHO","definition":"*Zespół podobny do PEHO jest rzadką, genetycznie uwarunkowaną chorobą neurologiczną, która charakteryzuje się postępującą encefalopatią, napadami padaczkowymi o wczesnym początku z hipsarytmią w zapisie EEG, obrzękiem twarzy i kończyn, ciężką hipotonią, wczesnym zatrzymaniem rozwoju psychoruchowego i dysmorfią twarzoczaszki (ewoluujące małogłowie, wąskie czoło, krótki nos, wydatne małżowiny uszne, otwarte usta, mikrognacja), przy braku objawów nerwowo-ocznych oraz nieprawidłowości w badaniach neuroobrazowych. Towarzyszy także słaba odpowiedź wzrokowa, zaburzenia wzrastania oraz i zwężające się palce."},"cs":{"name":"PEHO-like syndrom"},"uk":{"name":"PEHO-подібний синдром","definition":"PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated."},"zh":{"name":"类PEHO综合征","definition":"PEHO-样综合征是一种罕见的遗传性神经系统疾病，其特征是进行性脑病、早发性癫痫伴节律紊乱、面部和肢体水肿、严重肌张力减退、精神运动发育早期停止和颅面畸形(进行性小头畸形、窄额头、短鼻、耳廓突出、张口、小颌畸形)，没有神经眼科或神经放射学发现。视觉反应差、生长障碍和手指逐渐变细也与此相关。"},"tr":{"name":"PEHO benzeri sendrom"}},"xrefs":[{"source":"OMIM","code":"617507","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0020495","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CCDC88A","name":"coiled-coil and HOOK domain protein 88A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26917597[PMID]","hgnc":"25523","ensembl":"ENSG00000115355","omim":"609736","loci":["2p16.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"8723564[PMID]_12868478[PMID]_12949965[PMID]_15968934[PMID]_22408680[PMID]_12818526[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15968934[PMID]_22408680[PMID]"}],"phenotypes":null}