{"orpha":457284,"name":"Houge-Janssens syndrome type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HJS2","PPP2R1A-related neurodevelopmental disorder","PPP2R1A-related Houge-Janssens syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-457284/","orphanet_url":"https://www.orpha.net/en/disease/detail/457284","names":{"fr":{"name":"Syndrome de Houge-Janssens type 2","synonyms":["Trouble du neurodéveloppement associé à PPP2R1A","Syndrome de Houge-Janssens associé à PPP2R1A"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par des degrés variables de retard de développement et de déficience intellectuelle, pauvreté, voire absence totale de langage, une hypotonie, une hypoplasie ou agénésie du corps calleux, et une dysmorphie faciale (visage allongé, bosses frontales, hypertélorisme, fentes palpébrales inclinées vers le bas, et lèvre supérieure en forme de tente). Parmi les autres caractéristiques rapportées figurent la microcéphalie, les crises d'épilepsie, l'ataxie de la démarche, la scoliose et la syndactylie des doigts, entre autres."},"de":{"name":"Houge-Janssens-Syndrom Typ 2","synonyms":["Neurologische Entwicklungsstörung, PPP2R1A-assoziierte","HJS2","Houge-Janssens-Syndrom Typ 2"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit multiplen Anomalien, das durch unterschiedlich starke Entwicklungsverzögerungen und Intelligenzminderungen mit eingeschränkter oder fehlender Sprachfähigkeit, Hypotonie, hypoplastischem oder fehlendem Corpus callosum und Gesichtsdysmorphien (z. B. langes Gesicht, Balkonstirn, Hypertelorismus, schräg abwärts verlaufende Lidspalten und verzogene Oberlippe) gekennzeichnet ist. Darüber hinaus werden u. a. Mikrozephalie, Krampfanfälle, Gangataxie, Skoliose und Syndaktylie der Finger berichtet."},"es":{"name":"Síndrome de Houge-Janssens tipo 2","synonyms":["SHJ2","Síndrome de Houge-Janssens asociado al gen PPP2R1A","Trastorno del neurodesarrollo asociado al gen PPP2R1A"],"definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas, de base genética, y poco frecuente caracterizado por un grado variable de retraso psicomotor y discapacidad intelectual junto con un desarrollo deficiente o ausencia del habla, hipotonía, cuerpo calloso hipoplásico o ausente y dismorfia facial (como cara alargada, frente prominente, hipertelorismo, fisuras palpebrales inclinadas hacia abajo y labio superior en tienda de campaña). Otras características adicionales descritas incluyen microcefalia, crisis epilépticas, ataxia de la marcha, escoliosis y sindactilia de los dedos de las manos, entre otras."},"it":{"name":"Sindrome di Houge-Janssens tipo 2","synonyms":["Sindrome di Houge-Janssens correlata a PPP2R1A","Sindrome Houge-Janssens tipo 2","HJS2","Malattia del neurosviluppo correlata a PPP2R1A"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo e disabilità intellettiva di gravità variabile con scarso sviluppo o assenza del linguaggio, ipotonia, ipoplasia o agenesia del corpo calloso e dismorfismi facciali (viso allungato, fronte bombata, ipertelorismo, rime palpebrali oblique verso il basso, e labbro superiore ''a tenda''). I pazienti possono presentare anche microcefalia, crisi epilettiche, andatura atassica, scoliosi e sindattilia delle mani."},"nl":{"name":"Syndroom van Houge-Janssens type 2","synonyms":["PPP2R1A-gerelateerde neurologische ontwikkelingsstoornis","PPP2R1A-gerelateerd syndroom van Houge-Janssen","HJS2"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door variabele gradaties van ontwikkelingsachterstand en intellectuele achterstand met ondermaatse of afwezige spraak, hypotonie, hypoplastisch of afwezig corpus callosum, en faciale dysmorfie (zoals lang aangezicht, boller voorhoofd, hypertelorisme, schuin naar beneden hellende ooglidspleten, en tentvormige bovenlip). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer microcefalie, insulten, gangataxie, scoliose, en syndactylie van vingers."},"pt":{"name":"Síndrome de microcefalia-hipoplasia do corpo caloso-perturbação do desenvolvimento intelectual-dismorfia facial"},"pl":{"name":"Zespół małogłowia, hipoplazji ciała modzelowatego, niepełnosprawności intelektualnej i dysmorfii twarzy","synonyms":["Zespół małogłowia – hipoplazji spoidła wielkiego – niepełnosprawności intelektualnej – dysmorfii twarzy"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, hypoplázii corpus callosum, mentální retardaci a faciální dysmorfismus","synonyms":["HJS2","PPP2R1A-related neurodevelopmental disorder","PPP2R1A-related Houge-Janssens syndrome"]},"uk":{"name":"Синдром мікроцефалії-гіпоплазії мозолистого тіла-інтелектуальної недостатності-дисморфізму обличчя","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable degrees of developmental delay and intellectual disability with poor or absent speech, hypotonia, hypoplastic or absent corpus callosum, and facial dysmorphism (such as long face, frontal bossing, hypertelorism, downslanting palpebral fissures, and tented upper lip). Additional reported features include microcephaly, seizures, gait ataxia, scoliosis, and syndactyly of fingers, among others."},"zh":{"name":"小头畸形-胼胝体发育不良-智力发育不良-面部畸形综合征"},"tr":{"name":"Mikrosefali-korpus kallozum hipoplazisi-zihinsel yetersizlik-fasiyal dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"616362","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014605","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225352","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":726644,"name":"Houge-Janssens syndrome","classifications":[147,156,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"PPP2R1A","name":"protein phosphatase 2 scaffold subunit Aalpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26168268[PMID]","hgnc":"9302","ensembl":"ENSG00000105568","omim":"605983","loci":["19q13.41"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"25533962[PMID]_26168268[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25533962[PMID]_26168268[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-12","source":"31687265[PMID]_25533962[PMID]_26168268[PMID]","terms":[{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010721","label":"Abnormal hair whorl","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000151","label":"Aplasia of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003250","label":"Aplasia of the vagina","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012304","label":"Hypoplastic aortic arch","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006955","label":"Olivopontocerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100259","label":"Postaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025607","label":"Upper eyelid entropion","frequency":"Occasional (29-5%)","criteria":null}]}}