{"orpha":643549,"name":"Hao-Fountain syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HAFOUS"],"definition":"A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of <i>USP7</i> gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, esotropia, strabismus, and nystagmus).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-643549/","orphanet_url":"https://www.orpha.net/en/disease/detail/643549","names":{"fr":{"name":"Syndrome Hao-Fountain","synonyms":["HAFOUS"],"definition":"Syndrome de déficience intellectuelle rare d'origine génétique, caractérisé par un retard global de développement, une déficience intellectuelle, un retard de langage sévère, des troubles du comportement (impulsivité, comportement compulsif, entêtement, comportement manipulateur, crises de colère et comportement agressif), un trouble du spectre de l'autisme et une légère dysmorphie faciale variable (yeux profondément situés dans les orbites et cloison nasale proéminente, se prolongeant sous les ailes du nez). Le syndrome est dû à une mutation ponctuelle du gène <i>USP7</i> ou à une microdélétion 16p13.2 où <i>USP7</i> est complètement ou partiellement supprimé. Les troubles du comportement sont plus prononcés en cas de microdélétion. Les patients peuvent également présenter une hypotonie, des problèmes d'alimentation, un retard d'acquisition de la marche avec une démarche instable, un hypogonadisme pour les hommes, des convulsions et des anomalies oculaires (myopie, ésotropie, strabisme et nystagmus)."},"de":{"name":"Hao-Fountain-Syndrom","synonyms":["HAFOUS"],"definition":"Ein seltene neurologische Entwicklungsstörung, die gekennzeichnet ist durch globale Entwicklungsverzögerung, Intelligenzminderung, schwere Sprachverzögerung, Verhaltensauffälligkeiten (einschließlich Impulsivität, Zwanghaftigkeit, Sturheit, manipulatives Verhalten, Wutanfälle und aggressives Verhalten), eine Autismus-Spektrum-Störung und eine leichte und variable Gesichtsdysmorphie (einschließlich tiefliegender Augen und einer hervorstehenden Nasenscheidewand, die sich bis unter die Alae nasi erstreckt). Ursächlich sind pathogene Varianten des <i>USP7</i>-Gens oder eine 16p13 .2 Mikrodeletion, die das <i>USP7</i>-Gen vollständig oder teilweise umfasst. Verhaltensanomalien sind bei Mikrodeletion stärker ausgeprägt. Die Patienten können auch Hypotonie, Fütterungsprobleme, verzögertes Gehen mit unsicherem Gang, Hypogonadismus bei Männern, Krampfanfälle und Augenanomalien (wie Myopie, Esotropie, Strabismus und Nystagmus) aufweisen."},"es":{"name":"Síndrome de Hao-Fountain","synonyms":["HAFOUS"],"definition":"Es un síndrome de discapacidad intelectual poco frecuente de base genética caracterizado por retraso global del desarrollo, discapacidad intelectual, retraso grave del habla, trastornos de la conducta (incluyendo impulsividad, compulsividad, terquedad, conductas manipulativas, rabietas y conductas agresivas), trastorno del espectro autista y facies dismórfica discreta y variable (incluyendo ojos hundidos y un tabique nasal prominente, que se extiende por debajo del ala nasi) debido a una mutación puntual del gen <i>USP7</i> o a una microdeleción 16p13.2 que implica una deleción total o parcial de <i>USP7</i>. Los trastornos de la conducta son más pronunciados en los casos de microdeleción. Los pacientes también pueden presentar hipotonía, problemas de alimentación, retraso del desarrollo de la deambulación con marcha inestable, hipogonadismo en los varones, crisis epilépticas y anomalías oculares (tales como miopía, esotropía, estrabismo y nistagmo)."},"it":{"name":"Sindrome di Hao-Fountain","synonyms":["HAFOUS"]},"nl":{"name":"Syndroom van Hao-Fountain","synonyms":["HAFOUS"],"definition":"Een zeldzaam genetisch syndroom met intellectuele achterstand, gekenmerkt door algehele ontwikkelingsachterstand, intellectuele achterstand, ernstige spraakachterstand, gedragsafwijkingen (waaronder impulsiviteit, dwangmatig gedrag, koppigheid, manipulatief gedrag, woedeaanvallen, en agressief gedrag), autismespectrumstoornis, en milde en variabele dysmorfe gelaatskenmerken (waaronder diepliggende ogen en prominent neustussenschot, dat uitsteekt onder de neusvleugels) door een puntmutatie in het gen <i>USP7</i> of een 16p13.2-microdeletie waarbij <i>USP7</i> deels of geheel is gedeleteerd. Gedragsafwijkingen zijn meer uitgesproken in geval van microdeletie. Patiënten kunnen ook lijden aan hypotonie, voedingsproblemen, loopachterstand en onvaste gang, hypogonadisme bij mannen, insulten, en ooganomalieën (zoals myopie, esotropie, strabisme, en nystagmus)."},"pt":{"name":"Síndrome Hao-Fountain","synonyms":["HAFOUS"],"definition":"Síndrome rara de perturbação do desenvolvimento intelectual genética caracterizada por atraso global do desenvolvimento, perturbação do desenvolvimento intelectual, atraso grave na fala, anomalias comportamentais (incluindo impulsividade, compulsividade, teimosia, comportamentos manipulativos, acessos de raiva e comportamentos agressivos), transtorno do espectro autista e fácies dismórfica leve e variável (incluindo olhos fundos e um septo nasal proeminente, estendendo-se abaixo da asa do nariz) devido à mutação pontual do gene USP7 ou microdeleção 16p13.2 onde USP7 é completamente ou parcialmente delecionado. Anomalias comportamentais são mais pronunciadas na microdeleção. Os doentes também podem ter hipotonia, problemas de alimentação, atraso na caminhada com marcha instável, hipogonadismo em indivíduos masculinos, convulsões e anomalias oculares (como miopia, esotropia, estrabismo e nistagmo)."},"pl":{"name":"Zespół Hao-Fountaina","synonyms":["HAFOUS"],"definition":"Rzadki, genetycznie uwarunkowany zespół z niepełnosprawnością intelektualną, który charakteryzuje się globalnym opóźnieniem rozwoju, niepełnosprawnością intelektualną, poważnym opóźnieniem mowy, nieprawidłowościami behawioralnymi (w tym impulsywnością, kompulsywnością, uporem, zachowaniami manipulacyjnymi i agresywnymi oraz napadami złości), zaburzeniami ze spektrum autyzmu oraz łagodnymi i zmiennymi dysmorficznymi cechami twarzy (głęboko osadzone oczy, widoczna przegroda nosowa sięgająca poniżej skrzydełek nosa), spowodowany punktową mutacją genu USP7 lub mikrodelecją 16p13.2, która obejmuje cały gen USP7 lub jego część. Nieprawidłowości behawioralne są silniej wyrażone u chorych z mikrodelecją. Obserwuje się także obniżone napięcie mięśniowe, problemy z karmieniem, opóźnienie i/lub niezgrabność chodu, hipogonadyzm u mężczyzn, drgawki i anomalie narządu wzroku (krótkowzroczność, zez, oczopląs)."},"cs":{"name":"Haoův-Fountainův syndrom","synonyms":["Hao-Fountainův syndrom"]},"uk":{"name":"Синдром Хао-Фонтана","synonyms":["HAFOUS"],"definition":"A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of <i>USP7</i> gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus)."}},"xrefs":[{"source":"OMIM","code":"616863","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014805","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5393908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":500055,"name":"Hao-Fountain syndrome due to 16p13.2 microdeletion","type":"Etiological subtype"},{"orpha":643538,"name":"Hao-Fountain syndrome due to USP7 mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"USP7","name":"ubiquitin specific peptidase 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30679821[PMID]","hgnc":"12630","ensembl":"ENSG00000187555","omim":"602519","loci":["16p13.2"],"via":{"orpha":643538,"name":"Hao-Fountain syndrome due to USP7 mutation"}},{"symbol":"USP7","name":"ubiquitin specific peptidase 7","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"26365382[PMID]","hgnc":"12630","ensembl":"ENSG00000187555","omim":"602519","loci":["16p13.2"],"via":{"orpha":500055,"name":"Hao-Fountain syndrome due to 16p13.2 microdeletion"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":18.0,"area":"Worldwide","status":"Validated","source":"26365382[PMID]_30679821[PMID]_35627274[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"26365382[PMID]_30679821[PMID]_35627274[PMID]_ORPHANET"}],"phenotypes":null}