{"orpha":85317,"name":"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85317/","orphanet_url":"https://www.orpha.net/en/disease/detail/85317","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-hypogammaglobulinémie-détérioration neurologique progressive","definition":"Anomalies congénitales multiples / syndrome dysmorphique rare d'origine génétique, caractérisé par une déficience intellectuelle modérée, une dysmorphie faciale (glabelle proéminente, synophridie et prognathisme), un hirsutisme généralisé, des plis palmaires uniques bilatéraux et des convulsions. Parmi les autres manifestations rapportées figurent une détérioration neurologique progressive lente avec faiblesse musculaire et trouble de la marche et de l'équilibre, ainsi qu'une hypogammaglobulinémie avec absence spécifique d'IgA sériques et/ou sécrétoires, entre autres. L'imagerie cérébrale met en évidence une atrophie cérébelleuse légère et un corps calleux mince."},"de":{"name":"X-chromosomale Intelligenzminderung mit Hypogammaglobulinämie und progressiven neurologischen Ausfällen","definition":"Ein genetisch bedingtes Dysmorphie-Syndrom, das durch eine mäßige Intelligenzminderung, Gesichtsdysmorphien (z. B. prominente Glabella, Synophrie und Progenie), generalisierten Hirsutismus, beidseitige einzelne Palmarfalten und Krampfanfälle gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören eine langsam fortschreitende neurologische Verschlechterung mit Muskelschwäche und Gang- und Gleichgewichtsstörungen sowie eine Hypogammaglobulinämie mit spezifischem Fehlen von Plasma- und/oder sekretorischem IgA, um nur einige zu nennen. Die Bildgebung des Gehirns kann eine leichte Atrophie des Kleinhirns und ein dünnes Corpus Callosum zeigen."},"es":{"name":"Síndrome de discapacidad intelectual-hipogammaglobulinemia-deterioro neurológico progresivo ligado al cromosoma X","definition":"Es un síndrome dismórfico/de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por discapacidad intelectual moderada, rasgos faciales dismórficos (tales como glabela prominente, sinofridia y prognatismo), hirsutismo generalizado, pliegue palmar único bilateral y crisis epilépticas. Otras manifestaciones adicionales descritas incluyen deterioro neurológico lentamente progresivo con debilidad muscular y alteraciones de la marcha y del equilibrio, así como hipogammaglobulinemia con una ausencia específica de IgA plasmática y/o secretora, entre otras. La neuroimagen puede mostrar atrofia cerebelosa leve y adelgazamiento del cuerpo calloso."},"it":{"name":"Sindrome disabilità intellettiva legata all'X-ipogammaglobulinemia-deterioramento neurologico progressivo","definition":"Si tratta di una malattia genetica rara con anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva moderata, dismorfismi facciali (glabella prominente, sinofria e prognatismo), irsutismo generalizzato, piega palmare unica bilaterale e crisi epilettiche. I pazienti possono presentare anche deterioramento neurologico a progressione lenta associato a debolezza muscolare e anomalie dell'andatura e dell'equilibrio, e ipogammaglobulinemia con assenza di IgA plasmatiche e/o secretorie. Le neuroimmagini evidenziano lieve atrofia cerebellare e assottigliamento del corpo calloso."},"nl":{"name":"X-gebonden intellectuele achterstand - hypogammaglobulinemie - progressieve neurologische achteruitgang-syndroom","definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door matige intellectuele achterstand, dysmorfe gelaatskenmerken (zoals prominente glabella, synophrys, en prognathie), gegeneraliseerd hirsutisme, bilaterale doorlopende dwarse handlijn van handpalm, en insulten. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer traag progressieve neurologische achteruitgang met spierzwakte en gang- en evenwichtsstoornissen, alsook hypogammaglobulinemie met specifieke afwezigheid van IgA in plasma en/of secreet. Beeldvorming van hersenen toont mogelijk milde cerebellaire atrofie en dun corpus callosum."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-hipogamaglobulinemia-deterioração neurológica progressiva ligada ao X"},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - hipogammaglobulinemia - postępujące pogorszenie stanu neurologicznego"},"cs":{"name":"X-vázaný syndrom zahrnující mentální retardaci, hypogamaglobulinémii a progresivní neurologickou deterioraci"},"uk":{"name":"Синдром Х-зчепленої розумової відсталості-гіпогаммаглобулінемії-прогресуючого неврологічного порушення","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, dysmorphic facial features (such as prominent glabella, synophrys, and prognathism), generalized hirsutism, bilateral single palmar creases, and seizures. Additional reported manifestations include slowly progressive neurological deterioration with muscular weakness and impaired gait and balance, as well as hypogammaglobulinemia with specific absence of plasma and/or secretory IgA, among others. Brain imaging may show mild cerebellar atrophy and thin corpus callosum."},"zh":{"name":"X连锁智力障碍-低丙种球蛋白血症-进展性神经功能恶化综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-hipogamaglobulinemi-ilerleyici nörolojik bozulma sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019416","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304919","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":["X-linked recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"10398239[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10398239[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10398239[PMID]","terms":[{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000998","label":"Hypertrichosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000336","label":"Prominent supraorbital ridges","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null}]}}