{"orpha":502430,"name":"Weiss-Kruszka Syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Metopic ridging-ptosis-facial dysmorphism syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-502430/","orphanet_url":"https://www.orpha.net/en/disease/detail/502430","names":{"fr":{"name":"Syndrome de Weiss-Kruszka","synonyms":["Syndrome d'épaississement de la suture métopique-ptosis-dysmorphie faciale"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare avec une déficience intellectuelle variable, caractérisé par une forme anormale de la tête/de la crête métopique et une dysmorphie faciale (pouvant inclure des sourcils arqués, un ptosis, des fentes palpébrales inclinées vers le bas, des plis épicanthaux et un nez court et retroussé). De nombreux patients présentent un retard de développement global variable et/ou un trouble du spectre autistique. D'autres anomalies signalées sont des anomalies cardiaques, squelettiques ou urogénitales. L'imagerie cérébrale peut montrer une agénésie du corps calleux."},"de":{"name":"Weiss-Kruszka-Syndrom","synonyms":["Metopicaleiste-Ptosis-Gesichtsdysmorphie-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Dysmorphie-Syndrom mit variabler Intelligenzminderung, das durch eine abnorme Kopfform/metopische Leiste und Gesichtsdysmorphien gekennzeichnet ist (u. a. gewölbte Augenbrauen, Ptosis, schräg abwärts verlaufende Lidspalten, Epikanthusfalten und kurze, nach oben gerichtete Nase). Viele Patienten weisen eine variable globale Entwicklungsverzögerung und/oder eine Autismus-Spektrum-Störung auf. Zusätzlich werden kardiale, skelettale oder urogenitale Anomalien berichtet. Die zerebrale Bildgebung kann eine Agenesie des Corpus callosum zeigen."},"es":{"name":"Síndrome de Weiss-Kruszka","synonyms":["Síndrome de cresta metópica-ptosis-dismorfia facial"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas genético y poco frecuente con discapacidad intelectual variable que se caracteriza por una forma anómala de la cabeza/surcos metópicos y dismorfia facial (que puede incluir cejas arqueadas, ptosis, fisuras palpebrales descendentes, pliegues epicánticos y nariz corta con la punta elevada). Muchos pacientes presentan retraso variable del desarrollo global y/o trastornos del espectro autista. Otras características adicionales descritas son anomalías cardíacas, esqueléticas o urogenitales. La neuroimagen puede mostrar agenesia del cuerpo calloso."},"it":{"name":"Sindrome di Weiss-Kruszka","synonyms":["Sindrome ispessimento della sutura metopica-ptosi-dismorfismi facciali"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli associata a disabilità intellettiva di gravità variabile, caratterizzata da anomalie della forma della testa/prominenza della sutura metopica e dismorfismi facciali (sopracciglia arcuate, ptosi, rime palpebrali oblique verso il basso, epicanto e naso corto con punta rivolta verso l'alto). Molti pazienti presentano un ritardo dello sviluppo globale di grado variabile e/o un disturbo dello spettro autistico. Altri segni clinici sono le cardiopatie, le anomalie scheletriche e urogenitali. Le neuroimmagini mostrano l'agenesia del corpo calloso."},"nl":{"name":"Syndroom van Weiss-Kruszka","synonyms":["Metopica-richel - ptosis - faciale dysmorfie-syndroom","Richel van voorhoofdsnaad - ptosis - faciale dysmorfie-syndroom"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom met variabele intellectuele achterstand, gekarakteriseerd door abnormale vorm van hoofd/prominente metopische rand en faciale dysmorfie (met onder meer gewelfde wenkbrauwen, ptose, schuin naar beneden hellende ooglidspleten, epicanthusplooi, en korte wipneus). Vele patiënten vertonen variabele algehele ontwikkelingsachterstand en/of autismespectrumstoornis. Bijkomende kenmerken die werden gerapporteerd, zijn anomalieën van hart, skelet of urogenitaal stelsel. Beeldvorming van hersenen toont mogelijk agenesie van corpus callosum."},"pt":{"name":"Sindrome Weiss-Kruszka","synonyms":["Síndrome de cavalgamento metópico-ptose-dismorfia facial"]},"pl":{"name":"Zespół wydatnego grzebienia kości czołowej, opadania powiek i dysmorfii twarzy","synonyms":["Metopic ridging-ptosis-facial dysmorphism syndrome"]},"cs":{"name":"Syndrom zahrnující metopický hřeben, ptózu a faciální dysmorfismus","synonyms":["Metopic ridging-ptosis-facial dysmorphism syndrome"]},"uk":{"name":"Синдром Вайса-Крушки","synonyms":["Синдром метопічного гребеня-птозу-дизморфізму обличчя"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum."},"zh":{"name":"额部隆起-上睑下垂-面部畸形综合征","definition":"一种罕见的遗传性多发性先天性异常/畸形综合征，伴有不同的智力障碍，其特征是头部形态异常/额部脊皱和面部畸形（可能包括娥眉、上睑下垂、下睑裂、内眦赘皮和短鼻上翘）。许多患者表现出多种的全面发育迟缓和/或自闭症谱系障碍。其他报道的特征是心脏、骨骼或泌尿生殖系统异常。脑影像学检查显示胼胝体缺失。"},"tr":{"name":"Metopik sırt-pitoz-fasiyal dismorfizm sendromu"}},"xrefs":[{"source":"OMIM","code":"618619","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044715","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"32836","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"44715","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5568107","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]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"ZNF462","name":"zinc finger protein 462","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28513610[PMID]","hgnc":"21684","ensembl":"ENSG00000148143","omim":"617371","loci":["9q31.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28513610[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28513610[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-19","source":"31670927[PMID]_31361404[PMID]_28513610[PMID]_36568367[PMID]","terms":[{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000289","label":"Broad philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005274","label":"Prominent nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040064","label":"Abnormality of limbs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000954","label":"Single transverse palmar crease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033454","label":"Tube feeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Very rare (<4-1%)","criteria":null}]}}