{"orpha":2184,"name":"Hydrocephaly-low insertion umbilicus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Palmer-Pagon syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2184/","orphanet_url":"https://www.orpha.net/en/disease/detail/2184","names":{"fr":{"name":"Syndrome d'hydrocéphalie-implantation basse de l'ombilic","synonyms":["Syndrome de Palmer-Pagon"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une hydrocéphalie congénitale affectant les ventricules latéraux, une implantation basse de l'ombilic, une hernie inguinale bilatérale et une légère dysmorphie faciale (plis épicanthaux, pont nasal large et plat, nez petit et bulbeux). Parmi les autres manifestations rapportées figurent : cryptorchidie unilatérale, reflux vésico-urétéral et tétralogie de Fallot. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Hydrozephalus-Nabelschnuranomalien-Syndrom","synonyms":["Palmer-Pagon-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch einen kongenitalen Hydrozephalus mit Beteiligung der Seitenventrikel, einen tiefliegenden Nabel, einen beidseitigen Leistenbruch und leichte Gesichtsdysmorphien (wie Epikanthusfalten, einen breiten, flachen Nasenrücken und eine kleine Knollennase) gekennzeichnet ist. Zu den weiteren berichteten Manifestationen gehören einseitiger Kryptorchismus, vesikoureteraler Reflux und Fallot-Tetralogie. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hidrocefalia-ombligo de inserción baja","synonyms":["Síndrome de Palmer-Pagon"],"definition":"Es un síndrome dismórfico/ con anomalías congénitas múltiples poco frecuente caracterizado por hidrocefalia congénita con afectación de los ventrículos laterales, ombligo de implantación baja, hernia inguinal bilateral y dismorfia facial leve (incluyendo pliegues epicánticos, puente nasal ancho y plano, y nariz pequeña y bulbosa). Otras manifestaciones descritas son criptorquidia unilateral, reflujo vesicoureteral y tetralogía de Fallot. No ha habido más descripciones en la literatura desde 1993."},"it":{"name":"Sindrome idrocefalo-ombelico a bassa inserzione","synonyms":["Sindrome di Palmer-Pagon"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da idrocefalo congenito che interessa i ventricoli laterali, ombelico a bassa inserzione, ernia inguinale bilaterale e dismorfismi facciali sfumati (epicanto, sella nasale ampia e piatta, e naso piccolo e globoso). I pazienti possono presentare anche criptorchidismo monolaterale, reflusso vescico-ureterale e tetralogia di Fallot. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Hydrocefalie - lage umbilicale insertie-syndroom","synonyms":["Syndroom van Palmer-Pagon"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door congenitale hydrocefalie met betrokkenheid van laterale ventrikels, laag ingeplante navel, bilaterale liesbreuk, en milde faciale dysmorfie (zoals epicanthusplooien, brede en platte neusbrug, en kleine knolvormige neus). Bijkomend gerapporteerde manifestaties zijn onder meer unilateraal cryptorchisme, vesico-ureterale reflux, en tetralogie van Fallot. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de hidrocefalia-umbigo de inserção baixa","synonyms":["Síndrome Palmer-Pagon"]},"pl":{"name":"Wodogłowie - nisko osadzony pępek","synonyms":["Zespół Palmera i Pagona"]},"cs":{"name":"Syndrom zahrnující hydrocefalus a nízko položený pupek","synonyms":["Palmerův-Pagonův syndrom","Palmer-Pagonův syndrom"]},"uk":{"name":"Синдром гідроцефалії-низького вставлення пуповини","synonyms":["Синдром Палмера-Пагона"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993."},"zh":{"name":"脑积水-低插入脐综合征","synonyms":["Palmer-Pagon 综合征"]},"tr":{"name":"Hidrosefali-düşük insersiyonlu umbilikus sendromu","synonyms":["Palmer-Pagon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0043164","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538107","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931734","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4199","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8305966[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8305966[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001334","label":"Communicating hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004299","label":"Hernia of the abdominal wall","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010772","label":"Anomalous pulmonary venous return","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Frequent (79-30%)","criteria":null}]}}