{"orpha":3035,"name":"Growth delay-hydrocephaly-lung hypoplasia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Game-Friedman-Paradice syndrome"],"definition":"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3035/","orphanet_url":"https://www.orpha.net/en/disease/detail/3035","names":{"fr":{"name":"Syndrome de retard de croissance-hydrocéphalie-hypoplasie pulmonaire","synonyms":["Syndrome de Game-Friedman-Paradice"],"definition":"Maladie rare du développement décrite à ce jour chez 4 individus d'une fratrie caractérisée par un retard de croissance foetale, une hydrocéphalie avec sténose de l'aqueduc de Sylvius, une hypoplasie pulmonaire et diverses autres malformations telles qu'une une petite mâchoire, une malrotation intestinale, une omphalocèle, des membres inférieurs courts, des tibias arqués et des malformations des pieds."},"de":{"name":"Wachstumsretardierung-Hydrozephalus-Lungenhypoplasie-Syndrom","synonyms":["Game-Friedman-Paradice-Syndrom"],"definition":"Die Wachstumsretardierung mit Hydrozephalus und Lungenhypoplasie, auch Game-Friedman-Paradice-Syndrom genannt, ist eine seltene Entwicklungsstörung, die bisher bei 4 Geschwistern beschrieben wurde. Merkmale sind verlangsamtes fetales Wachstum, Hydrozephalus mit offenem Ductus Sylvii, unterentwickelte Lungen und andere Anomalien, wie kleiner Kiefer, Malrotation des Darmes, Omphalozele, kurze untere Gliedmaßen, gebogene Tibia und Fußdeformitäten."},"es":{"name":"Síndrome de retraso de crecimiento-hidrocefalia-hipoplasia pulmonar","synonyms":["Síndrome de Game-Friedman-Paradice"],"definition":"El retraso de crecimiento - hidrocefalia - hipoplasia pulmonar, también llamado síndrome de Game-Friedman-Paradice, es un trastorno del desarrollo poco frecuente, descrito hasta la fecha en 4 hermanos, y que se caracteriza por retraso del crecimiento fetal, hidrocefalia con acueducto de Silvio patente, pulmones subdesarrollados, y otras anomalías como mandíbula pequeña, malrotación intestinal, onfalocele, extremidades inferiores cortas, tibias arqueadas y deformidades en los pies."},"it":{"name":"Ritardo della crescita - idrocefalo - ipoplasia dei polmoni","synonyms":["Sindrome di Game-Friedman-Paradice"],"definition":"Il ritardo della crescita - idrocefalo - ipoplasia polmonare, noto anche come sindrome di Game-Friedman-Paradice, è un raro disturbo dello sviluppo descritto, finora, in 4 fratelli e caratterizzato da ritardo della crescita fetale, idrocefalo con acquedotto di Silvio pervio, scarso sviluppo dei polmoni e diverse altre anomalie, come l'ipoplasia mascellare, la malrotazione intestinale, l'onfalocele, gli arti inferiori corti, l'incurvamento delle tibie e le deformità dei piedi."},"nl":{"name":"Groeiachterstand - hydrocefalie - longhypoplasie-syndroom","synonyms":["Syndroom van Game-Friedman-Paradice"],"definition":"Een zeldzame ontwikkelingsstoornis, tot op heden beschreven bij vier broers/zussen, en gekenmerkt door foetale groeiachterstand, hydrocefalie, persisterende aqueduct van Sylvius, onderontwikkelde longen, en verschillende andere anomalieën zoals kleine kaak, intestinale malrotatie, omfalocele, korte onderste ledematen, kromstand van tibia, en voetmisvormingen."},"pt":{"name":"Síndrome de atraso do crescimento-hidrocefalia-hipoplasia pulmonar","synonyms":["Síndrome Game-Friedman-Paradice"]},"pl":{"name":"Opóźnienie wzrostu - wodogłowie - hipoplazja płuc","synonyms":["Zespół Game'a, Friedmana i Paradicego"]},"cs":{"name":"Syndrom zahrnující opožděný růst, hydrocefalus a hypoplázii plic","synonyms":["Gameův-Friedmanův-Paradiceho syndrom","Game-Friedman-Paradiceho syndrom"]},"uk":{"name":"Синдром затримки росту-гідроцефалії-гіпоплазії легень","synonyms":["Синдром Гейма-Фрідмана-Парадіса"],"definition":"Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities."},"zh":{"name":"生长延迟-脑积水-肺发育不全综合征","synonyms":["Game-Friedman-Paradice综合征"]},"tr":{"name":"Büyüme geriliği-hidrosefali-akciğer hipoplazisi sendromu","synonyms":["Game-Friedman-Paradice sendromu"]}},"xrefs":[{"source":"OMIM","code":"236640","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0009362","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535406","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856052","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2427","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183622,"name":"Genetic respiratory malformation","classifications":[156]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]},{"orpha":108995,"name":"Syndromic respiratory or mediastinal malformation","classifications":[147,186]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"2764038[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2764038[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009816","label":"Lower limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}