{"orpha":2570,"name":"Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Morse-Rawnsley-Sargent syndrome"],"definition":"A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2570/","orphanet_url":"https://www.orpha.net/en/disease/detail/2570","names":{"fr":{"name":"Syndrome de retard de croissance intra-utérin-malformation corticale-contractures congénitales","synonyms":["Syndrome Morse-Rawnsley-Sargent"],"definition":"Une malformation extrêmement rare et fatale du système nerveux central survenant au cours de l'embryogenèse, de présentation prénatale. Les caractéristiques majeures sont une holoprosencéphalie et une hypokinésie foetale. Les autres manifestations incluent une microcéphalie, de multiples contractures et un retard de croissance intra-utérin. Il n'y a pas eu de description ultérieure dans la littérature depuis 1988."},"de":{"name":"Letale intrauterine Wachstumsverzögerung-kortikale Fehlbildungen-kongenitale Kontrakturen-Syndrom","synonyms":["Morse-Rawnsley-Sargent-Syndrom"],"definition":"Eine seltene und zum Tode führende Fehlbildung des zentralen Nervensystems, die während der Embryogenese auftritt und pränatal mit Holoprosenzephalie und fetaler Hypokinesie als Hauptmerkmale auftritt. Weitere Manifestationen sind Mikrozephalie, multiple Kontrakturen und intrauterine Wachstumsrestriktion. Seit 1988 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome letal de contracturas congénito con malformaciones corticales y restricción del crecimiento intrauterino","synonyms":["Síndrome de Morse-Rawnsley-Sargent"],"definition":"EEs una malformación del sistema nervioso central durante la embriogénesis, letal y poco frecuente, cuyas características prenatales principales son holoprosencefalia e hipocinesia fetal. Otras manifestaciones incluyen microcefalia, contracturas múltiples y restricción del crecimiento intrauterino. No ha habido más descripciones en la literatura desde 1988."},"it":{"name":"Sindrome letale da ritardo della crescita intrauterina - malformazioni corticali - contratture congenite","synonyms":["Sindrome di Morse-Rawnsley-Sargent","Sindrome oloprosencefalia-sequenza da acinesia/ipocinesia fetale"],"definition":"La sindrome oloprosencefalia-ipocinesia è una malformazione letale molto rara del sistema nervoso centrale dell'embrione. I principali segni clinici prenatali sono l'oloprosencefalia e l'ipocinesia fetale. Altri segni comprendono la microcefalia, le contratture multiple e il ritardo della crescita prenatale. Non sono stati descritti nuovi casi dopo il 1988."},"nl":{"name":"Letaal intra-uteriene groeirestrictie - corticale malformatie - congenitale contracturen-syndroom","synonyms":["Syndroom van Morse-Rawnsley-Sargent"],"definition":"Een zeldzame en fatale malformatie van centraal zenuwstelsel die optreedt tijdens embryogenese, en zich prenataal presenteert met holoprosencefalie en foetale hypokinesie als voornaamste kenmerken. Andere manifestaties zijn onder meer microcefalie, multipele contracturen en intra-uteriene groeirestrictie. Sinds 1988 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome letal de restrição do crescimento intrauterino-malformação cortical-contraturas congénitas","synonyms":["Síndrome Morse-Rawnsley-Sargent"]},"pl":{"name":"Zespół holoprozencefalii, hipokinezji i wrodzonych przykurczy","synonyms":["Zespół holoprozencefalii i sekwencji akinezji lub hipokinezji płodu","Zespół Morse'a, Rawnsley'a i Sargenta"],"definition":"Rzadka wada ośrodkowego układu nerwowego o przebiegu letalnym, występująca podczas embriogenezy i objawiająca się w okresie prenatalnym holoprosencefalią i hipokinezą płodu jako głównymi cechami. Inne objawy obejmują małogłowie, liczne przykurcze i wewnątrzmaciczne ograniczenie wzrostu. Od 1988 roku nie było dalszych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující holoprosencefalii, hypokinesii a vrozené kontraktury","synonyms":["Syndrom zahrnující holoprosencefalii a sekvenci fetální akinézie/hypokinézie","Morseův-Rawnsleyové-Sargentův syndrom","Morse-Rawnsley-Sargentův syndrom"]},"uk":{"name":"Летальний синдром затримки внутрішньоутробного розвитку - вади розвитку кори головного мозку - вроджені контрактури","synonyms":["Синдром Морзе-Ронслі-Сарджента"],"definition":"A rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988."},"zh":{"name":"致死性宫内生长受限-皮质畸形-先天性挛缩综合征","synonyms":["Morse-Rawnsley-Sargent 综合征"]},"tr":{"name":"Letal intrauterin büyüme kısıtlılığı-kortikal malformasyon-Doğumsal kontraktür sendromu","synonyms":["Morse-Rawnsley-Sargent sendromu"]}},"xrefs":[{"source":"OMIM","code":"306990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010610","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"10610","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274798","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3788","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"GPKOW","name":"G-patch domain and KOW motifs","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28612833[PMID]","hgnc":"30677","ensembl":"ENSG00000068394","omim":"301003","loci":["Xp11.23"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"3321025[PMID]_3211858[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3321025[PMID]_3211858[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010662","label":"Abnormality of the diencephalon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002324","label":"Hydranencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null}]}}