{"orpha":2523,"name":"Microcephaly-brain defect-spasticity-hypernatremia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Franek-Bocker-Kahlen syndrome"],"definition":"Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2523/","orphanet_url":"https://www.orpha.net/en/disease/detail/2523","names":{"fr":{"name":"Syndrome de microcéphalie-hypoplasie cérébrale-spasticité","synonyms":["Syndrome de Frarek-Bocker-Kahlen"],"definition":"Syndrome génétique congénital rare avec malformation du système nerveux central comme manifestation majeure caractérisé par une microcéphalie, une hypertonie, un retard de développement et des troubles cognitifs, des troubles de la déglutition, une hypernatrémie, une hypoplasie des parties frontales et une fusion des ventricules latéraux visible à l'IRM cérébrale. Aucun cas n'a été décrit dans la littérature depuis 1986."},"de":{"name":"Mikrozephalie-Hirndefekt-Spastik-Hypernatriämie-Syndrom","synonyms":["Frarek-Bocker-Kahlen-Syndrom"]},"es":{"name":"Síndrome de microcefalia-hipoplasia cerebral-espasticidad-hipernatremia","synonyms":["Síndrome de Frarek-Bocker-Kahlen"],"definition":"Es un síndrome congénito, genético y poco frecuente, que consiste principalmente en una malformación del sistema nervioso central caracterizada por microcefalia, hipertonía, retraso del desarrollo y deterioro cognitivo, disfagia e hipernatremia, así como hipoplasia de las áreas frontales y fusión de los ventrículos laterales patentes en imágenes de RM. No ha habido casos adicionales descritos en la literatura desde 1986."},"it":{"name":"Sindrome da microcefalia, anomalie cerebrali, spasticità ed ipernatriemia","synonyms":["Sindrome di Frarek-Bocker-Kahlen"],"definition":"La sindrome che associa la microcefalia, le anomalie cerebrali, la spasticità e l'ipernatriemia è una malattia congenita rara, di origine genetica, che presenta, come caratteristica principale, una malformazione del sistema nervoso centrale, associata alla microcefalia, all'ipertonia, al ritardo dello sviluppo e al deficit cognitivo, alle difficoltà di deglutizione, all'ipernatriemia, all'ipoplasia delle porzioni frontali e alla fusione dei ventricoli laterali, evidenti alla RMN del cervello. Non sono stati descritti nuovi casi dopo il 1986."},"nl":{"name":"Microcefalie - hersendefect - spasticiteit - hypernatriëmie-syndroom","synonyms":["Syndroom van Franek-Bocker-Kahlen"],"definition":"Microcefalie - hersendefect - spasticiteit - hypernatriëmie-syndroom is een zeldzaam, congenitaal, genetisch syndroom met een malformatie van het centrale zenuwstelsel als hoofdkenmerk, en wordt gekarakteriseerd door microcefalie, hypertonie, ontwikkelingsachterstand, cognitieve beperkingen, moeilijkheden met slikken, en hypernatriëmie, alsook hypoplasie van de frontale delen en fusie van de laterale ventrikels bij MRI van de hersenen. Sinds 1986 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de microcefalia-anomalia cerebral-espasticidade-hipernatremia","synonyms":["Síndrome Franek-Bocker-Kahlen"]},"pl":{"name":"Zespół małogłowie-wady mózgu-spastyczność-hipernatremia","synonyms":["Zespół Franeka, Bockera i Kahlena"],"definition":"*Zespół małogłowie-wady mózgu-spastyczność-hipernatremia jest rzadkim, wrodzonym, uwarunkowanym genetycznie zespołem z wadą ośrodkowego układu nerwowego jako główną cechą; charakteryzuje się małogłowiem, wzmożonym napięciem mięśniowym, opóźnieniem rozwoju i zaburzeniami poznawczymi, trudnościami w połykaniu, hipernatremią, a w MRI mózgu - niedorozwojem części czołowych i fuzją komór bocznych. Od 1986 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující mikrocefalii, poškození mozku, spasticitu a hypernatrémii","synonyms":["Franekův-Bockerův-Kahlenův syndrom","Franek-Bocker-Kahlenův syndrom"]},"uk":{"name":"Синдром мікроцефалії-дефекту головного мозку-спастичності-гіпернатріємії","synonyms":["Синдром Франека-Бокера-Калена"],"definition":"Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. There have been no further descriptions in the literature since 1986."},"zh":{"name":"小头畸形-大脑缺陷-痉挛状态-高钠血症综合征","synonyms":["Franek-Bocker-Kahlen 综合征"]},"tr":{"name":"Mikrosefali-beyin defekti-spastisite-hipernatremi sendromu","synonyms":["Franek-Bocker-Kahlen sendromu"]}},"xrefs":[{"source":"ICD-10","code":"G98","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD20.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1323483735"},{"source":"MONDO","code":"0016758","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749368","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3607","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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3784440[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3784440[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001939","label":"Abnormality of metabolism/homeostasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null}]}}