{"orpha":573278,"name":"Split cord malformation","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["SCM"],"definition":"A rare malformation characterized by localized longitudinal division of the spinal cord into two \"hemicords\". Vertebro-costal anomalies are commonly associated. Classic overlying skin stigmata is a focal hypertrichosis/hairy patch. Split cord malformations may be associated with other dysraphic anomalies (eg: filum lipoma).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-573278/","orphanet_url":"https://www.orpha.net/en/disease/detail/573278","names":{"fr":{"name":"Moelle épinière dédoublée","synonyms":["SCM"],"definition":"Malformation rare caractérisée par une division localisée de la moelle épinière en deux hémimoelles et communément associée à des anomalies vertébro-costales. Un stigmate cutané est observé sous la forme d'une hypertrichose focale/zone poilue. Cette malformation peut exister sous une forme isolée ou en présence d'autres anomalies dysraphiques (e.g. : lipome du filum)."},"de":{"name":"Split-Cord-Malformation","synonyms":["SCM"],"definition":"Eine seltene Fehlbildung, die durch eine örtlich begrenzte Längsteilung des Rückenmarks in zwei Halbstränge gekennzeichnet ist. Häufig treten auch Wirbel- und Rippenanomalien auf. Klassisches Merkmal der darüber liegenden Haut ist eine fokale Hypertrichose/Haarfleck. Neuralrohrdefekte können mit anderen dysraphischen Entwicklungsstörungen vergesellschaftet sein (z.B. Filum lipoma)."},"es":{"name":"Malformación de médula espinal hendida","definition":"Es una malformación poco frecuente caracterizada por una división longitudinal localizada de la médula espinal en dos \"hemicordones\". Comúnmente asocia anomalías vertebrocostales. El estigma cutáneo suprayacente clásico es una hipertricosis focal/ parche piloso. Las malformaciones de la médula hendida pueden estar asociadas a otras anomalías disráficas (como el lipoma del filum)."},"it":{"name":"Malformazione da fissurazione longitudinale del midollo spinale","synonyms":["SCM"]},"nl":{"name":"Gespleten ruggenmerg-malformatie","synonyms":["SCM"],"definition":"Een zeldzame malformatie, gekenmerkt door gelokaliseerde longitudinale splijting van het ruggenmerg in twee helften (hemicord). Doorgaans zijn anomalieën van wervel en rib geassocieerd. Een klassiek stigma van bovenliggende huid is een focale hypertrichose/behaarde plek. Gespleten ruggenmerg-malformaties kunnen geassocieerd zijn met andere dysrafische anomalieën (zoals lipoom van filum)."},"pt":{"name":"Malformação do cordão dividido","definition":"Malformação rara caracterizada por divisão longitudinal localizada da medula espinhal em dois ''hemicordões''. Estão normalmente associadas anomalias vértebro-costais. Os estigmas cutâneos clássicos sobrepostos são hipertricose focal/mancha pilosa. As malformações de divisão da medula podem estar associadas a outras anomalias disráficas (ex.: lipoma do filo)."},"pl":{"name":"Malformacja rozszczepionego sznura","synonyms":["SCM"],"definition":"Rzadka wada rozwojowa charakteryzująca się miejscowym, podłużnym podziałem rdzenia kręgowego na dwa pasma. Często towarzyszą wady kręgów i żeber. Klasyczne znamiona skórne to ogniskowe nadmierne owłosienie/obszary z włosami. Wady rozszczepowe kręgosłupa mogą być powiązane z innymi wadami dysraficznymi (np. tłuszczakiem nici)."},"cs":{"name":"Diastematomyelie","synonyms":["SCM"]},"uk":{"name":"Розщеплення пуповини","synonyms":["SCM"],"definition":"A rare malformation characterized by localized longitudinal division of the spinal cord into two \"hemicords\". Vertebro-costal anomalies are commonly associated. Classic overlying skin stigmata is a focal hypertrichosis/hairy patch. Split cord malformations may be associated with other dysraphic anomalies (eg: filum lipoma)."},"zh":{"name":"脊髓分裂畸形","synonyms":["SCM"]},"tr":{"name":"Bölünmüş kord malformasyonu","synonyms":["SCM"]}},"xrefs":[{"source":"ICD-10","code":"Q06.2","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":645202,"name":"Closed spinal dysraphism","classifications":[147,156,181]},{"orpha":268843,"name":"Malformation of the neurenteric canal, spinal cord and column","classifications":[147,181]}],"children":[{"orpha":1671,"name":"Split cord malformation type I","type":"Morphological anomaly"},{"orpha":573253,"name":"Split cord malformation type II","type":"Morphological anomaly"},{"orpha":633076,"name":"Split cord malformation, composite type","type":"Morphological anomaly"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}