{"orpha":508410,"name":"Familial intestinal malrotation","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-508410/","orphanet_url":"https://www.orpha.net/en/disease/detail/508410","names":{"fr":{"name":"Malrotation intestinale familiale","definition":"Malrotation intestinale familiale rare caractérisée par une mauvaise réintégration de l'intestin dans l'abdomen pendant le développement intra-utérin qui reste enroulé autour de l'artère mésentérique supérieure, entraînant un spectre de malformations de la position et de la fixation de l'intestin. Les patients présentent le plus souvent au cours de la période néonatale, un volvulus de l'intestin moyen pouvant entraîner le syndrome de l'intestin court, voire le décès. Les signes cliniques et symptômes sont des vomissements bilieux, une intolérance alimentaire, un retard de croissance staturo-pondéral, une constipation, des selles sanglantes ou une apnée intermittente. La maladie peut également se manifester plus tard dans la vie par des complications telles qu'une torsion ou des hernies, ainsi que de nombreux symptômes intestinaux. La maladie peut être isolée ou survenir en association avec d'autres malformations."},"de":{"name":"Familiäre intestinale Malrotation","definition":"Eine seltene familiäre Fehlbildung des Darms, die durch eine fehlerhafte Rotation des sich entwickelnden Gastrointestinaltraktes um die Arteria mesenterica superior während der Embryonalentwicklung gekennzeichnet ist und zu einer Reihe von Anomalien der Lage und Fixierung des Darms führt. Die Patienten präsentieren sich typischerweise in der Neugeborenenperiode mit einer Mitteldarmvolvulus, die zu einem Kurzdarmsyndrom oder sogar zum Tod führen kann. Zu den Anzeichen und Symptomen gehören galliges Erbrechen, Nahrungsmittelintoleranz, Gedeihstörungen, Verstopfung, blutiger Stuhl oder intermittierender Atemstillstand. Die Erkrankung kann sich auch im späteren Leben mit Komplikationen wie Knickbildung oder Hernien und einem breiten Spektrum von Darmsymptomen manifestieren. Die Störung kann isoliert oder in Verbindung mit anderen Anomalien auftreten."},"es":{"name":"Malrotación intestinal familiar","definition":"Es una malformación intestinal familiar poco frecuente caracterizada por un defecto de la rotación del tracto gastrointestinal en desarrollo alrededor de la arteria mesentérica superior durante el desarrollo embrionario, resultando en un espectro de anomalías de la posición y de la fijación intestinal. Los pacientes se presentan típicamente en el período neonatal con vólvulos del intestino medio, que pueden provocar síndrome del intestino corto o incluso el fallecimiento. Los signos y síntomas incluyen vómitos biliosos, intolerancia alimentaria, fallo de medro, estreñimiento, heces con sangre o apnea intermitente. El trastorno también puede manifestarse en edades más tardías con complicaciones tales como retorcimientos o hernias y una amplia gama de síntomas intestinales. Puede ser un hallazgo aislado u ocurrir en asociación a otras anomalías."},"it":{"name":"Malrotazione intestinale familiare","definition":"Si tratta di una malformazione intestinale familiare rara, caratterizzata dalla mancata rotazione del tratto gastrointestinale in via di sviluppo attorno all'arteria mesenterica superiore durante lo sviluppo dell'embrione, nell'ambito di una serie di anomalie della posizione e della fissazione dell'intestino. Di solito la malattia esordisce nel periodo neonatale con il volvolo dell'intestino medio, che può esitare nella sindrome dell'intestino corto o persino nella morte. I segni clinici comprendono il vomito biliare, l'intolleranza alimentare, il ritardo della crescita, la costipazione, il sangue nelle feci e le apnee intermittenti. La malattia può manifestarsi anche più tardivamente con complicanze, come le deviazioni o le ernie, e con un'ampia gamma di sintomi intestinali. L'anomalia può essere isolata oppure associarsi ad altri difetti."},"nl":{"name":"Familiale intestinale malrotatie","definition":"Een zeldzame familiale malformatie van darm, gekarakteriseerd door falen van de rotatie van het ontwikkelende maag-darmstelsel rond de arteria mesenterica superior (bovenste darmslagader) tijdens de embryonale ontwikkeling, wat resulteert in een spectrum van afwijkingen van positie en fixatie van darm. Patiënten presenteren zich doorgaans in de neonatale periode met volvulus van middendarm, wat kan leiden tot kortedarmsyndroom of zelfs overlijden. Verschijnselen en symptomen zijn onder meer galbraken, voedselintolerantie, groeifalen, constipatie, hematochezie (bloed in ontlasting), of intermitterende apneu. De aandoening kan zich ook pas op latere leeftijd manifesteren, met complicaties zoals torsie of hernia en een brede waaier van intestinale symptomen. De aandoening kan geïsoleerd voorkomen, of geassocieerd zijn met andere anomalieën."},"pt":{"name":"Malrotação intestinal familiar"},"pl":{"name":"Rodzinny niedokonany zwrot jelit"},"cs":{"name":"Familiární střevní malrotace"},"uk":{"name":"Сімейна кишкова мальротація","definition":"A rare familial intestinal malformation characterized by failure of the rotation of the developing gastrointestinal tract around the superior mesenteric artery during embryonic development, resulting in a spectrum of abnormalities of intestinal position and fixation. Patients most typically present in the neonatal period with midgut volvulus, which can lead to short bowel syndrome or even death. Signs and symptoms include bilious vomiting, feeding intolerance, failure to thrive, constipation, bloody stools, or intermittent apnea. The condition may also manifest later in life with complications like kinking or hernias and a broad range of intestinal symptoms. It can be an isolated finding or occur in association with other anomalies."},"zh":{"name":"家族性肠道旋转不良"},"tr":{"name":"Ailesel bağırsak malrotasyonu"}},"xrefs":[{"source":"ICD-10","code":"Q43.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034819","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2454,"name":"OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108967,"name":"Non-syndromic intestinal malformation","classifications":[147,156,182,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Very frequent (99-80%)","criteria":null}]}}