{"orpha":411501,"name":"Williams-Campbell syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-411501/","orphanet_url":"https://www.orpha.net/en/disease/detail/411501","names":{"fr":{"name":"Syndrome de Williams-Campbell","definition":"Malformation respiratoire rare caractérisée par l'absence ou un défaut de cartilage de la paroi bronchique au niveau des bronches sous-segmentaires, entraînant l'affaissement des voies respiratoires distales et contribuant à la formation d'une bronchiectasie. Le défaut se situe principalement entre la quatrième et la sixième division segmentaire des bronches. Les manifestations cliniques comprennent pneumonie récurrente, toux et respiration sifflante."},"de":{"name":"Williams-Campbell-Syndrom","definition":"Eine seltene, respiratorische Fehlbildung, die durch einen fehlgebildeten oder vollständig fehlenden Bronchialwandknorpel in den subsegmentalen Bronchien gekennzeichnet ist, der zu einem distalen Atemwegskollaps führt und zur Bildung einer Bronchiektasie beiträgt. Der Defekt ist meist zwischen den Bronchialabteilungen vierter und sechster Ordnung vorhanden. Die klinische Manifestation umfasst rezidivierende Pneumonie, Husten und Keuchen."},"es":{"name":"Síndrome de Williams-Campbell","definition":"Es una malformación respiratoria poco frecuente, caracterizada por un defecto o ausencia completa del cartílago de la pared bronquial en los bronquios subsegmentarios, que resulta en el colapso de la vía aérea distal y contribuye a la formación de bronquiectasias. El defecto se presenta, principalmente, entre las divisiones bronquiales de cuarto y sexto orden. Las manifestaciones clínicas incluyen neumonía recurrente, tos y sibilancias."},"it":{"name":"Sindrome di Williams-Campbell","definition":"Si tratta di una malformazione rara dell'apparato respiratorio, caratterizzata dall'assenza completa o da anomalie della cartilagine della parete bronchiale nei bronchi subsegmentari, che esita nel collasso delle vie aeree distali, contribuendo all'insorgenza di bronchiectasie. Il difetto si localizza per lo più tra il quarto e il quinto ordine bronchiale. I segni clinici comprendono la polmonite ricorrente, la tosse e l'affanno."},"nl":{"name":"Syndroom van Williams-Campbell","definition":"Een zeldzame, respiratoire malformatie gekarakteriseerd door deficiëntie of volledige afwezigheid van kraakbeen in de wand van subsegmentale bronchiën, wat leidt tot collaps van distale luchtwegen en bijdraagt tot de vorming van bronchiëctasieën. Het defect is meestal aanwezig tussen bronchiën van de vierde en zesde orde. Klinische manifestatie omvat recurrente pneumonie, hoest en piepende ademhaling."},"pt":{"name":"Síndrome de Williams -Campbell"},"pl":{"name":"Zespół Williamsa i Campbella"},"cs":{"name":"Williamsův-Campbellův syndrom","synonyms":["Williams-Campbellův syndrom"]},"uk":{"name":"Синдром Вільямса-Кемпбелла","definition":"A rare, respiratory malformation characterized by defective or completely absent bronchial wall cartilage in subsegmental bronchi, leading to distal airway collapse and contributing to the formation of bronchiectasis. The defect is mostly present between the fourth and sixth order bronchial divisions. Clinical manifestation includes recurrent pneumonia, coughing and wheezing."},"zh":{"name":"威廉-坎贝尔综合征","definition":"罕见的呼吸道畸形疾病，其特征在于支气管壁软骨有缺陷或完全不存在，导致远端气道塌陷和支气管扩张形成。该缺陷主要存在于第四至第六级支气管分支。临床表现包括反复发作的肺炎，咳嗽和喘息。"},"tr":{"name":"Williams-Campbell sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q32.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA74.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"766574679"},{"source":"MONDO","code":"0008888","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0340231","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108993,"name":"Non-syndromic respiratory or mediastinal malformation","classifications":[147,186]},{"orpha":182111,"name":"Respiratory malformation","classifications":[184]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Childhood"],"prevalence":[],"phenotypes":null}