{"orpha":199315,"name":"Familial clubfoot with or without associated lower limb anomalies","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-199315/","orphanet_url":"https://www.orpha.net/en/disease/detail/199315","names":{"fr":{"name":"Pied bot familial avec ou sans autres anomalies des membres inférieurs","definition":"Un syndrome rare de malformation congénitale des membres, caractérisé par un désalignement des os et des articulations du pied et de la cheville, associé à un avant-pied et un médio-pied adductus, un arrière-pied varus et un équin de la cheville, et se manifestant par un pied rigide tourné vers l'intérieur vers la ligne médiane, chez plusieurs membres d'une même famille. Une hypoplasie des muscles de la partie inférieure de la jambe est fréquemment associée. Les patients peuvent présenter d'autres malformations des membres inférieurs, telles qu'une hypoplasie patellaire, un talon oblique, une hémimélie tibiale et une polydactylie."},"de":{"name":"Klumpfuß, familiärer, mit oder ohne untere Extremitätenanomalie","definition":"Der familiäre Klumpfuß mit oder ohne assoziierte Anomalien der unteren Gliedmaßen ist ein seltene kongenitale Gliedmaßenfehlbildung, die sich bei verschiedenen Mitgliedern einer einzelnen Familie zeigt. Sie ist gekennzeichnet durch eine Fehlstellung der Knochen und Gelenke des Fußes und des Sprunggelenks, mit dem Vorhandensein von Vorfuß- und Mittelfußadduktion, Rückfußvarus und Spitzfuß, die sich als starre Einwärtsdrehung des Fußes zur Mittellinie hin darstellen. Eine Hypoplasie der Unterschenkelmuskulatur ist ein häufiger Begleitbefund. Die Patienten können auch andere Fehlbildungen der unteren Gliedmaßen aufweisen, wie z. B. Patellahypoplasie, Talus vertikalis, tibiale Hemimelie und Polydaktylie."},"es":{"name":"Pie zambo familiar con o sin anomalías de las extremidades inferiores","definition":"El pie zambo familiar con o sin anomalías de las extremidades inferiores es un síndrome de malformaciones congénitas poco frecuente de las extremidades caracterizado por una mala alineación de los huesos y articulaciones del pie y tobillo, con presencia de aductos del antepié y mediopié, retropié varo y tobillo equino, presentándose como pie en rotación interna rígida hacia la línea media, en varios miembros de una misma familia. Se asocia con frecuencia a hipoplasia de los músculos inferiores de la pierna. Los afectados pueden presentar otras malformaciones de miembros inferiores, tales como hipoplasia de la rótula, astrágalo oblicuo, hemimelia tibial y polidactilia."},"it":{"name":"Piede torto familiare con o senza anomalie degli arti inferiori correlate","definition":"Il piede torto familiare con o senza anomalie degli arti inferiori è una malattia malformativa congenita rara degli arti, caratterizzata dal disallineamento delle ossa e delle articolazioni del piede e della caviglia, con adduzione dell'avampiede e del mesopiede, varismo del retropiede ed equinismo della caviglia. Si manifesta con la rigidità del piede, che è rivolto all'interno verso la linea mediana, che ricorre in più membri della stessa famiglia. Spesso si associa all'ipoplasia dei muscoli della porzione inferiore della gamba. Possono associarsi altre malformazioni degli arti inferiori, come l'ipoplasia della rotula, il talo obliquo, l'emimelia della tibia e la polidattilia."},"nl":{"name":"Familiale klompvoet met of zonder geassocieerde onderste ledemaatanomalieën","definition":"Familiale klompvoet met of zonder geassocieerde onderste ledemaatanomalieën is een zeldzaam congenitaal ledemaatmalformatiesyndroom, en wordt gekarakteriseerd door verkeerde alignering van de beenderen en gewrichten van de voet en de enkel, met aanwezigheid van adductie van voor- en middenvoet, varus van de achtervoet, en equinus van de enkel, met als gevolg een star naar binnen draaien van de voet richting de middellijn, in verscheidene leden van één enkele familie. Hypoplasie van de spieren in de onderbenen is een frequent geassocieerde bevinding. Patiënten vertonen mogelijk andere malformaties van de onderste ledematen, zoals hypoplasie van de patella (knieschijf), oblique talus, hemimelie van de tibiae, en polydactylie."},"pt":{"name":"Hemimelia tibial - pé boto"},"pl":{"name":"Rodzinna stopa końsko-szpotawa z lub bez towarzyszących wad kończyny dolnej"},"cs":{"name":"Familiární pes equinovarus s nebo bez dalších anomálií dolních končetin"},"uk":{"name":"Сімейна клишоногість з або без супутніх аномалій нижніх кінцівок","definition":"Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly."},"zh":{"name":"家族性马蹄内翻足伴或不伴下肢畸形","definition":"家族性马蹄内翻足伴或不伴下肢畸形是一种罕见的先天性肢体畸形综合征，其主要临床表现为一个家庭的不同成员出现足和踝关节的骨和关节排列不齐，伴有前脚和中足内收畸形、后足内翻畸形和踝关节马蹄内翻畸形，具体表现为足部向中线的内翻，大多数患者出现小腿肌肉发育不良和其他下肢畸形，如髌骨发育不全、倾斜距骨症、胫侧半肢畸形和多指（趾）畸形。"},"tr":{"name":"Alt ekstremite anomalileri olan veya olmayan ailesel çarpık ayak"}},"xrefs":[{"source":"OMIM","code":"119800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613618","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q66.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB98.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016046","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680522","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404571,"name":"Dysostosis of genetic origin with limb anomaly as a major feature","classifications":[156]},{"orpha":364568,"name":"Dysostosis with limb anomaly as a major feature","classifications":[147,199]},{"orpha":404577,"name":"Genetic syndrome with limb malformations as a major feature","classifications":[156]},{"orpha":109009,"name":"Syndrome with limb malformations as a major feature","classifications":[147]}],"children":[{"orpha":238578,"name":"Familial clubfoot due to 17q23.1q23.2 microduplication","type":"Etiological subtype"},{"orpha":293144,"name":"Familial clubfoot due to 5q31 microdeletion","type":"Etiological subtype"},{"orpha":293150,"name":"Familial clubfoot due to PITX1 point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"PITX1","name":"paired like homeodomain 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18950742[PMID]","hgnc":"9004","ensembl":"ENSG00000069011","omim":"602149","loci":["5q31.1"],"via":{"orpha":293150,"name":"Familial clubfoot due to PITX1 point mutation"}},{"symbol":"PITX1","name":"paired like homeodomain 1","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21775501[PMID]","hgnc":"9004","ensembl":"ENSG00000069011","omim":"602149","loci":["5q31.1"],"via":{"orpha":293144,"name":"Familial clubfoot due to 5q31 microdeletion"}},{"symbol":"TBX4","name":"T-box transcription factor 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"20598276[PMID]","hgnc":"11603","ensembl":"ENSG00000121075","omim":"601719","loci":["17q23.2"],"via":{"orpha":238578,"name":"Familial clubfoot due to 17q23.1q23.2 microduplication"}}],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}