{"orpha":488434,"name":"Camptodactyly syndrome, Guadalajara type 3","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488434/","orphanet_url":"https://www.orpha.net/en/disease/detail/488434","names":{"fr":{"name":"Camptodactylie de Guadalajara type 3","definition":"Anomalie rare du développement osseux d'origine génétique caractérisée par une camptodactylie des mains associée à une dysmorphie faciale (visage plat, hypertélorisme, télécanthus, symblépharon, pavillon de l'oreille simple, rétrognathie) et à des anomalies du cou (cou court avec ptérygion, sclérose musculaire). Parmi les autres caractéristiques figurent des anomalies de la colonne vertébrale (spina bifida occulta cervical et dorso-lombaire), un raccourcissement congénital du muscle sterno-cléido-mastoïdien, des poignets en flexion et des mains et des pieds fins. Des anomalies structurelles du cerveau, des nævi multiples, un micropénis et une légère déficience intellectuelle sont également observés. L'imagerie révèle un épaississement de travées osseuses, un épaississement cortical des os longs et un retard de l'âge osseux."},"de":{"name":"Kamptodaktylie Guadalajara Typ 3","definition":"Eine seltene, genetisch bedingte Knochenentwicklungsstörung, die durch eine Kamptodaktylie der Hände in Verbindung mit Gesichtsdysmorphien (flaches Gesichtsprofil, Hypertelorismus, Telekanthus, Symblepharon, vereinfachte Ohren, Retrognathie) und Halsanomalien (kurzer Hals mit ausgeprägten Pterygium, Sklerose der Muskeln) gekennzeichnet ist. Weitere Merkmale sind Wirbelsäulendefekte (z. B. zervikale und dorso-lumbale Spina bifida occulta), angeborene Verkürzung des M. sternocleidomastoideus, gebeugte Handgelenke und dünne Hände und Füße. Hirnstrukturanomalien, multiple Nävi, Mikropenis und eine leichte Intelligenzminderung werden ebenfalls beobachtet. Die Bildgebung zeigt vergrößerte Knochentraveolen, kortikale Verdickungen der Röhrenknochen und ein verzögertes Knochenalter."},"es":{"name":"Síndrome de camptodactilia de Guadalajara tipo 3","definition":"Es un trastorno genético poco frecuente del desarrollo óseo caracterizado por camptodactilia de la mano asociada a dismorfia facial (cara plana, hipertelorismo, telecanto, simbléfaron, pabellones auriculares simplificados, retrognatia) y anomalías cervicales (cuello corto con pterigia, esclerosis muscular). Los hallazgos adicionales incluyen defectos espinales (p. ej., espina bífida oculta cervical y dorso-lumbar), acortamiento congénito del músculo esternocleidomastoideo, muñecas en flexión y manos y pies delgados. También se observan anomalías estructurales cerebrales, nevos múltiples, micropene y leve discapacidad intelectual. Las pruebas de imagen revelan un aumento de las trabéculas óseas, engrosamiento cortical de los huesos largos y retraso de la edad ósea."},"it":{"name":"Camptodattilia di Guadalajara tipo 3","definition":"La camptodattilia di Guadalajara tipo 3 è una malattia genetica rara dello sviluppo dell'osso, caratterizzata da camptodattilia delle mani associata a dismorfismi facciali (viso appiattito, ipertelorismo, telecanto, simblefaron, orecchie semplificate, retrognazia) e anomalie del collo (collo corto con pterigi marcati, sclerosi dei muscoli). Altri segni clinici sono i difetti della colonna vertebrale (spina bifida occulta cervicale e dorso-lombare), la brevità congenita del muscolo sternocleidomastoideo, i polsi flessi e le mani e i piedi sottili. I pazienti possono presentare anomalie della struttura del cervello, nevi multipli, micropene e lieve disabilità intellettiva. Le immagini diagnostiche evidenziano un aumento della trabecolatura dell'osso, un ispessimento corticale delle ossa lunghe e un ritardo dell'età ossea."},"nl":{"name":"Camptodactyliesyndroom, Guadalajara-type 3","definition":"Camptodactyliesyndroom, Guadalajara type 3 is een zeldzame, genetische stoornis van botontwikkeling, gekarakteriseerd door camptodactylie van hand, geassocieerd met faciale dysmorfie (plat gelaat, hypertelorisme, telecanthus, symblefaron, simpele oren, retrognathie) en nekanomalieën (korte nek met opvallende huidplooi (pterygium colli), sclerose van spieren). Bijkomende kenmerken zijn onder meer defecten aan de wervelkolom (e.g. cervicale en dorso-lumbale spina bifida occulta), congenitale verkorte musculus sternocleidomastoideus (borstbeen-sleutelbeen-tepelspier), polsen in flexiestand en ranke handen en voeten. Structurele hersenanomalieën, multipele naevi, micropenis en milde intellectuele achterstand worden ook waargenomen. Beeldvorming toont toename van bottrabekels, corticale verdikking van pijpbeenderen en vertraagde botmaturatie."},"pt":{"name":"Síndrome de camptodactilia, Guadalajara tipo 3"},"pl":{"name":"Zespół kamptodaktylii, Guadalajara typ 3"},"cs":{"name":"Syndrom kamptodaktylie, guadalajarský typ 3"},"uk":{"name":"Синдром камптодактилії, гвадалахарський тип 3","definition":"Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with stricking pterygia, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone traveculae, cortical thickening of long bones and delayed bone age."},"zh":{"name":"先天性指屈曲综合征-瓜达拉哈拉3型","definition":"先天性指屈曲综合征，Guadalajara 3型是一种罕见的遗传性骨骼发育障碍，其特征是指屈曲，同时伴有面部畸形（扁平脸、器官间距过远、眼角距远、睑球粘连、耳廓简化、颌后缩）和颈部异常（短颈伴翼状胬肉、肌肉硬化）。其他特征包括脊柱缺损（如颈椎和腰背隐性脊柱裂）、先天性胸锁乳突肌短小、腕关节屈曲和手脚瘦小。还可观察到脑结构异常、多发性痣、小阴茎和轻度智力障碍。影像学检查显示骨小梁增多，长骨皮质增厚，骨龄延迟。"},"tr":{"name":"Kamptodaktili sendromu, Guadalajara tip 3"}},"xrefs":[{"source":"OMIM","code":"611929","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012759","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567455","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2677809","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10573","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":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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"12401988[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12401988[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-10","source":"12401988[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010761","label":"Broad columella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006402","label":"Distal shortening of limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001054","label":"Numerous nevi","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200055","label":"Small hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012036","label":"Sternocleidomastoid amyotrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430007","label":"Symblepharon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000935","label":"Thickened cortex of long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Occasional (29-5%)","criteria":null}]}}