{"orpha":2565,"name":"Mononen-Karnes-Senac syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Skeletal dysplasia-brachydactyly syndrome"],"definition":"A rare dysostosis with brachydactyly without extraskeletal manifestations characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with fibular overgrowth. Females were reported to exhibit phenotypic variation and be less severely affected than males who were similarly affected. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2565/","orphanet_url":"https://www.orpha.net/en/disease/detail/2565","names":{"fr":{"name":"Syndrome de Mononen-Karnes-Senac","synonyms":["Syndrome de dysplasie squelettique-brachydactylie"],"definition":"Le yndrome de Mononen-Karnes-Senac est caractérisé par une dysplasie squelettique associée à des malformations des doigts (brachydactylie avec pouces courts en abduction, index courts et gros orteils en abduction très courts), une petite taille variable, et des jambes légèrement incurvées avec une croissance excessive du péroné. Il a été décrit chez deux hommes, leurs mères et une tante maternelle. Les femmes sont moins sévèrement atteintes que les hommes. Une transmission dominante liée à l'X a été suggérée."},"de":{"name":"Mononen-Karnes-Senac-Syndrom","synonyms":["Skelettdysplasie-Brachydaktylie-Syndrom"],"definition":"Eine seltene Dysostose mit Brachydaktylie ohne extraskelettale Manifestationen, gekennzeichnet durch Skelettdysplasie in Verbindung mit Fehlbildungen der Finger (Brachydaktylie mit kurzen und abduzierten Daumen, kurzen Zeigefingern und deutlich kurzen und abduzierten großen Zehen), variabler leichter Kleinwuchs und leichtes O-Bein mit fibulärem Überwachsen. Es wurde berichtet, dass Frauen phänotypische Variationen aufweisen und weniger stark betroffen sind als Männer mit ähnlichen Symptomen. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Mononen-Karnes-Senac","synonyms":["Síndrome de displasia esquelética-braquidactilia"],"definition":"Es una disostosis poco frecuente con braquidactilia sin manifestaciones extraesqueléticas, caracterizada por displasia esquelética asociada a malformaciones en los dedos (braquidactilia con pulgares cortos y abducidos, dedos índice cortos y dedos gordos notablemente cortos y abducidos), talla baja leve y variable, y piernas ligeramente incurvadas con sobrecrecimiento peroneo. Se ha descrito que las mujeres presentan variación fenotípica y una afectación menos grave que los hombres con afectación similar. No se han publicado más descripciones en la literatura desde 1992."},"it":{"name":"Sindrome di Mononen-Karnes-Senac","synonyms":["Displasia scheletrica - brachidattilia"]},"nl":{"name":"Syndroom van Mononen-Karnes-Senac","synonyms":["Skeletdysplasie - brachydactylie-syndroom"],"definition":"Een zeldzame dysostose met brachydactylie zonder extraskeletale manifestaties, gekenmerkt door skeletdysplasie geassocieerd met malformaties van vingers (brachydactylie met korte duimen en abductie van de duimen, korte wijsvingers, aanzienlijk korte grote tenen en abductie van de grote tenen), variabele milde kleine gestalte, en milde O-benen met overgroei van fibula. Er werd gemeld dat vrouwen fenotypische variatie vertonen en minder ernstig aangetast zijn dan getroffen mannen. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Mononen-Karnes-Senac","synonyms":["Síndrome de displasia óssea-braquidactilia"]},"pl":{"name":"Zespół Mononena, Karnesa i Senac","synonyms":["Dysplazja szkieletowa - brachydaktylia"]},"cs":{"name":"Mononenové-Karnesové-Senacův syndrom","synonyms":["Syndrom zahrnující skeletální dysplázii a brachydaktylii","Mononen-Karnes-Senacův syndrom"]},"uk":{"name":"Синдром Мононена-Карнеса-Сенака","synonyms":["Синдром скелетної дисплазії-брахідактилії"],"definition":"Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested."},"zh":{"name":"Mononen-Karnes-Senac综合征","synonyms":["Mononen-Karnes-Senac综合征"]},"tr":{"name":"Mononen-Karnes-Senac sendromu","synonyms":["İskelet displazisi-brakidaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"301940","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010538","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535914","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931060","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4886","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":498451,"name":"Dysostosis with brachydactyly without extraskeletal manifestations","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1632443[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1632443[PMID]"}],"phenotypes":null}