{"orpha":1321,"name":"Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Goodman camptodactyly"],"definition":"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1321/","orphanet_url":"https://www.orpha.net/en/disease/detail/1321","names":{"fr":{"name":"Syndrome de camptodactylie-hyperplasie fibreuse-anomalies squelettiques","synonyms":["Camptodactylie de Goodman"],"definition":"Le syndrome de camptodactylie-dysplasie osseuse est un syndrome malformatif chondrodysplasique extrêmement rare caractérisé par l'association d'une arachnodactylie qui devient évidente autour de l'âge de dix ans, d'une camptodactylie (orteils en marteau) et d'une scoliose. Une dysmorphie faciale légère a été aussi notée, incluant un nez large et des narines évasées, ainsi qu'un déficit intellectuel léger. Le syndrome de camptodactylie-dysplasie osseuse a été décrit une fois chez trois frères et soeurs, et pourrait suivre un mode de transmission autosomique récessive. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1972."},"de":{"name":"Kamptodaktylie-fibröse Gewebehyperplasie-Skelettdysplasie-Syndrom","synonyms":["Kamptodaktylie Typ Goodman"],"definition":"Ein äußerst seltenes chondrodysplastisches Fehlbildungssyndrom, das durch die Kombination von Arachnodaktylie, die sich etwa im Alter von 10 Jahren bemerkbar macht, Kamptodaktylie und Skoliose gekennzeichnet ist. Beschrieben wurden auch leichte faziale Dysmorphien (breite Nase, weite Nasenflügel) und leichte Intelligenzminderung. Seit 1972 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de camptodactilia-hiperplasia del tejido fibroso-anomalías esqueléticas","synonyms":["Camptodactilia de Goodman"],"definition":"Es un síndrome de malformación condrodisplásica extremadamente infrecuente caracterizado por la combinación de aracnodactilia, que se hace evidente alrededor de los 10 años de edad, camptodactilia y escoliosis. Otras manifestaciones descritas son una leve discapacidad intelectual y un leve dismorfia facial, incluyendo nariz amplia con fosas nasales ensanchadas. No ha habido más descripciones en la literatura desde 1972."},"it":{"name":"Sindrome da camptodattilia, iperplasia del tessuto fibroso e displasia scheletrica","synonyms":["Camptodattilia di Goodman"],"definition":"La sindrome camptodattilia-iperplasia del tessuto fibroso-displasia scheletrica è una sindrome malformativa condrodisplasica caratterizzata dall'associazione tra l'aracnodattilia, che è evidente attorno ai 10 anni, la camptodattilia (dita a martello) e la scoliosi. Sono anche presenti lievi dismorfismi facciali, con naso ampio e narici allargate e lieve deficit cognitivo. La sindrome camptodatillia-iperplasia del tessuto fibroso-displasia scheletrica è stata descritta in tre fratelli, suggerendo una trasmissione autosomica recessiva. Gli ultimi casi pubblicati risalgono al 1972."},"nl":{"name":"Camptodactylie - hyperplasie van fibreus weefsel - skeletanomalieën-syndroom","synonyms":["Camptodactylie van Goodman"],"definition":"Een uiterst zeldzaam chondrodysplastisch malformatiesyndroom, gekenmerkt door de combinatie van arachnodactylie, die duidelijk wordt rond de leeftijd van 10 jaar, camptodactylie, en scoliose. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer milde intellectuele achterstand en milde faciale dysmorfie, zoals brede neus en opengesperde neusvleugels. Sinds 1972 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de camptodactilia-hiperplasia do tecido fibroso-anomalias esqueléticas","synonyms":["Camptodactilia Goodman"]},"pl":{"name":"Kamptodaktylia -hiperplazja tkanki włóknistej - dysplazja szkieletowa","synonyms":["Kamptodaktylia Goodmana","Zespół kamptodaktylii-przerostu tkanki włóknistej-wad układu szkieletowego"],"definition":"Kamptodaktylia - hiperplazja tkanki włóknistej - dysplazja szkieletowa jest to bardzo rzadki zespół malformacji chondrodysplastycznej, który charakteryzuje się występowaniem arachnodaktylii, widocznej w wieku około 10 lat, kamptodaktylii (paluchy młotkowe) i skoliozy. Łagodna dysmorfia twarzy, w tym szeroki nos i rozszerzone nozdrza, lekka niepełnosprawność intelektualna były również odnotowane. Zespół ten został opisany dotąd jeden raz u 3 rodzeństwa i podejrzewa się autosomalny recesywny typ dziedziczenia. Nie było żadnych dalszych opisów w literaturze od 1972 roku."},"cs":{"name":"Syndrom zahrnující kamptodaktylii, hyperplázii vazivové tkáně a skeletální dysplázii","synonyms":["Goodmanova kamptodaktylie"]},"uk":{"name":"Синдром камптодактилії - гіперплазії фіброзної тканини - скелетних аномалій","synonyms":["Камптодактилія Гудмана"],"definition":"An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972."},"zh":{"name":"指屈曲-纤维组织增生-骨骼发育不良综合征","synonyms":["Goodman指弯曲畸形"]},"tr":{"name":"Kamptodaktili lifli doku hiperplazisi-iskelet displazisi sendromu","synonyms":["Goodman kamptodaktili"]}},"xrefs":[{"source":"OMIM","code":"211930","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008900","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537287","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848327","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1064","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":3.0,"area":"Worldwide","status":"Validated","source":"5046631[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"5046631[PMID]_ORPHANET"}],"phenotypes":null}