{"orpha":314002,"name":"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dinno syndrome"],"definition":"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314002/","orphanet_url":"https://www.orpha.net/en/disease/detail/314002","names":{"fr":{"name":"Syndrome de contractures-pterygium colli-micrognathie-mamelons hypoplasiques","synonyms":["Syndrome de Dinno"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une micrognathie, un cou court et palmé, des mamelons hypoplasiques et des contractures articulaires des genoux et des coudes (qui s'améliorent avec le temps). D'autres manifestations peuvent être associées, à savoir des épaules tombantes, une perte auditive légère à modérée, des troubles légers de l'élocution et un faciès typique avec hypertélorisme, un philtrum court et une lèvre supérieure en forme de tente."},"de":{"name":"Kontrakturen-Pterygium colli-Mikrognathie-hypoplastische Mamillen-Syndrom","synonyms":["Dinno-Syndrom"]},"es":{"name":"Síndrome de contracturas-cuello palmeado-micrognatia-pezones hipoplásicos","synonyms":["Síndrome de Dinno"],"definition":"El síndrome de contracturas - cuello palmeado - micrognatia - pezones hipoplásicos es un síndrome dismórfico de múltiples anomalías congénitas muy poco frecuente, caracterizado por micrognacia, cuello corto y alado, pezones hipoplásicos y contracturas articulares (que mejoran con el tiempo) en rodillas y codos. Además, se pueden asociar otras manifestaciones, tales como hombros caídos, pérdida de audición de leve a moderada, deficiencia leve del habla y facies con hipertelorismo, surco nasolabial corto y labio superior en forma de carpa."},"it":{"name":"Sindrome da contratture, collo palmato, micrognazia ed ipoplasia dei capezzoli","synonyms":["Sindrome di Dinno"],"definition":"La sindrome che associa le contratture, il collo palmato, la micrognazia e l'ipoplasia dei capezzoli è una malattia molto rara da anomalie/dismorfismi congeniti multipli, caratterizzata da micrognazia, collo corto e palmato, ipoplasia dei capezzoli e contratture delle articolazioni delle ginocchia e dei gomiti, che migliorano nel tempo. I pazienti possono presentare anche spalle cascanti, sordità lieve-moderata, lieve deficit del linguaggio, facies tipica con ipertelorismo, filtro corto e labbro superiore ''a tenda''."},"nl":{"name":"Contracturen - pterygium colli - micrognatie - hypoplastische tepels-syndroom","synonyms":["Dinnosyndroom"],"definition":"Contracturen - pterygium colli - micrognathie - hypoplastische tepels-syndroom is een uiterst zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door micrognathie, een korte nek met nekplooi, hypoplastische tepels en gewrichtscontracturen (die mettertijd verbeteren) van de knieën en ellebogen. Bijkomend kunnen afhangende schouders, mild tot matig gehoorverlies, milde spraakstoornis en gezicht met hypertelorisme, kort filtrum eb tentvormige bovenlip geassocieerd zijn."},"pt":{"name":"Síndrome de contraturas-pescoço alado-micrognatia-hipoplasia mamilar","synonyms":["Síndrome Dinno"]},"pl":{"name":"Zespół przykurcze-płetwistość szyi-mikrognacja-hipoplastyczne sutki","synonyms":["Zespół Dinno"],"definition":"*Zespół przykurcze-płetwistość szyi-mikrognacja-hipoplastyczne sutki jest niezwykle rzadkim zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się małożuchwiem, krótką, płetwiastą szyją, niedorozwojem sutków i przykurczami stawów kolan i łokci (które z czasem ustępują). Ponadto obserwuje się opadające ramiona, lekki lub umiarkowany niedosłuch, łagodne zaburzenia mowy oraz twarz z hiperteloryzmem, krótką rynienką podnosową i namiotowatą górną wargą."},"cs":{"name":"Syndrom zahrnující kontraktury, pterygium colli, mikrognátii a hypoplastické bradavky","synonyms":["Dinno syndrom"]},"uk":{"name":"Синдром контрактур-крилоподібної шиї-мікрогнатії-гіпопластичних сосків","synonyms":["Синдром Дінно"],"definition":"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by micrognathia, a short, webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated."},"zh":{"name":"挛缩-颈蹼-小颌畸形-乳头发育不全综合征","synonyms":["Dinno综合征"],"definition":"挛缩-蹼状颈-小颌畸形-乳头发育不全综合征是一种极为罕见的多发性先天性畸形综合征，其特征是小颌畸形、短蹼颈、乳头发育不良和膝肘关节挛缩（随时间推移而改善）。此外，也可表现为肩部倾斜、轻度至中度听力损失、轻度语言障碍以及眼距过宽、短人中和帐篷样上唇。"},"tr":{"name":"Kontraktürler-perdeli boyun-mikrognati-hipoplastik meme uçları sendromu","synonyms":["Trizomi 2q23.1"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017788","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751075","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22383252[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}