{"orpha":3262,"name":"Dobrow syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Syngnathia-multiple anomalies syndrome"],"definition":"A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3262/","orphanet_url":"https://www.orpha.net/en/disease/detail/3262","names":{"fr":{"name":"Syndrome de Dobrow","synonyms":["Syndrome de syngnathie-anomalies multiples"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une syngnathie osseuse de degrés variables associée à d'autres anomalies qui sont inconstantes, telles qu'un retard de croissance, une déficience intellectuelle, une microcéphalie, un colobome de l'iris, un nystagmus, une surdité et des anomalies de segmentation vertébrale, ainsi que par des malformations génitales, des membres et d'autres malformations faciales, entre autres."},"de":{"name":"Dobrow-Syndrom","synonyms":["Syngnathie-multiple Anomalien-Syndrom"]},"es":{"name":"Síndrome de Dobrow","synonyms":["Síndrome de singnatia-anomalías múltiples"],"definition":"El síndrome de Dobrow es un síndrome dismórfico poco frecuente por múltiples malformaciones congénitas caracterizado por grados variables de signatia ósea asociada a anomalías adicionales variables, que incluyen, entre otras, retraso en el crecimiento, discapacidad intelectual, microcefalia, coloboma del iris, nistagmo, sordera y defectos de segmentación vertebral, así como malformaciones genitales, de extremidades y faciales."},"it":{"name":"Sindrome di Dobrow","synonyms":["Sindrome singnazia - anomalie multiple"],"definition":"La sindrome di Dobrow è una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da singnazia ossea di gravità variabile, associata ad altre anomalie, che comprendono il ritardo della crescita, la disabilità intellettiva, la microcefalia, il coloboma dell'iride, il nistagmo, la sordità, i difetti della segmentazione delle vertebre, le malformazioni dei genitali, degli arti e del viso."},"nl":{"name":"Syndroom van Dobrow","synonyms":["Syngnathie - meervoudige anomalieën-syndroom"],"definition":"Syndroom van Dobrow is een zeldzaam meervoudige congenitale defecten/dysmorfie-syndroom dat gekarakteriseerd wordt door variabele gradaties van benige syngnathie geassocieerd met wisselende bijkomende afwijkingen, waaronder groeiretardatie, intellectuele achterstand, microcefalie, iriscoloboom, nystagmus, doofheid, en vertebrale segmentatiedefecten, alsook malformaties van onder andere de genitaliën, ledematen en het gelaat."},"pt":{"name":"Síndrome Dobrow","synonyms":["Síndrome de singnatia-anomalias múltiplas"]},"pl":{"name":"Syngnathia multiple anomalies","synonyms":["Syngnathia-multiple anomalies syndrome"],"definition":"*Zespół Dobrowa jest rzadkim, wrodzonym zespołem mnogich wad/zespołem dysmorficznym, który charakteryzuje się nitkowatymi zrostami szczęki i żuchwy (syngnatia), którym towarzyszą różne dodatkowe nieprawidłowości, takie jak opóźnienie wzrastania, niepełnosprawność intelektualna, małogłowie, koloboma (szczelina) tęczówki, oczopląs, niedosłuch i wady segmentacji kręgów, a także wady narządów płciowych, kończyn i inne wady rozwojowe twarzy."},"cs":{"name":"Syngnathia s mnohočetnými anomáliemi","synonyms":["Syngnathia-multiple anomalies syndrome"]},"uk":{"name":"Синдром Доброва","synonyms":["Синдром синдрому множинних аномалій"],"definition":"A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others."},"zh":{"name":"Dobrow综合征","synonyms":["连颌畸形-多发异常综合征"]},"tr":{"name":"Dobrow sendromu","synonyms":["Singnati-çoklu anomaliler sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017980","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190737","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5092","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6580396[PMID]_15365455[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6580396[PMID]_15365455[PMID]"}],"phenotypes":null}