{"orpha":1937,"name":"Eng-Strom syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Short stature-locking fingers syndrome"],"definition":"A rare malformation syndrome with short stature characterized by intrauterine growth retardation and intermittent locking of the finger joints. Ventricular septal defect can also be present. There have been no further descriptions in the literature since 1987.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1937/","orphanet_url":"https://www.orpha.net/en/disease/detail/1937","names":{"fr":{"name":"Syndrome d'Eng-Strom","synonyms":["Syndrome de nanisme-doigts bloqués"],"definition":"Syndrome malformatif rare avec petite taille caractérisé par un retard de croissance intra-utérin et un blocage intermittent des articulations des doigts. Une communication interventriculaire peut également être présente. Aucun cas n'a été décrit dans la littérature depuis 1987."},"de":{"name":"Eng-Strom-Syndrom","synonyms":["Kleinwuchs - Fingerklemme"],"definition":"Ein seltenes Fehlbildungssyndrom mit Kleinwuchs, das durch intrauterine Wachstumsverzögerung und intermittierende Fingerklemme gekennzeichnet ist. Auch ein Ventrikelseptumdefekt kann vorhanden sein. Seit 1987 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Eng-Strom","synonyms":["Enanismo-dedos bloqueados"],"definition":"Es un síndrome malformativo poco frecuente con talla baja caracterizado por retraso del crecimiento intrauterino y bloqueo intermitente de las articulaciones de los dedos de las manos. Los pacientes también pueden presentar una comunicación interventricular. No se han descrito más casos en la literatura desde 1987."},"it":{"name":"Sindrome di Eng-Strom","synonyms":["Nanismo - dita bloccate"],"definition":"La sindrome di Eng-Strom è caratterizzata da ritardo di crescita intrauterina e anchilosi intermittente delle articolazioni delle dita delle mani. E' stata descritta in una donna e nella figlia. La trasmissione è autosomica dominante."},"nl":{"name":"Syndroom van Eng-Strom","synonyms":["Kleine gestalte - springvingers-syndroom","kleine gestalte - springvingers"],"definition":"Een zeldzaam malformatiesyndroom met kleine gestalte, gekenmerkt door intra-uteriene groeiretardatie en periodiek blokkeren van de vingergewrichten. Ventrikelseptumdefecten kunnen ook aanwezig zijn. Sinds 1987 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Eng-Strom","synonyms":["Baixa estatura-dedos em gatilho"],"definition":"Síndrome malformativa rara com baixa estatura caracterizada por atraso de crescimento intrauterino e bloqueio intermitente das articulações dos dedos. Defeito do septo ventricular também pode estar presente. Não existem descrições adicionais na literatura desde 1987."},"pl":{"name":"Zespół Enga i Stroma","synonyms":["Short stature - locking fingers"],"definition":"Rzadki zespół wad rozwojowych z niskorosłością, który charakteryzujący się wewnątrzmacicznym zahamowaniem wzrostu i okresowym blokowaniem stawów palców. Może także towarzyszyć ubytek przegrody międzykomorowej. Od 1987 r. nie ma dalszych opisów w literaturze."},"cs":{"name":"Engové-Stromův syndrom","synonyms":["Locking-fingers syndrom s malým vzrůstem","Eng-Stromův syndrom"]},"uk":{"name":"Синдром Енга-Строма","synonyms":["Синдром низького зросту та блокування суглобів пальців"],"definition":"A rare disorder characterized by intrauterine growth retardation and intermittent locking of the finger joints. It has been described in two individuals: a mother and her daughter. The mode of transmission is autosomal dominant."},"zh":{"name":"Eng-Strom综合征","synonyms":["身材矮小-指交锁综合征"]},"tr":{"name":"Eng-Strom sendromu","synonyms":["Kısa boy-kilitli parmak sendromu"]}},"xrefs":[{"source":"OMIM","code":"135950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007618","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3812565[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"3812565[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}