{"orpha":603689,"name":"KLHL7-related Bohring-Opitz-like syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["KLHL7-related BOS-like syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-603689/","orphanet_url":"https://www.orpha.net/en/disease/detail/603689","names":{"fr":{"name":"Syndrome de Bohring-Opitz-like associé à KLHL7","synonyms":["Syndrome de BOS-like associé à KLHL7"],"definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par la présence de plusieurs manifestations cliniques types du syndrome de Bohring-Opitz, telles qu'un retard de croissance intra-utérin, une dysmorphie faciale, une microcéphalie, de grandes difficultés à s'alimenter, des contractures articulaires, une déficience intellectuelle et une posture caractéristique des membres supérieurs. À l'inverse, les cas de trigonocéphalie, de synophridie, de forte myopie et de vomissements cycliques sont très rares."},"de":{"name":"Bohring-Opitz-ähnliches Syndrom, KLHL7-assoziiertes","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch mehrere der typischen klinischen Merkmale des Bohring-Opitz-Syndroms gekennzeichnet ist, wie intrauterine Wachstumsretardierung, Gesichtsdysmorphien, Mikrozephalie, schwerwiegende Fütterungsprobleme, Gelenkkontrakturen, Intelligenzminderung und eine BOS-ähnliche Haltung der oberen Gliedmaßen. Trigonozephalie, Synophrie, hohe Myopie und zyklisches Erbrechen sind dagegen sehr selten beschrieben."},"es":{"name":"Síndrome similar a Bohring-Opitz asociado a KLHL7","synonyms":["Síndrome de Bohring-Opitz-like asociado a KLHL7"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por varios de los rasgos clínicos típicos del síndrome de Bohring-Opitz (BOS), como retraso del crecimiento intrauterino, dismorfia facial, microcefalia, dificultades graves para alimentarse, contracturas articulares, discapacidad intelectual y una postura de los miembros superiores similar a la del BOS. Por el contrario, la trigonocefalia, la sinofridia, la alta miopía y la emesis cíclica se describen muy raramente."},"it":{"name":"Sindrome simil-Bohring-Opitz correlata a KLHL7","synonyms":["Sindrome simil-BOS correlata a KLHL7"]},"nl":{"name":"KLHL7-gerelateerd Bohring-Opitz-achtig syndroom","synonyms":["KLHL7-gerelateerd BOS-achtig syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door meerdere typische klinische kenmerken van syndroom van Bohring-Opitz, zoals intra-uteriene groeiretardatie, faciale dysmorfie, microcefalie, ernstige voedingsproblemen, gewrichtscontracturen, intellectuele achterstand en BOS-achtige houding van bovenste ledematen. Trigonocefalie, synophrys, hoge myopie en cyclisch braken worden daarentegen maar zelden beschreven."},"pt":{"name":"Síndrome Bohring-Opitz-like KLHL7-relacionado","synonyms":["Síndrome BOS-like KLHL7-relacionado"],"definition":"Síndrome rara de anomalias congénitas múltiplas caracterizada por várias das características clínicas típicas da síndrome Bohring-Opitz, como atraso de crescimento intrauterino, dismorfia facial, microcefalia, dificuldades graves de alimentação, contraturas articulares, perturbação do desenvolvimento intelectual e postura semelhante a BOS nos membros superiores. Trignocefalia, sinofris, miopia grave e emése cíclica são, pelo contrário, muito raramente descritas."},"pl":{"name":"Zależny od KLHL7 zespół podobny do Bohring-Opitz","synonyms":["KLHL7-related BOS-like syndrome"],"definition":"Rzadki zespół wielu wad wrodzonych, który charakteryzuje się kilkoma typowymi cechami klinicznymi zespołu Bohringa-Opitza, takimi jak opóźnienie wzrostu wewnątrzmacicznego, dysmorfia twarzy, małogłowie, poważne trudności w karmieniu, przykurcze stawów, niepełnosprawność intelektualna i ułożenie kończyn górnych jak w zespole BOS. Bardzo rzadko natomiast opisywano trygonocefalię, synophrys (zrośnięcie brwi), wysoką krótkowzroczność i cykliczne wymioty."},"cs":{"name":"Syndrom podobný Bohring-Opitzovu syndromu související s KLHL7","synonyms":["KLHL7-related BOS-like syndrome"]},"uk":{"name":"KLHL7-повязаний синдром, подібний до Борінга-Опітца","synonyms":["KLHL7-асоційований BOS-подібний синдром"],"definition":"A rare multiple congenital anomalies syndrome characterized by several of the typical clinical features of Bohring-Opitz syndrome, like intrauterine growth retardation, facial dysmorphism, microcephaly, severe feeding difficulties, joint contractures, intellectual disability and a BOS-like posture of upper limbs. Trigonocephaly, synophrys, high myopia and cyclic emesis are, on the contrary, very rarely described."},"tr":{"name":"KLHL7-related Bohring-Opitz-like syndrome","synonyms":["KLHL7-related BOS-like syndrome"]}},"xrefs":[{"source":"OMIM","code":"617055","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035823","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680210","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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]},{"orpha":603699,"name":"Recessive KLHL7-related disorder","classifications":[156,181]}],"children":[],"genes":[{"symbol":"KLHL7","name":"kelch like family member 7","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29074562[PMID]","hgnc":"15646","ensembl":"ENSG00000122550","omim":"611119","loci":["7p15.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"29074562[PMID]_31953236[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"29074562[PMID]_31953236[PMID]_ORPHANET"}],"phenotypes":null}