{"orpha":363972,"name":"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CBL syndrome","Noonan syndrome-like disorder with JMML"],"definition":"A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-363972/","orphanet_url":"https://www.orpha.net/en/disease/detail/363972","names":{"fr":{"name":"Syndrome Noonan-like avec leucémie myélomonocytaire juvénile","synonyms":["Syndrome CBL"],"definition":"Syndrome polymalformatif rare d'origine génétique, caractérisé par un phénotype de type Noonan associé à un risque accru de développer une leucémie myélomonocytaire juvénile (LMJ). Le phénotype de type Noonan (SN) comprend des caractéristiques faciales dysmorphiques (front haut, hypertélorisme, fentes palpébrales inclinées vers le bas, ptosis, oreilles décollées, philtrum proéminent et cou court avec ou sans ptérygium colli), un retard de développement, une hypotonie et un petit périmètre crânien. Il peut être associé à des anomalies cardiaques congénitales ou à une cardiomyopathie, à des anomalies ectodermiques et à une petite taille. Le phénotype SN est subtil ou même inapparent chez une grande partie des sujets, mais peut parfois être sévère. La leucémie peut être la seule manifestation clinique du syndrome."},"de":{"name":"Noonan-ähnliches Syndrom mit juveniler myelomonozytischer Leukämie","synonyms":["CBL-Syndrom","Noonan-ähnliches Syndrom mit JMML"],"definition":"Ein genetisch bedingtes polymalformatives Syndrom, das durch einen Noonan-ähnlichen Phänotyp gekennzeichnet ist und mit einem erhöhten Risiko für die Entwicklung einer juvenilen myelomonozytären Leukämie (JMML) einhergeht. Der Noonan-ähnliche (NS) Phänotyp umfasst Gesichtsdysmorphien (d. h. hohe Stirn, Hypertelorismus, schräg abwärts verlaufende Lidspalten, Ptosis, tief angesetzte Ohren, ausgeprägtes Philtrum und kurzer Hals mit oder ohne Pterygium colli), Entwicklungsverzögerung, Hypotonie und kleinen Kopfumfang. Es kann mit kongenitalen Herzfehlern oder Kardiomyopathie, ektodermalen Anomalien und Kleinwuchs einhergehen. Der NS-Phänotyp ist bei einem großen Teil der Betroffenen unauffällig oder sogar inapparent, kann aber gelegentlich auch schwerwiegend sein. Leukämie kann die einzige klinische Manifestation des Syndroms sein."},"es":{"name":"Trastorno similar al síndrome de Noonan con leucemia mielomonocítica juvenil","synonyms":["Síndrome CBL","Trastorno de síndrome de Noonan-like con leucemia mielomonocítica juvenil","Trastorno similar al síndrome de Noonan con LMMJ"],"definition":"En un síndrome polimalformativo genético poco frecuente caracterizado por un fenotipo similar a Noonan asociado con un mayor riesgo de desarrollar leucemia mielomonocítica juvenil (LMMJ). El fenotipo similar a Noonan (NS) incluye rasgos faciales dismórficos (es decir, frente alta, hipertelorismo, fisuras palpebrales de orientación desdendente, ptosis, orejas de implantación baja, filtro prominente y cuello corto con o sin pterigion colli), retraso del desarrollo, hipotonía y perímetro cefálico reducido. Puede asociarse a defectos cardíacos congénitos o miocardiopatía, anomalías ectodérmicas y talla baja. El fenotipo NS es sutil o incluso no aparente en una gran proporción de pacientes, pero en ocasiones puede ser grave. La leucemia puede ser la única manifestación clínica del síndrome."},"it":{"name":"Sindrome Noonan-simile con leucemia mielomonocitica giovanile","synonyms":["Disturbo sindrome di Noonan-simile con JMML","Sindrome CBL"],"definition":"Si tratta di una sindrome polimalformativa genetica rara, caratterizzata da un fenotipo simil-Noonan associato a una predisposizione alla leucemia mielomonocitica giovanile (JMML). Il quadro clinico, che ricorda la sindrome di Noonan (NS), comprende i dismorfismi facciali (fronte alta, ipertelorismo, rime palpebrali oblique verso il basso, ptosi, orecchie a basso impianto, filtro prominente e collo corto, con o senza pterigio), il ritardo dello sviluppo, l'ipotonia e la circonferenza cranica ridotta. Può associarsi a cardiopatie congenite o cardiomiopatia, ad anomalie ectodermiche e a bassa statura. Nella maggior parte dei pazienti, il fenotipo simil-Noonan è sfumato o passa inosservato, ma in alcuni può essere grave. La leucemia può essere l'unico segno clinico della malattia."},"nl":{"name":"Syndroom van Noonan-achtige aandoening met juveniele myelomonocytaire leukemie","synonyms":["CBL-syndroom","Syndroom van Noonan-achtige aandoening met JMML"],"definition":"Een zeldzaam, genetisch polymalformatief syndroom, gekarakteriseerd door een Noonan-achtig fenotype geassocieerd met verhoogd risico op ontwikkeling van juveniele myelomonocytaire leukemie (JMML). Noonan-achtig (NS) fenotype omvat dysmorfe gelaatskenmerken (i.e. hoog voorhoofd, hypertelorisme, schuin naar beneden hellende ooglidspleten, ptose, laagstaande oren, prominent filtrum en korte nek met of zonder pterygium colli), ontwikkelingsachterstand, hypotonie, en kleine hoofdomtrek. Het kan geassocieerd zijn met congenitale hartdefecten of cardiomyopathie, ectodermale anomalieën, en kleine gestalte. NS-fenotype is subtiel of zelfs subklinisch bij een groot deel van de patiënten, maar kan occasioneel ernstig zijn. Mogelijk is leukemie de enige klinische manifestatie van het syndroom."},"pt":{"name":"Doença semelhante ao síndrome de Noonan com leucemia mielonocítica juvenil"},"pl":{"name":"Zaburzenie podobne do zespołu Noonan z młodzieńczą białaczką mielomonocytarną","synonyms":["CBL syndrome","Zaburzenie podobne do zespołu Noonan z JMML"],"definition":"*Zaburzenie podobne do zespołu Noonan z młodzieńczą białaczką mielomonocytarną jest rzadkim, genetycznie uwarunkowanym zespołem licznych malformacji ze zwiększonym ryzykiem zachorowania na chorobę nowotworową. Fenotyp jest podobny do obserwowanego w zespole Noonan: występują typowe dysmorficzne rysy twarzy (wysokie czoło, hiperteloryzm, skośnie ku dołowi ustawione szpary powiekowe, opadanie powiek, nisko osadzone uszy, wydatna rynienka podnosowa i krótka szyja z lub bez płetwistości szyi), wady klatki piersiowej, wrodzone wady serca i niski wzrost, którym bardzo często towarzyszy młodzieńcza białaczka mielomonocytowa. Może również towarzyszyć opóźnienie rozwoju, anomalie ektodermalne, wiotkość stawów i hipotonia.inf brsup"},"cs":{"name":"Syndrom Noonan-like s juvenilní myelomonocytární leukémií","synonyms":["CBL syndrom","Syndrom Noonan-like s JMML"]},"uk":{"name":"Нунан-подібний синдром при ювенільній мієломоноцитарній лейкемії","synonyms":["Синдром ХБР","Синдром, подібний до синдрому Нунана, при ЮММЛ"],"definition":"A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects, but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome."},"zh":{"name":"努南综合征样障碍伴幼年型慢性骨髓单核细胞性白血病","synonyms":["努南综合征样障碍伴JMML"],"definition":"本病是一种罕见的遗传多态性综合症，其特征为Noonan样表型伴有青少年骨髓单核细胞白血病（JMML）发生风险增加。 Noonan样（NS）表型包括畸形的面部特征（即高额头、眼距宽、睑裂下斜、上睑下垂、低位耳、人中突出和短颈伴或不伴蹼颈），发育迟缓，肌张力减退和头围小。它可能与先天性心脏缺陷或心肌病，外胚层异常和身材矮小有关。在大多数患者中，NS表型是轻微的，甚至是不明显的，但有时可能很严重。白血病可能是该综合征的唯一临床表现。"},"tr":{"name":"Juvenil miyelomonositik lösemi ile seyreden Noonan sendromu benzeri bozukluk","synonyms":["CBL sendromu","JMML ile Noonan sendromu benzeri bozukluk"]}},"xrefs":[{"source":"OMIM","code":"613563","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C93.3","qualifier":"BTNT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A42.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013308","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4016301","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98733,"name":"Noonan syndrome and Noonan-related syndrome","classifications":[147,148,156]},{"orpha":183422,"name":"Polymalformative genetic syndrome with increased risk of developing cancer","classifications":[156,202]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"CBL","name":"Cbl proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20543203[PMID]_20619386[PMID]","hgnc":"1541","ensembl":"ENSG00000110395","omim":"165360","loci":["11q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}