{"orpha":477831,"name":"Kosaki overgrowth syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-477831/","orphanet_url":"https://www.orpha.net/en/disease/detail/477831","names":{"fr":{"name":"Syndrome hypertrophique de Kosaki","synonyms":["Syndrome d'hypercroissance de Kosaki","Syndrome de dysmorphie craniofaciale-hyperélasticité de la peau-lésions de la substance blanche"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique d'origine génétique rare caractérisé par une grande taille à la naissance et de longs pieds et mains, une scoliose, une dysmorphie faciale caractéristique (front proéminent, proptose, fentes palpébrales inclinées vers le bas, pont nasal large, lèvre supérieure mince et menton pointu), une peau hyperélastique, fine et fragile, une lipodystrophie, une déficience intellectuelle variable et une détérioration neurologique. Parmi les autres manifestations rapportées figurent entre autres : craniosynostose, camptodactylie, contractures de flexion évoluant progressivement, dislocation des articulations et complications cérébrovasculaires. L'IRM cérébrale peut révéler des lésions étendues de la substance blanche périventriculaire, ainsi que d'autres anomalies."},"de":{"name":"Kosaki-Großwuchs-Syndrom","synonyms":["Skelettaler Großwuchs-kraniofaziale Dysmorphien-hyperelastische Haut-Läsionen der weissen Substanz-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch postnatale Hochwuchs mit langen Händen und Füßen, Skoliose, ausgeprägte Gesichtsdysmorphien (prominente Stirn, Proptosis, schräg abwärts verlaufende Lidspalten, breiter Nasenrücken, dünne Oberlippe und spitzes Kinn), hyperelastische, dünne und brüchige Haut, Lipodystrophie sowie variable Intelligenzminderung und neurologische Verschlechterung gekennzeichnet ist. Darüber hinaus werden unter anderem Kraniosynostose, Kamptodaktylie, progressive Flexionskontrakturen, Gelenkdislokationen und zerebrovaskuläre Komplikationen berichtet. Die MRT des Gehirns kann ausgedehnte periventrikuläre Läsionen der weißen Substanz und andere Anomalien zeigen."},"es":{"name":"Síndrome de sobrecrecimiento de Kosaki","synonyms":["Síndrome de sobrecrecimiento esquelético-dismorfia craneofacial-piel hiperelástica-lesiones en la sustancia blanca"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por talla alta postnatal con manos y pies largos, escoliosis, rasgos faciales dismórficos distintivos (frente prominente, proptosis, fisuras palpebrales descendentes, puente nasal ancho, labio superior delgado y mentón puntiagudo), piel fina, frágil e hiperelástica, lipodistrofia y discapacidad intelectual variable así como deterioro neurológico. Otras manifestaciones descritas son craneosinostosis, camptodactilia, contracturas en flexión progresivas, luxación articular y complicaciones cerebrovasculares, entre otras. La RM cerebral puede mostrar lesiones extensas de la sustancia blanca periventricular y otras anomalías."},"it":{"name":"Sindrome da iperaccrescimento di Kosaki","synonyms":["Sindrome da iperaccrescimento scheletrico-dismorfismi craniofacciali-iperelasticità cutanea-lesioni della sostanza bianca"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da alta statura postnatale con mani e piedi lunghi, scoliosi, dismorfismi facciali tipici (fronte prominente, proptosi, rime palpebrali oblique verso il basso, sella nasale larga, labbro superiore sottile e mento appuntito), cute iperelastica, sottile e fragile, lipodistrofia, disabilità intellettiva di gravità variabile e deterioramento neurologico. I pazienti possono presentare anche craniosinostosi, camptodattilia, contratture in flessione progressive, dislocazione articolare e complicanze cerebrovascolari. La RMN del cervello evidenzia ampie lesioni della sostanza bianca periventricolare e altre anomalie."},"nl":{"name":"Overgroeisyndroom van Kosaki","synonyms":["Skeletale overgroei - craniofaciale dysmorfie - hyperelastische huid - laesies van witte stof-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door postnatale lange gestalte met lange handen en voeten, scoliose, typische dysmorfe gelaatskenmerken (prominent voorhoofd, proptosis, schuin naar beneden hellende ooglidspleten, brede neusbrug, dunne bovenlip, en puntige kin), hyperelastische, dunne en fragiele huid, lipodystrofie, en variabele intellectuele achterstand en neurologische achteruitgang. Bijkomende manifestaties die werden gerapporteerd, zijn onder meer craniosynostose, camptodactylie, progressieve flexiecontracturen, gewrichtsluxatie, en cerebrovasculaire complicaties. MRI van hersenen toont mogelijk omvangrijke laesies van periventriculaire witte stof en andere anomalieën."},"pt":{"name":"Síndrome de sobrecrescimento Kosaki","synonyms":["Síndrome de sobrecrescimento esquelético-dismorfia craniofacial-hiperelasticidade cutânea-lesões da substância branca"]},"pl":{"name":"Zespół nadmiernego wzrastania, dysmorfii czaszkowo-twarzowej, hiperplastycznej skóry i zmian w istocie białej","synonyms":["Zespół nadmiernego wzrastania Kosakiego","Zespół przerostu Kosaki"]},"cs":{"name":"Syndrom nadměrného růstu kostí, kraniofaciálního dysmorfismu, hyperplastické kůže a lézí bílé hmoty","synonyms":["Kosaki overgrowth syndrome","Kosakiho syndrom přerůstání"]},"uk":{"name":"Синдром надмірного росту Косакі","synonyms":["Синдром скелетного розростання - черепно-лицьового дисморфізму - гіпереластичної шкіри - ураження білої речовини"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by postnatal tall stature with long hands and feet, scoliosis, distinctive dysmorphic facial features (prominent forehead, proptosis, downslanting palpebral fissures, broad nasal bridge, thin upper lip, and pointed chin), hyperelastic, thin, and fragile skin, lipodystrophy, and variable intellectual disability and neurological deterioration. Additional reported manifestations include craniosynostosis, camptodactyly, progressive flexion contractures, joint dislocation, and cerebrovascular complications, among others. Brain MRI may show extensive periventricular white matter lesions and other anomalies."},"zh":{"name":"骨骼过度生长-颅面畸形-皮肤弹性过强-白质病变综合征","synonyms":["Kosaki过度增生综合征"]},"tr":{"name":"İskelet büyümesi-kraniyofasiyal dismorfizm-hiperelastik deri-beyaz madde lezyonları sendromu","synonyms":["Kosaki aşırı büyüme sendromu"]}},"xrefs":[{"source":"OMIM","code":"616592","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014704","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225270","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"PDGFRB","name":"platelet derived growth factor receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25454926[PMID]_26455322[PMID]","hgnc":"8804","ensembl":"ENSG00000113721","omim":"173410","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"25454926[PMID]_26455322[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25454926[PMID]_26455322[PMID]"}],"phenotypes":null}