{"orpha":2204,"name":"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Kozlowski-Tsuruta syndrome"],"definition":"A form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2204/","orphanet_url":"https://www.orpha.net/en/disease/detail/2204","names":{"fr":{"name":"Hyperostose corticale dysplasique type Kozlowski-Tsuruta","synonyms":["Syndrome de Kozlowski-Tsuruta"],"definition":"Forme rare d'hyperostose corticale dysplasique caractérisée par un thorax étroit, des membres courts et un épaississement cortical généralisé et symétrique de l'ensemble du squelette, en particulier des os longs et des côtes. D'autres caractéristiques peuvent inclure une sclérose des métacarpiens et des métatarsiens avec un rétrécissement de la partie proximale et une légère sclérose du bassin. Aucun épaississement cortical du crâne ou de la mandibule n'est décrit. La taille des mains et des pieds est normale. Une microcéphalie, une segmentation anormale des poumons, une hépatosplénomégalie, des sillons cérébraux peu développés et une duplication rénale complète ont été observés. Il s'agit d'une pathologie létale associée à une anasarque foetale sévère et à un polyhydramnios."},"de":{"name":"Dysplastische kortikale Hyperostose Typ Kozlowski-Tsuruta","synonyms":["Kozlowski-Tsuruta-Syndrom"],"definition":"Eine Form der seltenen dysplastischen kortikalen Hyperostose, die durch einen schmalen Brustkorb und kurze Gliedmaßen mit einer generalisierten, symmetrischen kortikalen Verdickung im gesamten Skelett, insbesondere in den langen Knochen und Rippen, gekennzeichnet ist. Weitere Merkmale können sklerotische Mittelhandknochen und Mittelfußknochen mit proximaler Verjüngung und leichter Sklerose des Beckens sein. Am Schädel oder Unterkiefer wurde keine Kortikalisverdickung festgestellt. Die Größe der Hände und Füße ist normal. Es wurden Mikrozephalie, abnorme Lungensegmente, Hepatosplenomegalie, schlecht entwickelte zerebrale Sulci und eine vollständige Nierenduplikation beobachtet. Es handelt sich um eine letale Erkrankung, die mit schwerem fetalem Hydrops und Polyhydramnion einhergeht."},"es":{"name":"Hiperostosis cortical displásica tipo Kozlowski-Tsuruta","synonyms":["Síndrome de Kozlowski-Tsuruta"],"definition":"Es una forma poco frecuente de hiperostosis cortical displásica, caracterizada por tórax angosto, acortamiento de las extremidades con engrosamiento cortical generalizado y simétrico en todo el esqueleto, especialmente en los huesos largos y las costillas. Otras características pueden incluir metacarpianos y metatarsianos escleróticos con estrechamiento proximal y esclerosis leve de la pelvis. No se ha descrito engrosamiento cortical del cráneo ni de la mandíbula. El tamaño de las manos y de los pies es normal. En algunos pacientes se observa microcefalia, segmentación pulmonar anómala, hepatoesplenomegalia, surcos cerebrales poco desarrollados y duplicación renal completa. Es una afección mortal asociada a hidropesía fetal grave y polihidramnios."},"it":{"name":"Iperostosi corticale displastica, tipo Kozlowski-Tsuruta","synonyms":["Sindrome di Kozlowski-Tsuruta"],"definition":"L'iperostosi corticale displastica è una displasia scheletrica primitiva molto rara, associata ad un aumento della densità ossea, caratterizzata da nanismo neonatale letale con idrope, torace stretto e arti corti con ispessimento corticale diffuso di tutte le ossa lunghe, delle costole, delle clavicole e delle scapole, e schisi coronali nei corpi vertebrali."},"nl":{"name":"Dysplastische corticale hyperostose, Kozlowski-Tsuruta-type","synonyms":["Syndroom van Kozlowski-Tsuruta"],"definition":"Een vorm van zeldzame dysplastische corticale hyperostose, gekenmerkt door een smalle borstkas, korte ledematen met gegeneraliseerde, symmetrische corticale verdikking doorheen het skelet, vooral in pijpbeenderen en ribben. Mogelijke bijkomende kenmerken zijn onder meer sclerotische metacarpalen en metatarsalen met proximaal een abnormaal spits toelopende vorm, en milde sclerose van het bekken. Er werd geen corticale verdikking gerapporteerd in de schedel of de onderkaak. Handen en voeten hebben een normale grootte. Microcefalie, abnormale segmentatie van de longen, hepatosplenomegalie, ondermaats ontwikkelde cerebrale sulci en volledige duplicatie van nier werden waargenomen. Het is dodelijke aandoening geassocieerd met ernstige hydrops foetalis en polyhydramnion."},"pt":{"name":"Hiperostose cortical displásica, tipo Kozlowski-Tsuruta","synonyms":["Síndrome Kozlowski-Tsuruta"]},"pl":{"name":"Dysplastyczna hiperostoza korowa typu Kozłowskiego i Tsuruta","synonyms":["Zespół Kozlowskiego i Tsuruta"],"definition":"Postać rzadkiej dysplastycznej hiperostozy korowej, która charakteryzuje się wąską klatką piersiową, krótkimi kończynami z uogólnionym, symetrycznym pogrubieniem warstwy korowej w kościach całego układu szkieletowego, szczególnie w kościach długich i żebrach. Dodatkowe cechy mogą obejmować sklerotyczne kości śródręcza i śródstopia z proksymalnym zwężeniem i łagodnym stwardnieniem kości miednicy. Nie odnotowano pogrubienia warstwy korowej kości czaszki oraz żuchwy. Rozmiar dłoni i stóp jest prawidłowy. Zgłaszano małogłowie, nieprawidłową segmentację płuc, hepatosplenomegalię, słabo rozwinięte bruzdy mózgowe i całkowite zdwojenie nerek. Jest to schorzenie o śmiertelnym przebiegu związane z ciężkim obrzękiem płodu i wielowodziem."},"cs":{"name":"Dysplastická kortikální hyperostóza, typ Kozlowski-Tsuruta","synonyms":["Kozlowského-Tsurutův syndrom","Kozlowski-Tsurutův syndrom"]},"uk":{"name":"Диспластичний кортикальний гіперостоз, тип Козловського-Цурути","synonyms":["Синдром Козловського-Цурути"],"definition":"Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies."},"zh":{"name":"皮质发育不全性骨肥厚","synonyms":["Kozlowski-Tsuruta 综合征"]},"tr":{"name":"Displastik kortikal hiperostoz","synonyms":["Kozlowski-Tsuruta sendromu"]}},"xrefs":[{"source":"ICD-10","code":"M85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0100527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5780027","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":646139,"name":"Dysplastic cortical hyperostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"12401992[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12401992[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002813","label":"Abnormality of limb bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001789","label":"Hydrops fetalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}