{"orpha":324307,"name":"Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324307/","orphanet_url":"https://www.orpha.net/en/disease/detail/324307","names":{"fr":{"name":"Syndrome d'incurvation latérale sévère du tibia-petite taille-omoplate ailée modérée-dysmorphie faciale modérée","definition":"Dysplasie osseuse primaire rare d'origine génétique caractérisée par une importante courbure uni-/bilatérale à convexité latérale du tibia, localisée aux deux tiers de la partie distale du tibia, avec, respectivement, un épaississement et un amincissement de la corticale de la courbure interne et externe du tibia, une perte osseuse trabéculaire normale, des anomalies bilatérales des épiphyses tibiales et des plaques de croissance, ainsi que des anomalies du pied, y compris des voûtes plantaires anormalement hautes. Les personnes atteintes sont de petite taille et ne présentent pas d'autres anomalies squelettiques."},"de":{"name":"Schwere laterale Tibiaverkrümmung-Kleinwuchs-milde Scapula alata-Gesichtsdysmorphie-Syndrom","definition":"Eine seltene, genetisch bedingte primäre Knochendysplasie, die durch eine signifikante, ein- oder beidseitige laterale Tibiaverkrümmung gekennzeichnet ist, die in den distalen zwei Dritteln der Tibia lokalisiert ist. Es zeigt sich eine entsprechende kortikale Verdickung und Ausdünnung der inneren und äußeren Tibiakurve, Verlust des normalen trabekulären Knochens und beidseitigen Anomalien der Tibiaepiphysen und Wachstumsplatten. Ebenfalls assoziiert sind Fußanomalien (einschließlich abnorm hoher Fußgewölbe). Betroffene Personen sind kleinwüchsig und weisen keine weiteren Skelettanomalien auf."},"es":{"name":"Síndrome de incurvación tibial lateral grave-talla baja-escápula alada leve-dismorfia facial leve","definition":"Es una displasia primaria poco frecuente con huesos curvos. Está caracterizada por una curvatura tibial lateral uni-/bilateral significativa localizada en los dos tercios distales de la tibia, con el respectivo engrosamiento cortical y adelgazamiento de la curvatura tibial interna y externa, pérdida de hueso trabecular normal, anomalías bilaterales de las epífisis tibiales y placas de crecimiento, así como anomalías en los pies, incluyendo arcos inusualmente altos. Los individuos afectados presentan talla baja en ausencia de otras anomalías esqueléticas."},"it":{"name":"Sindrome da grave incurvamento laterale della tibia-bassa statura-scapole lievemente alate-dismorfismi facciali sfumati","definition":"Il grave incurvamento laterale della tibia con bassa statura è una displasia scheletrica primitiva rara, di origine genetica, con incurvatura delle ossa, caratterizzata dalla marcata incurvatura laterale, mono- o bi-laterale, della tibia, localizzata nei due terzi distali, con ispessimento corticale della curva tibiale interna e assottigliamento corticale della curva tibiale esterna, perdita della normale trabecolatura dell'osso, anomalie bilaterali delle epifisi tibiali e delle placche di crescita e anomalie dei piedi, con arcate plantari eccessivamente alte. I pazienti presentano bassa statura in assenza di altre anomalie scheletriche."},"nl":{"name":"Ernstige laterale tibiale kromming - kleine gestalte - milde scapula alata - milde faciale dysmorfie-syndroom","synonyms":["Ernstige laterale kromstand van scheenbeen - kleine gestalte - mild afstaand schouderblad - milde faciale dysmorfie-syndroom"],"definition":"Ernstige laterale tibiale kromming met kleine gestalte is een zeldzame, genetische, primaire gebogen botdysplasie die gekarakteriseerd wordt door significante, uni-/bilaterale, laterale tibiale kromming gesitueerd in het distale tweederde deel van het scheenbeen, met respectievelijk corticale verdikking en verdunning van de binnenste en buitenste tibiale curve, verlies van normaal trabeculair bot, bilaterale afwijkingen van de tibiale epifyses en groeischijven, alsook voetafwijkingen, waaronder abnormaal hoge voetbogen. Getroffen individuen hebben een kleine gestalte maar geen andere skeletafwijkingen."},"pt":{"name":"Síndrome de encurvamento lateral grave das tíbias-baixa estatura-escápula alada grau ligeiro-dismorfia facial ligeira"},"pl":{"name":"Ciężkie boczne wygięcie kości piszczelowej z niskim wzrostem","synonyms":["Ciężkie boczne wygięcie kości piszczelowej-niski wzrost-łagodnie odstająca łopatka-łagodna dysmorfia twarzy"]},"cs":{"name":"Syndrom zahrnující těžké laterální prohnutí holenní kosti, nízký vzrůst, mírně odstávající lopatku a mírnou faciální dysmorfii"},"uk":{"name":"Синдром вираженого бічного викривлення великогомілкової кістки-низькорослості-мягко вираженої крилоподібної лопатки-легкого дисморфізму обличчя","definition":"Severe lateral tibial bowing with short stature is a rare, genetic, primary bent bone dysplasia characterized by significant, uni-/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities."},"zh":{"name":"重型胫骨外侧弯曲伴身材矮小","definition":"重度胫骨外侧弯曲伴身材矮小是一种罕见的遗传性原发性骨弯曲发育不良，其特征是单/双侧胫骨远端三分之二处外侧显著弯曲，相应的皮质增厚和胫骨内外曲变薄，正常小梁骨缺失，双侧胫骨骨骺和生长板异常，以及足部异常，包括高足弓异常。患者通常身材矮小，但不伴其他骨骼异常。"},"tr":{"name":"Kısa boy ile seyreden ağır lateral tibial eğilme"}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.C","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C4707850","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93439,"name":"Campomelic dysplasia and related disorders","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22927185[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}