{"orpha":2900,"name":"Leri pleonosteosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2900/","orphanet_url":"https://www.orpha.net/en/disease/detail/2900","names":{"fr":{"name":"Pléonostéose","definition":"La pléonostéose de Léri est caractérisée par un élargissement et une malformation en valgus des pouces et des gros orteils (apparence en forme de bêche), une contracture en flexion des articulations interphalangiennes, une limitation généralisée de la mobilité articulaire, une petite taille et souvent un faciès mongoloïde. Les autres malformations sont un genu recurvatum, un élargissement des arcs neuraux postérieurs des vertèbres cervicales, et un épaississement en forme de bande de la paume et de l'avant-bras. Quelques familles atteintes sur plusieurs générations ont été rapportées jusqu'ici. La transmission est autosomique dominante."},"de":{"name":"Pleonosteose Leri","definition":"ANPM"},"es":{"name":"Pleonosteosis","definition":"La pleonosteosis se caracteriza por: pulgares anchos y deformes y hallux valgus (o «juanete»), contractura en flexión de las articulaciones interfalángicas, limitaciones generalizadas en la movilidad de las articulaciones, estatura baja y en muchas ocasiones, facies mongoloides. Otras malformaciones adicionales son: genu recurvatum, arcos neurales posteriores de las vértebras cervicales y engrosamiento de la fascia palmar y antebraquial. Hasta el momento se han descrito algunas familias multigeneracionales. La enfermedad se hereda de manera autosómica dominante."},"it":{"name":"Pleonostosi di Léri"},"nl":{"name":"Pleonosteose van Leri","definition":"Pleonosteose van Leri wordt gekenmerkt door verbreding en misvorming van duim en hallux in een valgus positie ('spade-vormig' uitzicht), flexiecontractuur van interfalangeale gewrichten, gegeneraliseerde beperking van gewrichtsmobiliteit, kleine gestalte, en vaak mongoloïd aangezicht. Bijkomende malformaties zijn onder meer genu recurvatum, vergroting van posterieure wervelbogen van cervicale wervels, en verdikking van fascie (spiervlies) van handpalm en onderarm. Tot op heden werden enkele families met meerdere generaties gerapporteerd. De aandoening wordt op een autosomaal dominante manier overgeërfd."},"pt":{"name":"Pleonoesteose de Leri"},"pl":{"name":"pleonosteoza Lériego (nadmierne kostnienie kości)"},"cs":{"name":"Leriho pleonosteóza"},"uk":{"name":"Плеоностеоз Лері","definition":"Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner."},"zh":{"name":"LERI氏过早骨化症"},"tr":{"name":"Leri pleonosteoz"}},"xrefs":[{"source":"OMIM","code":"151200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q68.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007894","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537118","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835450","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"88","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93459,"name":"Syndrome with synostosis or other joint formation defect","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-25","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002816","label":"Genu recurvatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100679","label":"Lack of skin elasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100795","label":"Abnormally straight spine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}