{"orpha":93315,"name":"Spondylometaphyseal dysplasia, 'corner fracture' type","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondylometaphyseal dysplasia, Sutcliffe type"],"definition":"Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93315/","orphanet_url":"https://www.orpha.net/en/disease/detail/93315","names":{"fr":{"name":"Dysplasie spondylo-métaphysaire type fracture en coins","synonyms":["Dysplasie spondylo-métaphysaire type Sutcliffe"],"definition":"La dysplasie spondylo-métaphysaire type 'corner fracture' est une dysplasie squelettique associée à une petite taille, une coxa vara congénitale, une déformation progressive de la hanche, des fractures des os longs tubulaires de type 'fracture en coin et des anomalies des corps vertébraux (généralement ovales)."},"de":{"name":"Dysplasie, spondylometaphysäre, Corner-fracture-Typ","synonyms":["Dysplasie, spondylometaphysäre, Typ Sutcliffe"]},"es":{"name":"Displasia espondilometafisaria tipo fracturas 'en esquina'","synonyms":["Displasia espondilometafisaria tipo Sutcliffe"],"definition":"Es una displasia esquelética asociada a talla baja, coxa vara del desarrollo, deformidad progresiva de la cadera, 'fracturas en esquina' simuladas de huesos tubulares largos y anomalías del cuerpo vertebral (principalmente cuerpos vertebrales ovalados)."},"it":{"name":"Displasia spondilometafisaria, tipo frattura angolata","synonyms":["Displasia spondilometafisaria, tipo Sutcliffe"]},"nl":{"name":"Spondylometafysaire dysplasie, hoekfractuur-type","synonyms":["Spondylometafysaire dysplasie, Sutcliffe-type"],"definition":"Spondylometafysaire dysplasie, hoekfractuur-type is een skeletdysplasie geassocieerd met kleine gestalte, congenitale coxa vara, progressieve deformiteit van heup, fracturen van pijpbeenderen van het hoekfractuur-type, en anomalieën van wervellichamen (meestal ovale wervellichamen)."},"pt":{"name":"Displasia espondilometafisária, tipo 'fratura de esquina'"},"pl":{"name":"Dysplazja kręgosłupowo-przynasadowa typu 'corner fracture'","synonyms":["Dysplazja kręgosłupowo-przynasadowa typu Sutcliffe'a"]},"cs":{"name":"Spondylometafyzární dysplázie, typ s okrajovými fragmenty metafyzárních zlomenin","synonyms":["Spondylometafyzární dysplázie, Sutcliffův typ"]},"uk":{"name":"Спондилометафізарна дисплазія, тип кутового перелому","synonyms":["Спондилометафізарна дисплазія, тип Саткліффа"],"definition":"Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)."},"zh":{"name":"脊椎干骺端发育不良，弯角骨折型","synonyms":["脊椎干骺端结构不良，Sutcliffe型"],"definition":"“成角骨折”型脊椎干骺端发育不良是一种骨骼发育不良，伴有身材矮小、发育性髋内翻、进行性髋关节畸形、类似“角骨折”的长管状骨和椎体畸形（多为椭圆形椎体）。"},"tr":{"name":"Spondilometafizyal displazi, 'köşe kırığı' tipi","synonyms":["Spondilometafizyal displazi, Sutcliffe tipi"]}},"xrefs":[{"source":"OMIM","code":"184255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.4","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1295452752"},{"source":"MONDO","code":"0008479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535793","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432221","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4991","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]},{"orpha":93421,"name":"Type 2 collagen-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"COL2A1","name":"collagen type II alpha 1 chain","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"17163530[PMID]","hgnc":"2200","ensembl":"ENSG00000139219","omim":"120140","loci":["12q13.11"]},{"symbol":"FN1","name":"fibronectin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100092[PMID]","hgnc":"3778","ensembl":"ENSG00000115414","omim":"135600","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29100092[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-08-20","source":"29100092[PMID]_32200603[PMID]","terms":[{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003908","label":"Corner fracture of metaphysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003300","label":"Ovoid vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001376","label":"Limitation of joint mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006385","label":"Short lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009824","label":"Upper limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004586","label":"Biconcave vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004625","label":"Biconvex vertebral bodies","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002945","label":"Intervertebral space narrowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002938","label":"Lumbar hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008577","label":"Underfolded helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008417","label":"Vertebral hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008422","label":"Vertebral wedging","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031427","label":"Abnormal circulating osteocalcin level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008440","label":"C1-C2 vertebral abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002866","label":"Hypoplastic iliac wing","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032208","label":"Increased urinary type 1 collagen N-terminal telopeptide level","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001891","label":"Iron deficiency anemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007906","label":"Ocular hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very rare (<4-1%)","criteria":null}]}}