{"orpha":93357,"name":"SPONASTRIME dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia","Spondyloepimetaphyseal dysplasia, Sponastrime type"],"definition":"A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93357/","orphanet_url":"https://www.orpha.net/en/disease/detail/93357","names":{"fr":{"name":"Dysplasie SPONASTRIME","synonyms":["Dysplasie spondylo-méta-épiphysaire type Sponastrime"],"definition":"Dysplasie spondylo-épimétaphysaire rare d'origine génétique, caractérisée par une petite taille à type de membres inférieurs courts, associée à une dysmorphie faciale caractéristique (macrocéphalie relative, bosses frontales saillantes, hypoplasie de l'étage moyen du visage, pont nasal déprimé, petit nez retroussé, prognathisme) et des anomalies mises en évidence par radiologie, telles que des déformations des corps vertébraux (en particulier dans la région lombaire), des stries métaphysaires, une ostéoporose légère généralisée et un retard d'ossification des os du carpe. Une coxa vara progressive, des racines dentaires courtes, une hypogammaglobulinémie et une cataracte peuvent éventuellement être associées."},"de":{"name":"SPONASTRIME-Dysplasie","synonyms":["Dysplasie, spondyloepimetaphysäre, Typ Sponastrime","Spondyläre und nasale Veränderungen mit Striae der Metaphyse (SPONASTRIME)-Dysplasie"],"definition":"Eine genetisch bedingte spondyloepimetaphysäre Dysplasie, die gekennzeichnet ist durch eine kurzgliedrige Kleinwüchsigkeit (stärker ausgeprägt in den unteren Gliedmaßen) in Verbindung mit charakteristischen Gesichtsdysmorphien (relative Makrozephalie, Balkonstirn, Mittelgesichtshypoplasie, vertiefte Nasenwurzel, kleine Stupsnase, Progenie) und anormalen radiologischen Befunden, inkl. abnorme Wirbelkörper (insbesondere im Lendenbereich), gestreifte Metaphysen, generalisierte leichte Osteoporose und verzögerte Verknöcherung der Handwurzelknochen. Progressive Coxa vara, kurze Zahnwurzeln, Hypogammaglobulinämie und Katarakte können gelegentlich assoziiert sein."},"es":{"name":"Displasia SPONASTRIME","synonyms":["Cambios espondilóticos y nasales con estriaciones de la displasia metafisaria (SPONASTRIME)","Displasia espondilometaepifisaria tipo Sponastrime"],"definition":"Es una displasia espondilometaepifisaria, genética y poco frecuente, caracterizada por talla baja con extremidades cortas (más acentuada en las extremidades inferiores) asociada a dismorfia facial distintiva (relativa macrocefalia, frente prominente, hipoplasia mediofacial, raíz nasal deprimida, nariz pequeña y respingona, prognatismo) y hallazgos radiológicos tales como cuerpos vertebrales anómalos (particularmente en la región lumbar), metáfisis estriadas, leve osteoporosis generalizada y osificación tardía de los huesos del carpo. Ocasionalmente puede asociar coxa vara progresiva, raíces dentales cortas, hipogammaglobulinemia y cataratas."},"it":{"name":"Displasia SPONASTRIME","synonyms":["Displasia spondiloepimetafisaria, tipo Sponastrime","Displasia spondilometaepifisaria, tipo Sponastrime"],"definition":"È una displasia spondiloepimetafisaria genetica rara, caratterizzata da bassa statura con arti corti (soprattutto negli arti inferiori), associata a dismorfismi facciali caratteristici (macrocefalia relativa, fronte bombata, ipoplasia medio-facciale, sella nasale infossata, naso piccolo con punta rivolta verso l'alto, prognatismo). Le radiografie evidenziano anomalie dei corpi vertebrali (in particolare nella regione lombare), metafisi striate, lieve osteoporosi generalizzata e ritardo nell'ossificazione delle ossa carpali. Occasionalmente, può associarsi a coxa vara progressiva, radici dei denti corte, ipogammaglobulinemia e cataratta."},"nl":{"name":"SPONASTRIME-dysplasie","synonyms":["Spondylaire en nasale veranderingen met striae van metafysen (SPONASTRIME)-dysplasie","Spondylo-epimetafysaire dysplasie, Sponastrime-type"],"definition":"Een zeldzame, genetische spondylo-epimetafysaire dysplasie die gekarakteriseerd wordt door kleine gestalte met korte ledematen (meer uitgesproken in de onderste ledematen) geassocieerd met kenmerkende faciale dysmorfie (i.e. relatieve macrocefalie, boller voorhoofd, hypoplasie van het middengezicht, ingezakte neuswortel, kleine wipneus, prognathie) en abnormale radiologische bevindingen, waaronder abnormale wervellichamen (voornamelijk in de lumbale regio), gegroefde metafyses, gegeneraliseerde milde osteoporose, en vertraagde ossificatie van de handwortelbeentjes. Progressieve coxa vara, korte tandwortels, hypogammaglobulinemie en cataracten kunnen occasioneel geassocieerd zijn."},"pt":{"name":"Displasia SPONASTRIME"},"pl":{"name":"Dysplazja SPONASTRIME","synonyms":["Dysplazja kręgowo-nasadowo-przynasadowa, typ Sponastrime"]},"cs":{"name":"SPONASTRIME dysplázie","synonyms":["Spondyloepimetafyzární dysplázie, typ Sponastrime"]},"uk":{"name":"Дисплазія SPONASTRIME","synonyms":["Спондилярні та носові зміни зі смугастою дисплазією метафізів (SPONASTRIME)","Спондилоепіметафізарна дисплазія, тип Sponastrime"],"definition":"A rare, genetic, spondyloepimetaphyseal dysplasia disease characterized by short-limbed short stature (more pronounced in lower limbs) associated with characterisitic facial dysmorphism (i.e. relative macrocephaly, frontal bossing, midface hypoplasia, depressed nasal root, small upturned nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild osteoporosis, and delayed ossification of the carpal bones. Progressive coxa vara, short dental roots, hypogammaglobulinemia and cataracts may be occasionally associated."},"zh":{"name":"Sponastrime型脊椎干骺端发育不全","synonyms":["脊柱和鼻部变化伴干骺端发育不良，Sponastrime型"],"definition":"一种罕见的遗传性脊椎骨骺-干骺端发育不良病，特征是四肢短小所致的身材矮小（下肢更为明显），伴有特征性面部畸形（即相对头大、前额突出、面部中部发育不全、鼻根塌陷、鼻头小而上翘、下颌突出）和异常的放射学发现，包括异常椎体（尤其是在腰椎区域）、条纹状干骺端、全身轻度骨质疏松症和腕骨延迟骨化。偶尔还伴有进行性髋内翻、短牙根、低免疫球蛋白血症和白内障。"},"tr":{"name":"SPONASTRIME displazisi","synonyms":["Spondiloepimetafizyal displazi, Sponastrime tipi","Metafiz (SPONASTRIME) displazisinin çizgileri ile seyreden spondiler ve nazal değişiklikler"]}},"xrefs":[{"source":"OMIM","code":"271510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1251339461"},{"source":"MONDO","code":"0010068","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535786","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1300260","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"TONSL","name":"tonsoku like, DNA repair protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30773278[PMID]_30773277[PMID]","hgnc":"7801","ensembl":"ENSG00000160949","omim":"604546","loci":["8q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":16.0,"area":"Worldwide","status":"Validated","source":"18203204[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18203204[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-07-05","source":"30773277[PMID]_30773278[PMID]_32959051[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000925","label":"Abnormality of the vertebral column","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004586","label":"Biconcave vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003025","label":"Metaphyseal irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031367","label":"Metaphyseal striations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100864","label":"Short femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010941","label":"Aplasia of the nasal bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001769","label":"Broad foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007707","label":"Congenital aphakia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001875","label":"Decreased total neutrophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002663","label":"Delayed epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004944","label":"Dilatation of the cerebral artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003015","label":"Flared metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003370","label":"Flat capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003895","label":"Flattened humeral epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002761","label":"Generalized joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030043","label":"Hip subluxation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004603","label":"Hyperconvex vertebral body endplates","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040221","label":"Hypoplasia of the dental root","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004646","label":"Hypoplasia of the nasal bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010234","label":"Ivory epiphyses of the phalanges of the hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030839","label":"Knee pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001377","label":"Limited elbow extension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","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:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003016","label":"Metaphyseal widening","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025492","label":"Microcoria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005446","label":"Obtuse angle of mandible","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010740","label":"Osteopathia striata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000826","label":"Precocious puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003182","label":"Shallow acetabular fossae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006336","label":"Short dental roots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030834","label":"Shoulder pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010585","label":"Small epiphyses","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}