{"orpha":1855,"name":"Spondyloenchondrodysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["SPENCD","Spondyloenchondromatosis","Spondylometaphyseal dysplasia with enchondromatous changes"],"definition":"Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, intellectual disability and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus hemolytic anemia and thyroiditis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1855/","orphanet_url":"https://www.orpha.net/en/disease/detail/1855","names":{"fr":{"name":"Dysplasie spondylo-enchondrale","synonyms":["SPENCD","Spondyloenchondromatose"],"definition":"Dysplasie squelettique génétique très rare caractérisée sur le plan clinique par des anomalies squelettiques (petite taille, platyspondylie, os iliaque large et court) et des enchondromes dans les os longs ou le bassin. Cette dysplasie peut présenter un spectre clinique hétérogène avec une atteinte neurologique (spasticité, déficience intellectuelle et calcifications cérébrales) ou des manifestations auto-immunes, telles que le purpura thrombocytopénique immunologique, le lupus érythémateux disséminé, l'anémie hémolytique et la thyroïdite."},"de":{"name":"Spondyloenchondrodysplasie","synonyms":["SPENCD","Spondyloenchondromatose","Spondylometaphysäre Dysplasie mit enchondromatösen Veränderungen"],"definition":"Die Spondyloenchondrodysplasie (SPENCD) ist eine sehr seltene genetische Skelettdysplasie, die klinisch durch Skelettanomalien (Kleinwuchs, Platyspondylie, kurzes breites Os ilium) und Enchondrome in den Röhrenknochen oder im Becken charakterisiert ist. SPENCD kann ein heterogenes klinisches Spektrum mit neurologischen Beteiligung (Spastizität, Intelligenzminderung und zerebrale Verkalkungen) oder Autoimmunmanifestationen (wie immun-thrombozytopenische Purpura, systemischer Lupus erythematodes, hämolytische Anämie und Thyreoiditis) aufweisen."},"es":{"name":"Espondiloencondrodisplasia","synonyms":["Espondiloencondromatosis","SPENCD"],"definition":"Es una displasia esquelética genética y poco frecuente caracterizada clínicamente por anomalías esqueléticas (talla baja, platispondilia, hueso iliaco ancho y corto) y encondromas en los huesos largos o en la pelvis. Esta displasia puede presentar un espectro clínico heterogéneo con afectación neurológica (espasticidad, discapacidad intelectual y calcificaciones cerebrales) o manifestaciones autoinmunes, tales como púrpura trombocitopénica inmune, lupus eritematoso sistémico, anemia hemolítica y tiroiditis."},"it":{"name":"Spondiloencondrodisplasia","synonyms":["Displasia spondilometafisaria con alterazioni encondromatose","SPENCD","Spondiloencondromatosi"],"definition":"La spondiloencondrodisplasia (SPENCD) è una displasia scheletrica genetica molto rara caratterizzata da anomalie dello scheletro (bassa statura, platispondilia, ilei larghi e corti) ed encondromi a livello delle ossa lunghe o del bacino. La SPENCD può presentare un quadro clinico eterogeneo, con interessamento neurologico (spasticità, ritardo mentale e calcificazioni cerebrali), oppure segni autoimmuni, come la porpora trombocitopenica immune, il lupus eritematoso sistemico (si vedano questi termini), l'anemia emolitica e la tiroidite."},"nl":{"name":"Spondylo-enchondrodysplasie","synonyms":["Spondylometafysaire dysplasie met enchondromateuze veranderingen","SPENCD","Spondylo-enchondromatose"],"definition":"Spondylo-enchondrodysplasie (SPENCD) is een zeer zeldzame genetische skeletdysplasie, klinisch gekenmerkt door skeletanomalieën (kleine gestalte, platyspondylie, korte en brededarmbeenderen) en enchondromen in pijpbeenderen of bekken. SPENCD kan een heterogeen klinisch spectrum vertonen, met neurologische betrokkenheid (spasticiteit, intellectuele achterstand en cerebrale calcificaties) of auto-immune manifestaties zoals immune trombocytopenische purpura, systemische lupus erythematosus, hemolytische anemie en thyreoïditis."},"pt":{"name":"Espondilo-encondrodisplasia"},"pl":{"name":"Dysplazja kręgowa ze zmianami podobnymi do chrzęstniaków","synonyms":["Spondyloenchondromatoza","Spondylometaphyseal dysplasia with enchondromatous changes","SPENCD"],"definition":"Spondyloenchondrodysplazja (SPENCD) to bardzo rzadka genetyczna dysplazja szkieletowa, klinicznie charakteryzująca wadami układu kostnego (niski wzrost, platyspondylia, krótkie szerokie kości biodrowe) i enchondromami w kościach długich lub miednicy. SPENCD może tworzyć heterogenne spektrum kliniczne z zajęciem układu nerwowego (spastyczność, niepełnosprawność intelektualna i zwapnienia mózgu) lub objawami autoimmunologicznymi, takimi jak immunologiczna plamica małopłytkowa, toczeń rumieniowaty układowy (patrz te terminy), niedokrwistość hemolityczna i zapalenie tarczycy."},"cs":{"name":"Spondyloenchondrodysplázie","synonyms":["SPENCD","Spondyloenchondromatóza","Spondylometafyzeální dysplázie s enchondromatózními změnami"]},"uk":{"name":"Спондилоенхондродисплазія","synonyms":["SPENCD","Спондилоенхондроматоз","Спондилометафізарна дисплазія з енхондроматозними змінами"],"definition":"Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis."},"zh":{"name":"脊柱内生软骨瘤发育不良","synonyms":["脊椎干骺端发育不良伴内生软骨瘤改变"]},"tr":{"name":"Spondiloenkondrodisplazi","synonyms":["SPENCD","Spondiloenkondromatoz","Enkondromatöz değişiklikler ile seyreden spondilometafizyal displazi"]}},"xrefs":[{"source":"OMIM","code":"607944","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":"1647105106"},{"source":"MONDO","code":"0011939","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432222","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4978","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":50816,"name":"Spondylometaphyseal dysplasia with combined immunodeficiency","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":254,"name":"Spondylometaphyseal dysplasia","classifications":[147,156,199]},{"orpha":477647,"name":"Type 1 interferonopathy","classifications":[156,196]},{"orpha":481671,"name":"Type 1 interferonopathy of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"ACP5","name":"acid phosphatase 5, tartrate resistant","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21217755[PMID]_21217752[PMID]","hgnc":"124","ensembl":"ENSG00000102575","omim":"171640","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":36.0,"area":"Worldwide","status":"Validated","source":"16470600[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16470600[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-08-21","source":"26854080[PMID]_26951490[PMID]_30558059[PMID]","terms":[{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100255","label":"Metaphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0020151","label":"Anti-dsDNA antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002518","label":"Abnormal periventricular white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030047","label":"Abnormality of lateral ventricle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001369","label":"Arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001890","label":"Autoimmune hemolytic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001973","label":"Autoimmune thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002979","label":"Bowing of the legs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002514","label":"Cerebral calcification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003521","label":"Disproportionate short-trunk short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030038","label":"Enchondroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032252","label":"Granuloma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012115","label":"Hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005681","label":"Juvenile rheumatoid arthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030880","label":"Raynaud phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002725","label":"Systemic lupus erythematosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002633","label":"Vasculitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001876","label":"Pancytopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002090","label":"Pneumonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null}]}}