{"orpha":140944,"name":"CLOVES syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome","Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"],"definition":"A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140944/","orphanet_url":"https://www.orpha.net/en/disease/detail/140944","names":{"fr":{"name":"Syndrome CLOVES","synonyms":["Syndrome d'excroissance lipomateuse congénitale-malformation vasculaire-naevus épidermique-anomalie rachidienne","Syndrome d'excroissance lipomateuse congénitale-malformation vasculaire-naevus épidermique-anomalie squelettique"],"definition":"Anomalie rare du développement embryonnaire caractérisée par des excroissances lipomateuses congénitales, des malformations vasculaires combinées complexes et progressives du tronc et par des nævi épidermiques."},"de":{"name":"CLOVES-Syndrom","synonyms":["CLOVE-Syndrom","CLOVES-Syndrom","Kongenitaler lipomatöser Überwuchs-vaskuläre Malformation-epidermale Naevi-Skelettanomalien"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, die durch kongenitale lipomatöse Überwucherung, komplexe und progressive kombinierte vaskuläre Fehlbildungen, die den Rumpf betreffen, und epidermale Nävi gekennzeichnet ist."},"es":{"name":"Síndrome CLOVE","synonyms":["Síndrome de sobrecrecimiento lipomatoso congénito-malformación vascular-nevos epidérmicos-anomalía espinal","Síndrome de sobrecrecimiento lipomatoso congénito-malformación vascular-nevos epidérmicos-anomalía esquelética"],"definition":"Es un defecto poco frecuente del desarrollo durante la embriogénesis caracterizado por un sobrecrecimiento lipomatoso congénito, malformaciones vasculares combinadas complejas y progresivas que afectan al tronco y nevus epidérmicos."},"it":{"name":"Sindrome CLOVES"},"nl":{"name":"CLOVES-syndroom","synonyms":["Congenitale lipomateuze overgroei - vasculaire malformatie - epidermale naevi - skeletanomalie-syndroom","Congenitale lipomateuze overgroei - vasculaire malformatie - epidermale naevi - spinale anomalie-syndroom"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door congenitale lipomateuze overgroei, complexe en progressieve gecombineerde truncale vasculaire malformaties, en epidermale naevi."},"pt":{"name":"Síndrome CLOVES","definition":"Defeito raro de desenvolvimento durante a embriogénese caracterizado por crescimento excessivo de lipomas congénitos, malformações vasculares combinadas complexas e progressivas que afetam o tronco e nevos epidérmicos."},"pl":{"name":"Zespół CLOVE","synonyms":["Wrodzony przerost tłuszczowy - malformacje naczyniowe - znamię naskórkowe"]},"cs":{"name":"CLOVES syndrom","synonyms":["Syndrom zahrnující vrozené lipomatózní přerůstání, vaskulární malformace, epidermální névus a skeletální anomálii","Syndrom zahrnující vrozené lipomatózní přerůstání, vaskulární malformace, epidermální névus a spinální anomálii"]},"uk":{"name":"Синдром CLOVES","synonyms":["Вроджене ліпоматозне розростання - судинна мальформація - епідермальний невус-скелетна аномалія","Синдром вродженого ліпоматозного розростання-судинної мальформації-епідермального невусу- аномалії розвитку хребта"],"definition":"A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi."},"zh":{"name":"先天性脂肪瘤样增生，血管畸形和表皮痣综合征","synonyms":["先天性脂肪性过度生长-血管畸形-表皮痣-脊髓畸形综合征"],"definition":"CLOVE综合征的特征是先天性脂肪瘤过度生长，进行性复杂混合性躯干血管畸形，并伴有表皮痣。"},"tr":{"name":"CLOVES sendromu","synonyms":["Doğumsal lipomatöz aşırı büyüme-vasküler malformasyon-epidermal nevüs-spinal anomali sendromu","Doğumsal lipomatöz aşırı büyüme-vasküler malformasyon-epidermal nevüs-iskelet anomali sendromu"]}},"xrefs":[{"source":"OMIM","code":"612918","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2C","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"848061609"},{"source":"MONDO","code":"0013038","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567863","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2752042","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10939","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":459537,"name":"Genetic complex vascular malformation with associated anomalies","classifications":[156]},{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","classifications":[156]},{"orpha":498448,"name":"Overgrowth or tall stature syndrome with skeletal involvement","classifications":[147,156,199]},{"orpha":530313,"name":"PIK3CA-related overgrowth spectrum disorder","classifications":[147,156]},{"orpha":728584,"name":"PIK3CA-related overgrowth spectrum disorder with vascular malformation","classifications":[147,198]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]},{"orpha":79382,"name":"Subcutaneous tissue disease","classifications":[187]},{"orpha":715460,"name":"Syndromic geographic pattern capillary malformation","classifications":[147,198]},{"orpha":723261,"name":"Syndromic venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"PIK3CA","name":"phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"22658544[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"31334068[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31334068[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-01-29","source":"24161472[PMID]_35444443[PMID]_27426476[PMID]","terms":[{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009126","label":"Increased adipose tissue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100766","label":"Abnormal lymphatic vessel morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001169","label":"Broad palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001782","label":"Bulbous tips of toes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010816","label":"Epidermal nevus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430028","label":"Hyperplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004099","label":"Macrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009487","label":"Ulnar deviation of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033794","label":"Acral overgrowth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000965","label":"Cutis marmorata","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007206","label":"Hemimegalencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031287","label":"Seborrheic keratosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010609","label":"Skin tags","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025476","label":"Testicular lipomatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002667","label":"Nephroblastoma","frequency":"Very rare (<4-1%)","criteria":null}]}}