{"orpha":168984,"name":"CLAPO syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-168984/","orphanet_url":"https://www.orpha.net/en/disease/detail/168984","names":{"fr":{"name":"Syndrome CLAPO","definition":"Malformation vasculaire complexe rare caractérisée par une malformation capillaire de la lèvre inférieure, une malformation lymphatique du visage et du cou, une asymétrie faciale et des membres ainsi qu'un excès de croissance localisé ou généralisé incluant une ou plusieurs parties du corps."},"de":{"name":"CLAPO-Syndrom","definition":"Ein seltenes komplexes vaskuläres Fehlbildungssyndrom, das durch eine kapilläre Fehlbildung der Unterlippe, eine lymphatische Fehlbildung des Gesichts und des Halses, eine Asymmetrie des Gesichts und der Gliedmaßen und eine partielle oder generalisierte Überwucherung eines oder mehrerer Körpersegmente gekennzeichnet ist."},"es":{"name":"Síndrome CLAPO","definition":"Es un síndrome de malformación vascular complejo y poco frecuente caracterizado por malformación capilar del labio inferior, malformación linfática de cara y cuello, asimetría facial y de las extremidades, y un exceso de crecimiento parcial o generalizado que afecta a uno o más segmentos del cuerpo."},"it":{"name":"Sindrome CLAPO"},"nl":{"name":"CLAPO-syndroom","definition":"Een zeldzaam, complex vasculair malformatiesyndroom, gekarakteriseerd door malformatie van capillairen van onderlip, lymfatische malformatie van aangezicht en nek, asymmetrie van gelaat en ledematen, en partiële of gegeneraliseerde overgroei met betrokkenheid van een of meer lichaamsdelen."},"pt":{"name":"Síndrome CLAPO","definition":"A síndrome CLAPO é uma síndrome recentemente descrita consistindo em malformação capilar do lábio inferior (C), malformação linfática da face e pescoço (L), assimetria da face e dos membros (A) e sobrecrescimento parcial ou generalizado (O)."},"pl":{"name":"Zespół CLAPO"},"cs":{"name":"CLAPO syndrom"},"uk":{"name":"Синдром CLAPO","definition":"A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments."},"zh":{"name":"CLAPO 综合征","definition":"CLAPO综合征是一种新型综合征，包括下唇毛细血管畸形（C）、面颈部淋巴管畸形（L）、面部和四肢不对称（a）、偏身或全身过度发育（O）。"},"tr":{"name":"CLAPO sendromu"}},"xrefs":[{"source":"OMIM","code":"613089","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":"415642712"},{"source":"MONDO","code":"0013125","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567763","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2751313","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":715460,"name":"Syndromic geographic pattern capillary 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":"Not yet assessed","source":"29446767[PMID]_29766551[PMID]","hgnc":"8975","ensembl":"ENSG00000121879","omim":"171834","loci":["3q26.32"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"18798326[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_18798326[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"29446767[PMID]_18798326[PMID]","terms":[{"hpo":"HP:0005306","label":"Capillary hemangioma","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031487","label":"Capillary malformation of the lip","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001548","label":"Overgrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100553","label":"Hemihypertrophy of lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100554","label":"Hemihypertrophy of upper limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004099","label":"Macrodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000098","label":"Tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003005","label":"Ganglioneuroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}