{"orpha":2399,"name":"Nasopalpebral lipoma-coloboma syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2399/","orphanet_url":"https://www.orpha.net/en/disease/detail/2399","names":{"fr":{"name":"Syndrome de lipomes naso-palpébraux-colobome","definition":"Syndrome rare d'anomalies congénitales multiples caractérisé par des lipomes naso-palpébraux, un colobome bilatéral des paupières, et un télécanthus."},"de":{"name":"Nasopalpebrales Lipom-Kolobom-Syndrom","definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch naso-palpebrale Lipome, bilaterale Lidkolobome und Telekanthus gekennzeichnet ist."},"es":{"name":"Síndrome de lipoma nasopalpebral-coloboma","definition":"Es un síndrome de múltiples anomalías congénitas poco frecuente caracterizado por lipomas nasopalpebrales, coloboma palpebral bilateral y telecanto."},"it":{"name":"Sindrome lipoma nasopalpebrale-coloboma","definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da lipomi nasopalpebrali, coloboma bilaterale della palpebra e telecanto."},"nl":{"name":"Nasopalpebraal lipoom - coloboom-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door nasopalpebraal lipoom, bilateraal coloboom van ooglid, en telecanthus."},"pt":{"name":"Síndrome de lipoma naso-palpebral-coloboma"},"pl":{"name":"Zespół tłuszczaka nosowo-powiekowego i szczeliny oka"},"cs":{"name":"Syndrom zahrnující nazopalpebrální lipom, kolobom a telekantus"},"uk":{"name":"Синдром назопалпебральної ліпоми-колобоми","definition":"A rare multiple congenital anomalies syndrome characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus."},"zh":{"name":"鼻睑脂肪瘤-眼缺损综合征"},"tr":{"name":"Nazopalpebral lipom-kolobom sendromu"}},"xrefs":[{"source":"OMIM","code":"167730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q10.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"105799983"},{"source":"MONDO","code":"0008182","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868660","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":19.0,"area":"Worldwide","status":"Validated","source":"27139419[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-10-30","source":"27139419[PMID]_23636874[PMID]_21836344[PMID]_11115270[PMID]_1756608[PMID]_7091184[PMID]","terms":[{"hpo":"HP:0000589","label":"Coloboma","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030953","label":"Conjunctival hyperemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031111","label":"Cutaneous hamartoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000437","label":"Depressed nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009926","label":"Epiphora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030670","label":"Hamartoma of the orbital region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007820","label":"Lacrimal punctal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040164","label":"Lipomas of upper eyelids","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008850","label":"Severe postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:3000022","label":"Abnormality of cartilage of external ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007633","label":"Bilateral microphthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Excluded (0%)","criteria":null}]}}