{"orpha":93267,"name":"Cloverleaf skull-multiple congenital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93267/","orphanet_url":"https://www.orpha.net/en/disease/detail/93267","names":{"fr":{"name":"Syndrome de crâne en trèfle-anomalies congénitales multiples","definition":"Ce syndrome, de description récente, associe un crane en forme de feuille de trèfle, des membres courts, une dysmorphie faciale et de multiples malformations congénitales."},"de":{"name":"Kleeblattschädel - multiple kongenitale Anomalien","definition":"Dieses kürzlich beschriebene Syndrom ist gekennzeichnet durch Kleeblattschädel, Gliedmaßenfehlbildungen, Dysmorphien und multiple kongenitale Fehlbildungen."},"es":{"name":"Síndrome de cráneo en trébol-anomalías congénitas múltiples","definition":"Este síndrome, recientemente descrito, se caracteriza por un cráneo en hoja de trébol, anomalías de las extremidades, dismorfismo y múltiples malformaciones congénitas."},"it":{"name":"Cranio a trifoglio - anomalie congenite multiple"},"nl":{"name":"Klaverbladschedel - multipele congenitale anomalieën-syndroom","definition":"Een syndroom, gekenmerkt door klaverbladschedel, ledemaatanomalieën, faciale dysmorfie, en multipele congenitale anomalieën."},"pt":{"name":"Síndrome de crânio em trevo-anomalias congénitas múltiplas","definition":"Esta síndrome recentemente descrita é caracterizada por crânio em forma de trevo, anomalias dos membros, dismorfismo e múltiplas anomalias congénitas."},"pl":{"name":"gg"},"cs":{"name":"Syndrom zahrnující lebku tvaru jetelového listu a mnohočetné vrozené anomálie"},"uk":{"name":"Синдром множинних вроджених аномалій черепа типу листя конюшини","definition":"This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies."},"zh":{"name":"三叶草状颅-多发性先天性异常综合征","definition":"这个新报道的综合征特点是分叶状颅骨、四肢畸形、面部畸形和多发性先天性畸形。"},"tr":{"name":"Yonca yaprağı kafatası-çoklu doğumsal anomaliler sendromu"}},"xrefs":[{"source":"OMIM","code":"607161","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"688184453"},{"source":"MONDO","code":"0011788","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564611","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846671","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"12081722[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12081722[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12081722[PMID]","terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002676","label":"Cloverleaf skull","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002691","label":"Platybasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009623","label":"Proximal placement of thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null}]}}