{"orpha":171839,"name":"Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Berant syndrome","Capra-DeMarco syndrome","Familial scaphocephaly-radioulnar synostosis syndrome"],"definition":"A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-171839/","orphanet_url":"https://www.orpha.net/en/disease/detail/171839","names":{"fr":{"name":"Syndrome de craniosynostose-hydrocéphalie-malformation d'Arnold-Chiari type I-synostose radio-ulnaire","synonyms":["Syndrome de scaphocéphallie familiale-synostose radio-ulnaire","Syndrome de Berant","Syndrome de Capra-DeMarco"],"definition":"Le syndrome Capra-DeMarco est caractérisé par une craniosynostose sagittale, une hydrocéphalie, une malformation de Chiari 1 et une synostose radiocubitale. D'autres signes cliniques sont un blépharophimosis, de petites oreilles bas implantées, un philtrum court, une malformation rénale et un hypogénitalisme."},"de":{"name":"Kraniosynostose-Hydrozephalus-Chiari-Fehlbildung I-radioulnare Synostose-Syndrom","synonyms":["Berant-Syndrom","Capra-DeMarco-Syndrom","Syndrom des familiären Skaphozephalus mit Radioulnarsynostose"],"definition":"Eine seltene syndromale Kraniosynostose, die durch sagittale Kraniosynostose, Hydrozephalus, Chiari-I-Malformation und radioulnare Synostose gekennzeichnet ist. Zu den weiteren klinischen Befunden gehören Blepharophimose, kleine, tief angesetzte Ohren, hypoplastisches Philtrum, Fehlbildung der Nieren und Hypogenitalismus."},"es":{"name":"Síndrome de craneosinostosis-hidrocefalia-malformación de Chiari 1-sinostosis radiocubital","synonyms":["Escafocefalia familiar-sinostosis radiocubital","Síndrome de Berant","Síndrome de Capra-DeMarco"],"definition":"Es un trastorno sindrómico poco frecuente caracterizado por craneosinostosis sagital, hidrocefalia, malformación de Chiari I y sinostosis radiocubital. Otros hallazgos clínicos incluyen blefarofimosis, orejas pequeñas de implantación baja, surco nasolabial hipoplásico, malformación renal e hipogenitalismo."},"it":{"name":"Craniosinostosi - idrocefalo - malformazione di Chiari I - sinostosi radioulnare","synonyms":["Scafocefalia familiare - sinostosi radioulnare","Sindrome di Berant","Sindrome di Capra-DeMarco"]},"nl":{"name":"Craniosynostose - hydrocefalus - malformatie van Arnold-Chiari type I - radio-ulnaire synostose-syndroom","synonyms":["Familiale scafocefalie - radio-ulnaire synostose-syndroom","Syndroom van Berant","Syndroom van Capra-DeMarco"],"definition":"Een zeldzame syndromale craniosynostose, gekenmerkt door sagittale craniosynostose, hydrocefalie, Chiari-malformatie type I, en radio-ulnaire synostose. Andere klinische bevindingen zijn onder meer blefarofimose, kleine en laagstaande oren, hypoplastisch filtrum, malformatie van nier, en hypogenitalisme."},"pt":{"name":"Síndrome de craniossinostose-hidrocefalia-malformação de Arnold-Chiari tipo I-sinostose radio-cubital","synonyms":["Síndrome Capra-DeMarco"]},"pl":{"name":"Kraniosynostoza- wodogłowie - malformacja Chiarego I - synostoza promieniowo-łokciowa","synonyms":["Rodzinna skafocefalia - synostoza promieniowo-łokciowa","Zespół Beranta","Zespół Capra i DeMarco"]},"cs":{"name":"Syndrom zahrnující kraniosynostózu, hydrocefalus, Arnoldovu-Chiariho malformaci typu I, a radioulnární synostózu","synonyms":["Syndrom zahrnující familiární skafocefalii a radioulnární synostózu","Berantův syndrom","Caprův-DeMarcův syndrom","Syndrom zahrnující kraniosynostózu, hydrocefalus, Arnold-Chiariho malformaci typ I, a radioulnární synostózu","Capra-DeMarcův syndrom"]},"uk":{"name":"Синдром краніосиностозу-гідроцефалії-вади Арнольда-Кіарі типу I - радіоульнарного синостозу","synonyms":["Синдром Беранта","Синдром Капра-ДеМарко","Сімейний синдром скафоцефалії-радіоульнарного синостозу"],"definition":"A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism."},"zh":{"name":"颅缝早闭-脑积水-Arnold-Chiari I型畸形-尺桡骨骨性愈合综合征","synonyms":["Capra-DeMarco综合征"],"definition":"颅缝早闭-脑积水-Amold-Chiari畸形I型-桡尺关节脱位综合征主要临床表现为矢状颅缝早闭、脑积水、Chiari 畸形I型和桡尺关节脱位。其他临床表现为眼裂狭小，低位小耳畸形，人中发育障碍，肾畸形和生殖腺发育不全。"},"tr":{"name":"Kraniyosinostoz-hidrosefali-Arnold-Chiari malformasyon tip I-radioulnar sinostoz sendromu","synonyms":["Ailesel sikafosefali-radioulnar sinostozis sendromu","Berant sendromu","Capra-DeMarco sendromu"]}},"xrefs":[{"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":"312778814"},{"source":"MONDO","code":"0015751","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3267187","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"19022412[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19022412[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","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:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002308","label":"Chiari malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000054","label":"Micropenis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007375","label":"Abnormality of the septum pellucidum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002059","label":"Cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001285","label":"Spastic tetraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null}]}}