{"orpha":2052,"name":"Fraser syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cryptophthalmos-syndactyly syndrome"],"definition":"A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2052/","orphanet_url":"https://www.orpha.net/en/disease/detail/2052","names":{"fr":{"name":"Syndrome de Fraser","synonyms":["Syndrome cryptophtalmie-syndactylie","Syndrome de cryptophtalmie-syndactylie"],"definition":"Malformation congénitale rare caractérisée principalement par une cryptophtalmie unilatérale ou bilatérale, une syndactylie et des anomalies urogénitales."},"de":{"name":"Fraser-Syndrom","synonyms":["Kryptophthalmie-Syndaktylie-Syndrom"],"definition":"Eine seltene kongenitale Fehlbildung, die hauptsächlich durch ein- oder beidseitigen Kryptophthalmus, Syndaktylie und urogenitale Anomalien gekennzeichnet ist."},"es":{"name":"Síndrome de Fraser","synonyms":["Síndrome criptoftalmia-sindactilia"],"definition":"Es una malformación congénita poco frecuente caracterizada principalmente por criptoftalmia uni- o bilateral, sindactilia y anomalías urogenitales."},"it":{"name":"Sindrome di Fraser","synonyms":["Sindrome criptoftalmia-sindattilia"],"definition":"La sindrome di Fraser (FS) è una malformazione congenita rara caratterizzata da criptoftalmo mono- o bilaterale, sindattilia e anomalie urogenitali."},"nl":{"name":"Syndroom van Fraser","synonyms":["Cryptoftalmie - syndactylie-syndroom"],"definition":"Een zeldzame congenitale malformatie, vooral gekarakteriseerd door unilaterale of bilaterale cryptoftalmie, syndactylie, en urogenitale anomalieën."},"pt":{"name":"Síndrome Fraser","synonyms":["Síndrome de criptoftalmia-sindactilia"]},"pl":{"name":"Zespół Frasera","synonyms":["Zespół skrytoocze-syndaktylia"]},"cs":{"name":"Fraserův syndrom","synonyms":["Syndrom kryptoftalmu se syndaktylií"]},"uk":{"name":"Синдром Фрейзера","synonyms":["Синдром криптофтальмо-синдактилії"],"definition":"A rare congenital malformation mainly characterized by unilateral or bilateral cryptophthalmos, syndactyly and urogenital anomalies."},"zh":{"name":"Fraser综合征","synonyms":["隐眼并指综合征"]},"tr":{"name":"Fraser sendromu","synonyms":["Kriptoftalmos-sindaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"219000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617666","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617667","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"968262849"},{"source":"MONDO","code":"0009046","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058497","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265233","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6465","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10080219","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":2051,"name":"Fraser-like syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98562,"name":"Cryptophthalmia","classifications":[147,156,189]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"FRAS1","name":"Fraser extracellular matrix complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23473829[PMID]","hgnc":"19185","ensembl":"ENSG00000138759","omim":"607830","loci":["4q21.21"]},{"symbol":"FREM2","name":"FRAS1 related extracellular matrix 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18671281[PMID]","hgnc":"25396","ensembl":"ENSG00000150893","omim":"608945","loci":["13q13.3"]},{"symbol":"GRIP1","name":"glutamate receptor interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22510445[PMID]","hgnc":"18708","ensembl":"ENSG00000155974","omim":"604597","loci":["12q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"23532946[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"Spain","status":"Validated","source":"9662850[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-11-10","source":"18000968[PMID]","terms":[{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001126","label":"Cryptophthalmos","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0007925","label":"Lacrimal duct aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007993","label":"Malformed lacrimal ducts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000377","label":"Abnormal pinna 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(79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010458","label":"Female pseudohermaphroditism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008749","label":"Laryngeal hypoplasia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000148","label":"Vaginal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002101","label":"Abnormal lung lobation","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000813","label":"Bicornuate uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003191","label":"Cleft ala nasi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004397","label":"Ectopic anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004112","label":"Midline nasal groove","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002475","label":"Myelomeningocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001539","label":"Omphalocele","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001362","label":"Skull defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001607","label":"Subglottic stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000068","label":"Urethral atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0009826","label":"Limb undergrowth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003183","label":"Wide pubic symphysis","frequency":"Very rare (<4-1%)","criteria":null}]}}