{"orpha":1104,"name":"Anophthalmia plus syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fryns microphthalmia syndrome","Microphthalmia with facial clefting"],"definition":"A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1104/","orphanet_url":"https://www.orpha.net/en/disease/detail/1104","names":{"fr":{"name":"Syndrome anophtalmie plus","synonyms":["Syndrome microphtalmie de Fryns"],"definition":"Syndrome d'anomalies congénitales multiples très rare, caractérisé par l'anophtalmie ou la microphtalmie sévère, une fente labiale/palatine, une fente faciale et des anomalies du tube neural dans la région sacrée, ainsi que diverses autres anomalies, dont le glaucome congénital, le colobome touchant l'iris, une hyperplasie du vitré primitif, un hypertélorisme, des oreilles à implantation basse, la clinodactylie, une atrésie/sténose choanale, une dysgénésie du sacrum, l'attachement de la moelle épinière, la syringomyélie, l'hypoplasie du corps calleux, la ventriculomégalie cérébrale et des anomalies endocriniennes. Une transmission autosomique récessive est suspectée."},"de":{"name":"Anophthalmie plus-Syndrom","synonyms":["Fryns-Mikrophthalmie-Syndrom","Mikrophthalmie mit Gesichtsspalte"],"definition":"Das Anopthalmie-plus-Syndrom ist ein sehr seltenes Syndrom multipler kongenitaler Anomalien und durch das Vorhandensein von Anophtalmie oder schwerer Mikropthalmie, Lippen-Kiefer-Gaumenspalte und Neuralrohrdefekte zusammen mit diversen zusätzlichen Anomalien einschließlich kongenitalen Glaukomen, Iriskolobomen, hyperplastischem primären Vitreus, Hyperteleorismus, tief sitzenden Ohren, Klinodaktylie, Choanalatresie/stenose, Sakrumdysgenesie, tethered-cord Syndrom, Syringomyelie, Hypoplasie des Corpus Callosum, zerebraler Ventrikulomegalie und endokrinen Auffälligkeiten charakterisiert."},"es":{"name":"Síndrome de anoftalmía plus","synonyms":["Microftalmia con hendidura facial","Síndrome de microftalmia de Fryns"],"definition":"Es un síndrome muy poco frecuente de anomalías congénitas múltiples caracterizado por la presencia de anoftalmia o microftalmia grave, paladar hendido/labio leporino, hendidura facial y defectos del tubo neural a nivel sacro, junto con otras anomalías adicionales que incluyen glaucoma congénito, coloboma del iris, vítreo primario hiperplásico, hipertelorismo, orejas de implantación baja, clinodactilia, atresia/estenosis coanal, disgenesia del sacro, médula espinal anclada, siringomielia, hipoplasia del cuerpo calloso, ventriculomegalia cerebral y anomalías endocrinas. Se ha sugerido una herencia autosómica recesiva."},"it":{"name":"Sindrome anoftalmia plus","synonyms":["Microftalmia con schisi facciale","Sindrome della microftalmia di Fryns"],"definition":"La sindrome anoftalmia-plus è una sindrome molto rara da anomalie congenite multiple, caratterizzata da anoftalmia o microcefalia grave, labioschisi/palatoschisi, schisi facciali e difetti del tubo neurale sacrale, associati a glaucoma congenito, coloboma dell'iride, iperplasia del vitreo primitivo, ipertelorismo, orecchie basse, clinodattilia, atresia/stenosi delle coane, disgenesia del sacro, midollo ancorato, siringomielia, ipoplasia del corpo calloso, ventricolomegalia cerebrale e anomalie endocrine. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Anoftalmie plus-syndroom","synonyms":["Microftalmie met aangezichtsspleten","Microftalmiesyndroom van Fryns"],"definition":"Een zeer zeldzaam syndroom met multipele congenitale anomalieën, gekarakteriseerd door de aanwezigheid van anoftalmie of ernstige microftalmie, gespleten lip/verhemelte, aangezichtsspleet en sacrale neuralebuisdefecten, samen met verschillende bijkomende anomalieën waaronder congenitaal glaucoom, coloboom van iris, primair hyperplastisch glasachtig lichaam, hypertelorisme, laagstaande oren, clinodactylie, choane atresie/stenose, dysgenesie van sacrum, gekluisterd ruggenmerg, syringomyelie, hypoplasie van corpus callosum, cerebrale ventriculomegalie, en endocriene afwijkingen. Overerving gebeurt vermoedelijk autosomaal recessief."},"pt":{"name":"Síndrome anoftalmia-plus"},"pl":{"name":"Zespół anoftalmia plus","synonyms":["Mikroftalmia z rozszczepem twarzy","Zespół mikroftalmii Frynsa"]},"cs":{"name":"Syndrom anoftalmie-plus","synonyms":["Syndrom Frynsovy mikroftalmie","Mikroftalmie s rozštěpem obličeje"]},"uk":{"name":"Синдром анофтальмії плюс","synonyms":["Синдром мікрофтальмії Фрінса","Мікрофтальмія з розщепленням обличчя"],"definition":"A very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested."},"zh":{"name":"无眼畸形加综合征","synonyms":["小眼畸形伴面裂"]},"tr":{"name":"Anoftalmi artı sendromu","synonyms":["Fryns mikroftalmi sendromu","Fasiyal yarıklı mikroftalmi"]}},"xrefs":[{"source":"OMIM","code":"600776","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1104114384"},{"source":"MONDO","code":"0010930","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537767","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"719","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"24341146[PMID]_25804017[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24341146[PMID]_25804017[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null}]}}