{"orpha":1101,"name":"Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Cassia Stocco dos Santos syndrome"],"definition":"A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1101/","orphanet_url":"https://www.orpha.net/en/disease/detail/1101","names":{"fr":{"name":"Syndrome d'anophtalmie-mégalocornée-cardiopathie-anomalies squelettiques","synonyms":["Syndrome de Cassia-Stocco-Dos Santos"],"definition":"Syndrome rare d'anomalies congénitales multiples, rapporté chez les descendants d'un couple consanguin et caractérisé par de multiples anomalies congénitales squelettiques (dolichocéphalie, asymétrie crânienne, camptodactylie, pied bot), musculaires (hypoplasie musculaire), oculaires (anophtalmie, buphtalmie, décollement de la rétine, aniridie) et cardiaques (prolapsus des valves tricuspides, insuffisance mitrale et tricuspidienne). Le mode de transmission serait autosomique récessif et l'expressivité variable. Aucun nouveau cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Anophthalmie-Megalokornea-Kardiopathie-Skelettanomalien-Syndrom","synonyms":["Cassia-Stocco-dos Santos-Syndrom"],"definition":"Ein sehr seltenes Syndrom mit schwere Augenanomalien und anderen Fehlbildungen wurde bei einer Geschwisterreihe mit blutsverwandten Eltern (V/K II°) beschrieben. Es ist gekennzeichnet durch multiple kongenitale Skelettanomalien (Dolichozephalie, Schädelasymmetrie, Kamptodaktylie, Klumpfuß), Muskelanomalien (Muskelhypoplasie), Augenanomalien (Anophthalmie, Buphthalmus, Netzhautablösung, Aniridie (siehe diesen Begriff)) und Herzanomalien (Prolaps der Trikuspidalklappen, Mitral- und Trikuspidalinsuffizienz). Es wurde ein autosomal-rezessiver Erbgang mit variabler Expressivität vermutet. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de anoftalmia-megalocórnea-cardiopatía-anomalías esqueléticas","synonyms":["Síndrome de Cassia-Stocco-dos Santos"],"definition":"Es un síndrome poco frecuente de anomalías congénitas múltiples descrito en los descendientes de una pareja consanguínea y caracterizado por múltiples anomalías congénitas esqueléticas (dolicocefalia, asimetría craneal, camptodactilia, pie zambo), musculares (hipoplasia muscular), oculares (anoftalmia, buftalmos, desprendimiento de retina, aniridia) y cardíacas (prolapso de las válvulas tricúspides, insuficiencia mitral y tricúspide). Se sospecha una herencia autosómica recesiva con expresividad variable. No ha habido más descripciones en la literatura desde 1992."},"it":{"name":"Anoftalmia - megalocornea - cardiopatia - anomalie scheletriche","synonyms":["Sindrome di Cassia-Stocco-Dos Santos"]},"nl":{"name":"Anoftalmie - megalocornea - cardiopathie - skeletale anomalieën-syndroom","synonyms":["Syndroom van Cassia-Stocco-dos Santos"],"definition":"Een zeldzaam syndroom van multipele congenitale anomalieën, gerapporteerd bij nakomelingen van een bloedverwant koppel, en gekarakteriseerd door meervoudige congenitale afwijkingen van skelet (dolichocefalie, asymmetrische schedel, camptodactylie, klompvoet), spier (hypoplasie van spier), oog (anoftalmie, buftalmie, netvliesloslating, aniridie) en hart (prolaps van tricuspidalisklep, mitralis- en tricuspidalisinsufficiëntie). Overerving gebeurt vermoedelijk autosomaal recessief met variabele expressiviteit. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de anoftalmia-megalocórnea-cardiopatia-anomalias esqueléticas","synonyms":["Síndrome Cassia-Stocco-dos Santos"]},"pl":{"name":"Anopftalmia - rogówka olbrzymia - kardiopatia - anomalie szkieletowe","synonyms":["Zespół Cassia Stocco dos Santos"]},"cs":{"name":"Syndrom zahrnující anoftalmii, megalokorneu, kardiopatii a anomálie skeletu","synonyms":["Syndrom Stocco dos Santosové"]},"uk":{"name":"Синдром анофтальмії-мегалокорнеа-кардіопатії-скелетних аномалій","synonyms":["Синдром Касії Стокко дос Сантос"],"definition":"A rare multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992."},"zh":{"name":"无眼畸形-巨角膜-心脏病-骨骼畸形综合征","synonyms":["Cassia Stocco dos Santos 综合征"]},"tr":{"name":"Anoftalmi-megalokornea-kardiyopati-iskelet anomalileri sendromu","synonyms":["Cassia Stocco dos Santos sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015230","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304035","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"717","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":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1415344[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1415344[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-21","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200007","label":"Abnormal size of the palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004327","label":"Abnormal vitreous humor morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000526","label":"Aniridia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009004","label":"Hypoplasia of the musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001653","label":"Mitral regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005180","label":"Tricuspid regurgitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001704","label":"Tricuspid valve prolapse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null}]}}