syndromic disease multiple congenital anomalies/dysmorphic syndrome without intellectual disability anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome https://rarediseases.info.nih.gov/diseases/717/anophthalmia-megalocornea-cardiopathy-skeletal-anomalies https://www.malacards.org/card/anophthalmia_megalocornea_cardiopathy_skeletal_anomalies_syndrome GARD:0000717 Orphanet:1101 SCTID:720495005 MONDO:0015230 MEDGEN:929704 UMLS:C4304035 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a 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. Cassia Stocco dos Santos syndrome anophthalmia megalocornea cardiopathy skeletal anomalies