Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Definition
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.
Also known as anophthalmia megalocornea cardiopathy skeletal anomalies, Cassia Stocco dos Santos syndrome — per MONDO