Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

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Synonyms: Cassia Stocco dos Santos syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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