Cat Eye Syndrome (Schmid-Fraccaro Syndrome)

Cat eye syndrome (CES), also known as Schmid-Fraccaro syndrome, is a rare genetic disorder named for the vertical iris coloboma observed in some affected individuals. The condition is classically characterized by a triad of features—iris coloboma, anal atresia, and preauricular pits or tags. However, CES can also involve a range of abnormalities affecting the neurodevelopmental, ocular, auricular, nasal, cardiovascular, gastrointestinal, and urogenital systems (see Image. Schematic Diagram…

via https://pubmed.ncbi.nlm.nih.gov/40465813/?utm_source=Other&utm_medium=rss&utm_campaign=None&utm_content=1L37KAMf2b_g4WEK3LmdFuKZu9pO3cN7u4ZmO9PPCPeBLMIw1q&fc=None&ff=20250613010910&v=2.18.0.post9+e462414


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