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Highlight for Query ‹Congenital IGHD type IB medication/1000

Yim–Ebbin syndrome

Abstract

Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma. It was first described by Yim and Ebbin in 1982, and later by Thomas and Donnai in 1994. In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome. In 2000, a similar case was reported by Pierri et al.

It is also known as "amelia cleft lip palate hydrocephalus iris coloboma".