ICD-10 none OMIM 601357 | ICD-9-CM none MeSH C536713 | |
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".
References
Yim–Ebbin syndrome Wikipedia(Text) CC BY-SA