Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome,[1] is a very rare multi-systemic genetic disorder which is characterized by brachial amelia (mainly that affecting the upper limbs) cleft lip, and forebrain defects such as holoprosencephaly.
[2][3] Approximately five cases of this disorder have been described in medical literature.
[4] 'Other signs include hydrocephalus and an iris coloboma.
[6] In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome.
[7] In 2000, a similar case was reported by Pierri et al.[8]