Brachial amelia, cleft lip, and holoprosencephaly
Medical condition
From Wikipedia, the free encyclopedia
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]
| Brachial amelia, cleft lip, and holoprosencephaly | |
|---|---|
| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | varies |
| Frequency | very rare, only 5 cases have been reported in medical literature |
Other signs include hydrocephalus and an iris coloboma.[1] It was first described by Yim and Ebbin in 1982,[5] and later by Thomas and Donnai in 1994.[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]
