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 |
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. [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]
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 |
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. [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]