Brachial amelia, cleft lip, and holoprosencephaly explained

Brachial amelia, cleft lip, and holoprosencephaly
Prevention:none
Management:-->
Prognosis:varies
Frequency:very rare, only 5 cases have been reported in medical literature

Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome, 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.[1] [2] Approximately five cases of this disorder have been described in medical literature.[3]

'Other signs include hydrocephalus and an iris coloboma.[4] 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]

External links

Notes and References

  1. Web site: Brachial amelia, cleft lip, and holoprosencephaly - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-26 . rarediseases.info.nih.gov . en.
  2. Web site: Amelia cleft lip palate hydrocephalus iris coloboma (Concept Id: C1832434) - MedGen - NCBI . 2022-05-26 . www.ncbi.nlm.nih.gov.
  3. Web site: OMIM Entry – % 601357 - BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH . 2022-05-26 . omim.org . en-us.
  4. Web site: MeSH. MeSH Supplementary Concept Data. 2011-11-05.
  5. Bilateral brachial amelia with cleft lip and palate and hydrocephaly: case report 82. Syndrome Identification. 3–5. 8. 1982. A. J.. D. K. C.. Ebbin.
  6. Clinical Dysmorphology. Thomas. M.. Donnai. D.. Bilateral brachial amelia with facial clefts and holoprosencephaly. 3. 266–269. 1994. 7981864. 3. 10.1097/00019605-199407000-00015.
  7. Froster. U. G.. Briner. J.. Zimmerman. R.. Huch. R.. Huch. A.. Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus. Clinical Dysmorphology. 5. 171–174. 1996. 10.1097/00019605-199604000-00010. 8723568. 2. 38230173.
  8. Pierri. N. B.. Lecora. M.. Passariello. A.. Scala. I.. Andria. G.. New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia. American Journal of Medical Genetics. 91. 123–125. 2000. 10.1002/(SICI)1096-8628(20000313)91:2<123::AID-AJMG8>3.0.CO;2-N. 10748410. 2.

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