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Brachial amelia, cleft lip, and holoprosencephaly

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(Redirected from Amelia cleft lip palate hydrocephalus iris coloboma) Medical condition
Brachial amelia, cleft lip, and holoprosencephaly
SpecialtyMedical genetics
Preventionnone
Prognosisvaries
Frequencyvery 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. Approximately five cases of this disorder have been described in medical literature.

'Other signs include 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.

References

  1. ^ "MeSH Supplementary Concept Data". MeSH. Retrieved 2011-11-05.
  2. "Brachial amelia, cleft lip, and holoprosencephaly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-26.
  3. "Amelia cleft lip palate hydrocephalus iris coloboma (Concept Id: C1832434) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-26.
  4. "OMIM Entry – % 601357 - BRACHIAL AMELIA, CLEFT LIP, AND HOLOPROSENCEPHALY; ACLH". omim.org. Retrieved 2022-05-26.
  5. A. J., D. K. C.; Ebbin (1982). "Bilateral brachial amelia with cleft lip and palate and hydrocephaly: case report 82". Syndrome Identification. 8: 3–5.
  6. Thomas, M.; Donnai, D. (1994). "Bilateral brachial amelia with facial clefts and holoprosencephaly". Clinical Dysmorphology. 3 (3): 266–269. doi:10.1097/00019605-199407000-00015. PMID 7981864.
  7. Froster, U. G.; Briner, J.; Zimmerman, R.; Huch, R.; Huch, A. (1996). "Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus". Clinical Dysmorphology. 5 (2): 171–174. doi:10.1097/00019605-199604000-00010. PMID 8723568. S2CID 38230173.
  8. Pierri, N. B.; Lecora, M.; Passariello, A.; Scala, I.; Andria, G. (2000). "New case of bilateral upper limb amelia, facial clefts, and renal hypoplasia". American Journal of Medical Genetics. 91 (2): 123–125. doi:10.1002/(SICI)1096-8628(20000313)91:2<123::AID-AJMG8>3.0.CO;2-N. PMID 10748410.

External links

ClassificationD


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