Zunich-Kaye syndrome

Zunich-Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare condition first described in 1983.^[1] It is also referred to as CHIME syndrome, after its main symptoms (colobomas, heart defects, ichthyosiform dermatosis, mental retardation, and either ear defects or epilepsy).^[2] It is a congenital^[3] syndrome with only a few cases studied and published.^[2] Associated symptoms range from things such as colobomas of the eyes, heart defects, ichthyosiform dermatosis, mental retardation, and ear abnormalities. Further symptoms that may be suggested include characteristic facies, hearing loss, and cleft palate. It is assumed the syndrome follows an autosomal recessive pattern of inheritance. Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.^[2]

References

Further reading

• Schnur, R. E.; Greenbaum, B. H.; Heymann, W. R.; Christensen, K.; Buck, A. S.; Reid, C. S. : Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. Am. J. Med. Genet. 72: 24-29, 1997. PMID 9295069
• Shashi, V.; Zunich, J.; Kelly, T. E.; Fryburg, J. S. : Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. J. Med. Genet. 32: 465-469, 1995. PMID 7666399
• Zunich, J.; Esterly, N. B.; Holbrook, K. A.; Kaye, C. I. : Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities. Arch. Derm. 121: 1149-1156, 1985. PMID 4037840
• Zunich, J.; Esterly, N. B.; Kaye, C. I. : Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Arch. Derm. 124: 1188-1189, 1988. PMID 3041916
• Zunich, J.; Kaye, C. I. : Additional case report of new neuroectodermal syndrome. (Letter) Am. J. Med. Genet. 17: 707-710, 1984. PMID 6711621