FaCD Online Syndrome Fact Sheet

Last updated: 22 May 2008

Name: CHIME syndrome

Synonym: Zunich Neuroectodermal Syndrome

Mode of Inheritance: AR

Tumor features (possible)

leukemia, acute lymphoblastic (ALL)

Non-tumor features

brachiocephaly
cerebral atrophy
cleft palate
developmental delay/mental deficiency/mental retardation
eye, coloboma of the
hearing loss, conductive
heart, congenital defect
helices, overfolding
high birth weight
hypertelorism
ichthyosiform rash
nasal bridge, broad
palmoplantar hyperkeratosis
philtrum, short
seizures

Non-tumor features (possible)

polythelia (supernumerary nipples)

Comment

This is a very rare disorder characterized by Colobomas of the eye, congenital Heart defects, migratory Ichthyosiform rash of the skin, Mental retardation and Ear defects (overfolding helices and conductive deafness)(CHIME). Epilepsy, neonatal macrosomia and craniofacial dysmorphisms are additional features[1]. Schnur et al [2] reported a girl with this disorder who developed acute lymphoblastic leukemia.

References

[1] Shashi V, Zunich J, Kelly TE, Fryburg JS. Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. Journal of medical genetics 1995; 32(6):465-9.
[2] Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS. Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. American journal of medical genetics 1997; 72(1):24-9.