Zunich-kaye syndrome Q82.9

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

CHIME; CHIME Syndrome; Neuroectodermal syndrome; Neuroectodermal Syndrome Zunich

Definition
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Zunich-Kaye syndrome, also known as "Neuroectodermal Syndrome Zunich", is a very rare, autosomal recessive, congenital ichthyosiform disease. The disease is also known as CHIME syndrome, an acronym for the main symptoms of the syndrome: "colobomas, heart defects, ichthyosiform dermatosis, mental retardation and either ear defect or epilepsia".

Clinical features
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Ichthyosiform skin changes, colobomas of the eyes, heart defects, hearing loss, cerebral seizures, mental retardation. The teeth of those affected may be widely spaced and have square shapes.

Therapy
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Isotretinoin improves the ichthyosis of the skin.

Literature
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  1. Zunich J, Kaye CI (1983) New syndrome of congenital ichthyosis with neurologic abnormalities. At J Med Genet 15: 331-335

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Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020