From Surf Wiki (app.surf) — the open knowledge base

CHIME syndrome

Field	Value
name	CHIME syndrome
synonyms	Zunich neuroectodermal syndrome, Zunich–Kaye syndrome
image	Image:autorecessive.svg
caption	CHIME syndrome has an autosomal recessive pattern of inheritance.
causes	Congenital

CHIME syndrome, also known as Zunich–Kaye syndrome or Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. The acronym CHIME is based on its main symptoms: colobomas, heart defects, ichthyosiform dermatosis, intellectual disability, and either ear defects or epilepsy. It is a congenital syndrome with only a few cases studied and published.

Symptoms and signs

Associated symptoms range from things such as colobomas of the eyes, heart defects, ichthyosiform dermatosis, intellectual disability, and ear abnormalities. Further symptoms that may be suggested include characteristic facies, hearing loss, and cleft palate.

Genetics

CHIME syndrome is considered to have an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two copies of the gene, one from each parent, are required to inherit the disorder. The parents of an individual with autosomal recessive disorder both carry one copy of the defective gene, but usually do not have the disorder.

Treatment

Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.

References

Bibliography

References

(1983). "New syndrome of congenital ichthyosis with neurologic abnormalities". Am. J. Med. Genet..
[http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=3474 OrphaNet entry]
"Birth Disorder Information Directory – Z".

Info: Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

autosomal-recessive-disorders rare-diseases syndromes-affecting-the-eye genodermatoses genetic-disorders-with-omim-but-no-gene syndromes-affecting-the-heart syndromes-with-intellectual-disability

Want to explore this topic further?

Ask Mako anything about CHIME syndrome — get instant answers, deeper analysis, and related topics.

Research with Mako

Free with your Surf account

Content sourced from Wikipedia, available under CC BY-SA 4.0.

This content may have been generated or modified by AI. CloudSurf Software LLC is not responsible for the accuracy, completeness, or reliability of AI-generated content. Always verify important information from primary sources.

Report