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Elejalde syndrome

Field	Value
name	Elejalde syndrome
synonyms	Griscelli syndrome type 1, Acrocephalopolydactyly
image	Autosomal recessive - en.svg
caption	Elejalde syndrome is inherited in an autosomal recessive manner
field	Medical genetics

Elejalde syndrome or neuroectodermal melanolysosomal disease is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound central nervous system dysfunction, no immune defects, and hair with a metallic silvery sheen. The changes to hair and skin pigmentation are associated with altered melanosome trafficking.

It is associated with MYO5A.

References

James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. {{ISBN. 0-7216-2921-0.
(2004). "Elejalde Syndrome: Report of a Case and Review of the Literature". Pediatric Dermatology.

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.

disturbances-of-human-pigmentation cytoskeletal-defects rare-syndromes

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