Elejalde syndrome

Elejalde syndrome is an extremely rare autosomal recessive syndrome (only around 10 cases known) consisting of moderate pigment dilution, profound primary neurologic defects, no immune defects, and hair with metallic silvery sheen.[1][2]

Elejalde syndrome
Other namesGriscelli syndrome type 1
Elejalde syndrome is inherited in an autosomal recessive manner

It is associated with MYO5A.

See also

References
  1. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
  2. Cahali, Juliana Burihan; Fernandez, Solange Assuncion Villagra; Oliveira, Zilda Najjar Prado; Machado, Maria Cecilia da Mata Rivitti; Valente, Neusa Sakai; Sotto, Mirian Nacagami (2004). "Elejalde Syndrome: Report of a Case and Review of the Literature". Pediatric Dermatology. 21 (4): 479–482. doi:10.1111/j.0736-8046.2004.21414.x. ISSN 0736-8046. PMID 15283796.










Classification
External resources


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