Elejalde syndrome
(Redirected from Acrocephalopolydactyly)
| Elejalde syndrome | |
|---|---|
| Other names | Griscelli syndrome type 1, Acrocephalopolydactyly |
 | |
| Elejalde syndrome is inherited in an autosomal recessive manner | |
| Specialty | 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.[1][2] The changes to hair and skin pigmentation are associated with altered melanosome trafficking.[2]
It is associated with MYO5A.[citation needed]
See also
[edit]References
[edit]- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ^ a b 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. S2CID 7836037.