Elejalde syndrome

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]

Other namesGriscelli syndrome type 1, Acrocephalopolydactyly

SpecialtyMedical genetics

Quick facts Other names, Specialty ...

Elejalde syndrome
Other names	Griscelli syndrome type 1, Acrocephalopolydactyly
Elejalde syndrome is inherited in an autosomal recessive manner
Specialty	Medical genetics

Close

It is associated with MYO5A.^{[citation needed]}