Elejalde syndrome 1

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. [Source: Wikipedia ]

Synonyms
Acrocephalopolydactylous dysplasia
May Cause
Craniosynostosis
Gigantism
Omphalocele
Acrocephalopolydactylous dysplasia