Synonym: Cross syndrome, Kramer Syndrome
MIM: 257800
Inheritance: autosomal recessive, with many cases associated with consanguinity.
Clinical features:
(1) cutaneous hypopigmentation
(2) hair that is whitish grey, silver gray, white, or silver
(3) ocular hypopigmentation
(4) deep mental retardation and/or developmental delay
(5) neurologic defects (spastic tetraplegia, athetoid movements, Dandy Walker malformation, other)
(6) growth retardation
(7) variable malformations of internal organs (urinary tract, heart, etc)
De Jong and Fryns report that a mixed pattern of hair pigmentation is a useful finding for making the diagnois.
