Pale implies a faintness or absence of color, which may be natural when applied to things, the pale blue of a violet, but when used to refer to the human face usually means an unnatural and often temporary absence of color, as arising from sickness or sudden emotion: pale cheeks.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
Autosomal recessive. A pattern of inheritance in which both copies of an autosomal gene must be abnormal for a genetic condition or disease to occur. An autosomal gene is a gene that is located on one of the autosomes or non-sex chromosomes.