OMIM ID:
Microcephaly, Congenital Cataracts, and Psoriasiform Dermatitis
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
Congenital cataracts are usually present. No further description is available. Some individuals have a chronic blepharitis.
Systemic Features
Small stature, microcephaly, and developmental delay are important features. The skin in early life, even in infancy, may have an psoriasiform dermatitis that waxes and wanes in some patients while others have only dry skin. Chronic arthralgias are sometimes present leading to joint contractures especially in the lower extremities. Skeletal maturation is delayed and there may be cognitive deficits.
Serum total cholesterol levels are generally low but triglycerides are in the normal range. Serum levels of IgE and IgA may be elevated. This condition results from defects in the cholesterol synthesis pathway.
Genetics
Inheritance
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.