Patients present with profound developmental
delay associated with agenesis of the corpus callosum, microcephaly,
hypotonia, seizures, and, occasionally, severe hypoplasia of the cerebellar
vermis. Cortical dysplasia and schizencephaly have been described. One of
the main features of this syndrome is a combined immunodeficiency with
decreased levels of T4 lymphocytes and serum IgG. This is a result of
profound hypoplasia of the thymus and the peripheral lymphoid tissue.
Activity of the natural killer cells, however, was reported to be normal.
Recurrent infections, particularly pulmonary infections (partially also
related to recurrent aspirations) and chronic mucocutaneous candidiasis, are
a consequence of this immunodeficiency. The disease is also characterized by
hypopigmentation of skin, hair, and retina. Cataract, nystagmus, unilateral
or bilateral cleft lip/palate, micrognathia, and postnatal growth
retardation are other, but inconstant, features. Cardiac involvement can
occur in the form of endocardial fibroelastosis and/or progressive
cardiomyopathy with dilatation or hypertrophy of the left ventricle. None of
the reported patients has survived beyond age 3 years. Death from cardiac
failure has been described, but most often death is the result of
bronchopneumonia.