Cerebro-hepato-renal syndrome type Zellweger

Patients with this autosomal recessive hereditary
disease have a characteristic facial appearance
(1–4), extreme muscle weakness (5), and
a number of accompanying manifestations such
as calcified stippling of the joints on radiographs
(6), renal cysts (7, 8), and clouding of the
lens and cornea. The severe form of the disease
(type Zellweger) usually leads to death before
the age of one year.