Congenital skeletal abnormalities can occur: multiple
epiphyseal dysplasia, and bilateral fourth metatarsal shortening. Progressive
problems appear secondarily: ocular (retinitis pigmentosa, myosis, ptosis,
cataract, nystagmus), neurological (chronic polyneuritis, cerebellar signs, ataxia,
anosmia, nerve deafness, hypotonia, hemiparesis), cardiac (electrocardiographic
changes, congestive heart failure), and cutaneous (ichthyosis). Other features
include renal failure, amyotrophy, and respiratory distress.