Gene affected: SUMF1 (sulfatase modifying factor 1)
Chromosome location: 3p26.1
Gene product: formylglycine-generating enzyme (FGE)
Function: sulfatase activation
The onset is usually during infancy.
Key manifestations:
(1) developmental delay
(2) impaired verbal communication
(3) impaired ambulation
(4) abnormal myelination and cerebral atrophy
Variable findings include:
(1) ichthyosis or other skin changes
(2) orthopedic complications (kyphosis, scoliosis, decreased range of motion in joints)
(3) microcephaly
(4) hydrocephalus
(5) hepatosplenomegaly
(6) cardiac malformations
(7) progressive swallowing dysfunction
(8) respiratory problems (pulmonary hypertension, pneumonia, other)
(9) ataxia or tremor
(10) peripheral neuropathy
(11) abnormal hearing
(12) abnormal vision
(13) urinary incontinence
(14) seizures
(15) behavioral problems
(16) dysmorphic facial features
Death may occur during adolescence. Mild disease has a later onset and longer survival.
