This condition occurs almost exclusively in males. The mutation may be spontaneous or inherited from the mother. The typical clinical features are: * flat nasal tip * short columella * maxillary hypoplasia * involvement of terminal phalanges * stippled chondrodystrophy Biochemical confirmation The activity of arylsulfatase E can be measured with the substrate 4-methylumbelliferyl sulfate.
X-linked recessive chondrodysplasia punctata
Rhizomelic chondrodysplasia punctata
Congenital muscular dystrophy
Ullrich congenital muscular dystrophy
Platyspondylic lethal skeletal dysplasia, Torrance type
Fukuyama congenital muscular dystrophy
LMNA-related congenital muscular dystrophy
Congenital distal spinal muscular atrophy