A number of skeletal disorders are classified as chondrodysplasia punctata, and there is considerable clinical and genetic heterogeneity (see also rhizomelic chondrodysplasia punctata  in this database for an autosomal recessive form) which has yet to be worked out. The disorder described here is an X-linked dominant disorder with lethality in males. It results from a mutation in the EBP gene (Xp11.23-p11.22) causing difficulty in converting lanosterol to cholesterol. The diagnosis can be confirmed by finding increased plasma accumulation of precursors of sterols 8(9)-cholestenol and 8-dehydrocholesterol. Rare severely affected males with hypotonia, seizures, cerebellar atrophy, agenesis of the corpus callosum, and developmental delays have been reported.
The X-linked recessive (CDPX1;302950), autosomal dominant tibia-metacarpal (118651), and humero-metacarpal types are not associated with cataracts.