The only known cause of this condition is a mutation in the<unk><unk>  chondrodysplasia punctata 1 (CDPX1) gene. Mutations in this gene result in a deficiency of arylsulfatase E. Only 50-60% of cases have been shown to have mutations in this gene and the cause of the remaining cases is not yet known.The CDPX1 gene is located on the short arm of the<unk>  chromosome <unk> p22.3) on the Crick (minus) strand. It is 33,614 bases in length. The mature protein has a molecular weight of 68 kiloDaltons. It is glycosylated and is located in the Golgi apparatus. Its activity may be inhibited by warfarin. It seems likely that warfarin induced embryotoxicity may be due at least in part to this inhibition. Brachytelephalangic chondrodysplasia punctata (BCDP) is the non-genetic, or environmentally produced, phenocopies associated with CDPX1. Causes of BCDP can also come from genetic effects, mainly due to mutations. Keutel syndrome, deficiency of vitamin K epoxide reductase subunit 1 (VKORC1), gamma-glutamyl carboxylase (GGCX),<unk> p contiguous deletion syndromes, and multiple sulfatase deficiency are all genetic conditions that are associated BCDP.
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