A novel mutation in CDMP1 causes brachydactyly type C with “angel-shaped phalanx”. A genotype-phenotype correlation in the mutational spectrum

► ASPED is characterized by brachydactyly and angel-shaped phalanges. ► Mutations in CDMP1 produce a wide spectrum of skeletal dysplasias. ► ASPED and BDC are caused by mutations in the CDMP1 gene. ► BDC is shortening of short middle phalanges of the second, third and fifth fingers.