Rhizomelic chondrodysplasia punctata (RCDP, OMIM #215100) is a rare peroxisomal disorder that influences the development of many organs. Some of the key features are severe intellectual disability, spasticity, cataracts, facial dysmorphology, skeletal abnormalities and respiratory problems.
On the skeletal survey, the hallmark findings are:
rhizomelic shortening of the extremities
punctate cartilaginous calcifications, which mostly resolve after the age of 1 year
coronal clefting of the vertebral column
There are three subtypes of RCDP with a similar clinical presentation, the distinction is based on the underlying genetic cause. In this specific case the diagnosis RCDP type 1 was genetically confirmed. Both parents are carrier of the genetic defect.