"Zellweger spectrum disorder (ZSD)"
"rhizomelic chondrodysplasia punctata type 1 (RCDP) - a type of chondrodysplasia punctata"
"rhizomelic chondrodysplasia punctata type 1 (RCDP) - a type of chondrodysplasia punctata"
"The peroxisome biogenesis disorders are caused by mutations in the pexin (PEX) genes, which encode peroxins that allow for appropriate peroxisome biogenesis 2."
"rhizomelic chondrodysplasia punctata type 1 (RCDP) - a type of chondrodysplasia punctata"
"The peroxisome biogenesis disorders are caused by mutations in the pexin (PEX) genes, which encode peroxins that allow for appropriate peroxisome biogenesis 2."
"There are two main groups 1:"
"Generally, the Zellweger spectrum disorders present in infancy or childhood and are characterised by crainofacial dysmorphism, neurological abnormalities, jaundice and developmental delay 1."
"Rhizomelic chondrodysplasia punctata type 1 presents with shortening of the proximal humerus and femur, with punctate calcification of the epiphyseal cartilage 3. Dysplasia of the epi- and metaphysis, early-onset cataracts, seizures and intellectual disability are also common 3."