Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata has the following symptoms:[4][1]

• Bilateral shortening of the femur, resulting in short legs
• Post-natal growth problems (deficiency)
• Cataracts
• Intellectual disability
• Possible seizures
• Possible infections of respiratory tract

This condition is a consequence of mutations in the PEX7 gene, the GNPAT gene (which is located on chromosome 1) or the AGPS gene. The condition is acquired in an autosomal recessive manner.[2]

ACAA1

The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition involves a defect in PEX7, whose product is involved in peroxisome assembly. There are 3 pathways that depend on peroxisomal biogenesis factor 7 activities, including:[4][5]

• AGPS (catalyzes plasmalogen biosynthesis)
• PhYH (catalyzes catabolism of phytanic acid)
• ACAA1 (catalyzes beta-oxidation of VLCFA - straight)

Peroxisome (this condition affects the peroxisome, causing peroxisome biogenesis disorders.)

The diagnosis of rhizomelic chondrodysplasia punctata can be based on genetic testing[6] as well as radiography results, plus a physical examination of the individual.[3]

Management of rhizomelic chondrodysplasia punctata can include physical therapy; additionally orthopedic procedures improved function sometimes in affected people.[4]

The prognosis is poor in this condition,[3] and most children die before the age of 10.[4] However, some survive to adulthood, especially if they have a non-classical (mild) form of RCDP.[4]

Children with classical, or severe, RCDP1 have severe developmental disabilities. Most of them achieve early developmental skills, such as smiling, but they will not develop skills expected from a baby older than six months (such as feeding themselves or walking).[4] By contrast, children with non-classical mild RCDP1 often learn to walk and talk.[4]

• Plasmalogen
• Peroxisomal disorder