Rhizomelic chondrodysplasia punctata
Encyclopedia
Rhizomelic chondrodysplasia punctata is a rare, developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia
), seizures, recurrent respiratory tract infections, and congential cataracts.
Rhizomelia
Rhizomelia refers to either a disproportion of the length of the proximal limb, such as the shortened limbs of achondroplasia, or some other disorder of the hip or shoulder....
), seizures, recurrent respiratory tract infections, and congential cataracts.
Types
- Type 1 (RCDP1) is associated with PEX7 mutations . These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
- Type 2 (RCDP2) is associated with DHAPAT mutations
- Type 3 (RCDP3) is associated with AGPSAGPSAGPS can refer to:* Assisted GPS* Alkylglycerone phosphate synthase...
mutations