rhizomelic chondrodysplasia punctata

Introduction

Peroxisomal biogenesis disorder distinct from Zwellenger spectrum disorders.

Pathology

• failure of protein import into the peroxisomal membrane or or peroxisomal matrix

Genetics

• genetically heterogeneous with at least 14 distinct complementation groups

More general terms

• chondrodysplasia punctata
• peroxisomal biogenesis disorder

More specific terms

• rhizomelic chondrodysplasia punctata, type 1 (complementation group 11)
• rhizomelic chondrodysplasia punctata, type 14 (complementation group J)
• rhizomelic chondrodysplasia punctata, type 2; peroxisomal dihydroxyacetonephosphate acyltransferase deficiency
• rhizomelic chondrodysplasia punctata, type 3