/rhizomelic chondrodysplasia punctata type 1

rhizomelic chondrodysplasia punctata type 1

Rare Disease

MONDO:0008972

Also Known As

PBD9PEX7 rhizomelic chondrodysplasia punctataPbd9RCDP1Rcdp1peroxisome biogenesis disorder 9rhizomelic chondrodysplasia punctata caused by mutation in PEX7rhizomelic chondrodysplasia punctata type 1rhizomelic chondrodysplasia punctata, type 1chondrodysplasia punctata, rhizomelic formchondrodystrophia calcificans punctata

Definition

A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.