2010/7/1 -Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body.
According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means "having disproportionately short or ...
2023/11/30 -Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder associated with a deficiency of ether-type lipids called plasmalogens that affect ...
2021/6/18 -Rhizomelic dwarfism is a type of dwarfism where the dominant feature is proximal (i.e. femoral and humeral) limb shortening. On this page:.
Rhizomelic limb shortening with dysmorphic features (RLSDF) is characterized by rhizomelic shortening of the extremities, predominantly of the upper limbs, and ...
Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an inherited disease that causes small physical size, certain characteristic bone problems, ...
Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, ...
Disease definition. A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and ...
Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal ...
Rhizomelic chondrodysplasia punctata (RCDP) type 1 is associated with a defect in PEX7, which causes plasmalogen deficiency and phytanic acid accumulation.