Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many parts of the body. It is characterized by shortening of the …

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections …

Nov 30, 2023 · Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder associated with a deficiency of ether-type lipids called plasmalogens that affect the development of many parts …

Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called …

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive condition that occurs in both males and females and often affects people who have no known family history of the …

Nov 16, 2001 · Classic (severe) RCDP1 is characterized by proximal shortening of the humerus (rhizomelia) and to a lesser degree the femur, punctate calcifications in cartilage with …

肢近端型点状软骨发育不良第一型 (Rhizomelic Chondrodysplasia Punctata Type 1,简称RCDP type 1)为一群因不同缺陷基因 (heterogenous)所致的疾病，包括了常染色体或性染色体上的显 …

RCDP is an ultra-rare pediatric genetic disorder with an estimated prevalence of 1 in 100,000. The disease results from a plasmalogen lipid deficiency caused by mutations in genes involved in …

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal …

肢近端型點狀軟骨發育不良 (Rhizomelic Chondrodysplasia Punctata,簡稱RCDP)，為因不同缺陷基因所致的過氧化體異常疾病。 其中最常見的是過氧化體生成因子7基因 (peroxisome …