2023年11月30日 · 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 of the body. RCDP is characterized by disproportionately short stature which is most noticeable in the upper arms and legs (rhizomelia).

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

Researchers are working to determine how problems with plasmalogen synthesis lead to the specific signs and symptoms of rhizomelic chondrodysplasia punctata. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in …

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 bones in the upper arms and thighs (rhizomelia).

2001年11月16日 · Classic (severe) RCDP1 is characterized by proximal shortening of the humerus (rhizomelia) and to a lesser degree the femur, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata, or CDP), coronal clefts of the vertebral bodies, and cataracts that are usually present at birth or appear in t...

RCDP is a rare, inherited disorder characterized by skeletal abnormalities, distinctive facial features, and severe developmental delays. Let us look into the symptoms, causes, diagnosis, prognosis, and treatment options for RCDP.

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 biogenesis factor 7; PEX7)異常所致的RCDP type 1；其餘可能致病的基因還有GNPAT基因 (RCDP type 2)、AGPS基因 (RCDP type 3)以及PEX5基因 (RCDP type 5)，這些基因皆和過氧化體的形成與結構有關。 而其在臨床表徵上，有別於另一種過氧化體異常疾病；趙葦格氏症 (Zellweger syndrome)。

过氧化体异常的RCDP type 1，疾病特征为患者常表现身材矮小、伴随肢体痉挛 (spasticity)及挛缩 (contractures)、外观异常及严重的智能障碍。 患者近侧肢体 (Rhizomelic)也就是上肢的上臂肱骨和下肢的大腿股骨明显较短、此外常表现严重的脊椎侧弯及慢性肺部感染，以及软骨发生伴随有骨骨后 (epiphyseal)及干端骨 (metaphyseal)异常的点状石灰化 (意即点状软骨发育不良 (chondrodysplasia punctata)），经骨骼X光摄影可发现骨骨后点状显影 (epiphyseal stippling) …

Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder found in infants from genetic origin. It is caused by deficient activity of peroxisomal enzymes. In patients with RCDP, their bodies cannot synthesize plasmalogens due to a deficiency of acyl-CoA. Another biochemical characteristic of RCDP is high levels of phytanic acid in the body.

Rhizomelic chondrodysplasia punctata (RCDP) prevalence is estimated to be lower than 1/100,000. The disorder is pan ethnic. Presentation is at birth with severe joint contractures; cataracts may be present or appear in the first few months of life. Respiratory distress and feeding difficulties are commonly observed after birth.