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).

Rhizomelic Chondrodysplasia Punctata (RCDP) is a rare autosomal recessive peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, congenital contractures, characteristic ocular involvement, severe intellectual disability and spasticity.

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.

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...

We are using a kind of simulation called Rapid Cycle Deliberate Practice (RCDP), which allows learners to "try again” and gives you the opportunity for perfect practice. An example of this would be a batting cage. I’d like to speak briefly about confidentiality and audio & video recording within the simulation space.

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).

RCDP has been clinically described for over 50 years, and was named based on characteristic X-ray observations of rhizomelia (shortening of the long bones closest to the body) and chondrodysplasia punctata (stippling pattern seen within the bones).

Rhizomelic chondrodysplasia punctata (RCDP) 是一组由缩醛磷脂合成缺陷引起的过氧化物酶体疾病。RCDP 患者表现为根茎型矮身材、特征性点状骨骺钙化、先天性白内障、严重智力障碍、癫痫发作和面部畸形。

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性或隐性遗传模式下基因变异所导致的各种类型，其中因为过氧化体(Peroxisomal)异常所致的RCDP type 1 ...

GitHub is where RCDP-OK23 builds software.