Rhizomelic Chondrodysplasia Punctata (RCDP)
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Brittany Schroader, Abby Lenhart, Elaine Lonnemann, WikiSysop and Kim Jackson
Definition/Description[edit | edit source]
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. The severity of the decreased plasmalogens corresponds with the severity of the disease and abnormalities seen on MRI of the brain. Also, the patients with the milder phenotype have significantly higher levels of plasmalogens in erythrocytes.
There are 3 genetic subtypes. Type 1 consists of individuals with homozygous or compound heterozygous mutations in the PEX7 gene. This is the largest group. Type 2 is secondary to mutations in the GNPAT gene. Type 3 forms by mutations in the AGPS gene. Life expectancy is considerably reduced.
Prevalence[edit | edit source]
Estimated 1 in 100,000; RCDP 1 is most common subtype.
Characteristics/Clinical Presentation[edit | edit source]
These patients present with severe and symmetrical shortening of the proximal long bones (rhizomelia), calcifications in cartilage with epiphyseal and metaphyseal abnormalities, bilateral cataracts, spasticity, and severe growth and psychomotor delays. Also it is common to see congenital contractures, and dysmorphic facial characteristics. Often born with birth weight, length, and head circumference lower than normal.
Associated Co-morbidities[edit | edit source]
- Epilepsy
- Bilateral cortical cataracts
- Congenital heart disease
- Pulmonary hypoplasia
- Recurrent respiratory tract infections
- Contractures
- Cerebral and cerebellar atrophy with enlargement of the ventricles and CSF spaces
- Ureteropelvic junction obstruction
- G-tubes common due to aspiration and inadequate nutrition
Medications[edit | edit source]
- Due to the severity of respiratory problems individuals with RCDP require the influenza vaccine and RSV monoclonal antibody.
- There has been no systematic study for oral plasmalogen supplementation to determine clinical benefits.
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
add text here
Etiology/Causes[edit | edit source]
add text here
Systemic Involvement[edit | edit source]
add text here
Medical Management (current best evidence)[edit | edit source]
add text here
Physical Therapy Management (current best evidence)[edit | edit source]
add text here
Differential Diagnosis[edit | edit source]
add text here
Case Reports/ Case Studies[edit | edit source]
add links to case studies here (case studies should be added on new pages using the case study template)
Resources
[edit | edit source]
add appropriate resources here
Recent Related Research (from Pubmed)[edit | edit source]
see tutorial on Adding PubMed Feed
Failed to load RSS feed from http://www.ncbi.nlm.nih.gov/entrez/eutils/erss.cgi?rss_guid=1FQ_Hz0ueKYkijNCTg2wHJlY0F1ov82MKEOHm9Uf-xqDWMGEot|charset=UTF-8|short|max=10: Error parsing XML for RSS
References[edit | edit source]
see adding references tutorial.
