Rhizomelic Chondrodysplasia Punctata Type 1
What Your Test Results Mean:
Carriers typically show no symptoms of RCDP1; however, carriers are at an increased risk of having a child with RCDP1. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.
RCDP1 is an inherited condition that impairs the body’s ability to make plasmalogen, an important component of cell membranes. This disorder causes abnormal development of many body parts, leading to skeletal abnormalities, distinctive facial features, severe intellectual disability, cataracts, and respiratory problems. Most children with this condition grow and develop more slowly than other children their age, and do not achieve developmental milestones such as sitting without support, feeding themselves, or speaking in phrases. Affected individuals may also be prone to seizures and recurrent respiratory infections. Most people with RCPD1 have a shortened lifespan and do not live into adulthood.
How the Genetics Works:
RCDP1 is an autosomal recessive disorder caused by pathogenic variants in the PEX7 gene. In general, individuals have two copies of the PEX7 gene. Carriers of RCDP1 have a single variant in one copy of the PEX7 gene while individuals with RCDP1 have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.
Talk to a Genetic Counselor
As a Clarity client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, click the link below or call(866) 661-7966Discuss Your Screening Results