Chondrodysplasia punctata Sheffield type

Overview

Type of disease: Rare conditions

Chondrodysplasia punctata Sheffield Type is a form of chondrodysplasia punctata, a group of diseases in which the common finding is calcium deposits near the ends of bones. The Sheffield type is considered to be a milder form and is characterized by specific facial features and calcification at the joints. Growth and development improve through childhood as the bony abnormalities improve. As adults, one can expect low to average intellectual abilities and height. Diagnosis is based on physical signs and symptoms as well as x-ray findings and family history. Chondrodysplasia punctata Sheffield type has been shown to be passed through families in an autosomal dominant manner. This means that only one copy of the changed gene is necessary to cause the condition. Each child of an affected individual has a 50% chance of inheriting the gene change and therefore the condition.

Studies have also shown that maternal intake of anticoagulant medications to prevent blood clots, low levels of vitamin K (also involved in clotting), and anti-seizure medications during pregnancy can cause similar findings. It is important to discuss all medications and family history with your doctor when pregnant or planning to become pregnant.

Although there is currently no cure for Chondrodysplasia punctata Sheffield Type, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by Chondrodysplasia punctata Sheffield Type. Support groups are also good resources of support and information.

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