Learn About Metaphyseal Chondrodysplasia Schmid Type

What is the definition of Metaphyseal Chondrodysplasia Schmid Type?
Metaphyseal chondrodysplasia, Schmid type (MCDS) is a type of skeletal disorder in which there is abnormal bone formation at the end of the long bones (metaphyses). Symptoms include short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Additional signs and symptoms may include lumbar lordosis, leg pain, joint pain, hip deformities, and an outward flaring of the bones of the lower rib cage. As a result of the hip and leg findings, individuals with this condition may have an unusual walk that resembles a waddle. The condition is often mistaken for vitamin D-deficient rickets. MCDS is caused by a genetic change in one of the collagen genes known as COL10A1. The genetic change may be inherited from a parent or may happen for the first time in an affected individual. The MCDS genetic change is passed on in an autosomal dominant manner.
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What are the alternative names for Metaphyseal Chondrodysplasia Schmid Type?
  • Metaphyseal chondrodysplasia Schmid type
  • MCDS
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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