Metaphyseal chondrodysplasia Schmid type
Overview
Metaphyseal chondrodysplasia, Schmid type (MCDS), is a very rare inherited disorder characterized by short stature with abnormally short arms and legs (short-limbed dwarfism) and bowed legs (genu varum). Other physical characteristics may include outward "flaring" of the bones of the lower rib cage, lumbar lordosis, pain in the legs, and/or hip deformities in which the thigh bone is angled toward the center of the body (coxa vara). Such abnormalities of the legs and hips typically result in an unusual "waddling" walk (gait). MCDS is transmitted as an autosomal dominant trait.
Symptoms
The list of signs and symptoms mentioned in various sources for Metaphyseal chondrodysplasia Schmid type includes the 19 symptoms listed below: Short stature Short tubular bones Bowed tibia Waddling gait Coxa vara Genu varum Lower rib cage flaring Enlarged capital femoral epiphyses Femoral bowing Metaphyseal abnormality of distal femur Metaphyseal abnormality of proximal femur Proximal tibia Proximal fibula Distal radius Distal ulna Anterior cupping of ribs Splayed ribs Sclerosis of ribs Irregularity of acetabular roof Note that Metaphyseal chondrodysplasia Schmid type symptoms usually refers to various symptoms known to a patient, but the phrase Metaphyseal chondrodysplasia Schmid type signs may refer to those signs only noticable by a doctor.