Murk Jansen metaphyseal chondrodysplasia is a highly uncommon autosomal dominant skeletal abnormality characterized by short-limbed low height caused by significant metaphyseal abnormalities frequently diagnosed in infancy. Consequently, afflicted people have extremely small legs, arms, and height, which generally manifests throughout infancy. Other bones in the body, notably those in the feet and hands, might be influenced by bone growth and abnormal cartilage. A mutation in the PTH1R gene causes Murk Jansen metaphyseal. A spontaneous mutation causes most instances, and heredity is autosomal dominant.
Furthermore, newborns with Murk Jansen metaphyseal chondrodysplasia might have distinctive facial deformities as well as various skeletal anomalies. Children who are affected might display gradual rigidity and inflammation of multiple joints, as well as an odd waddling gait and crouching posture. Affected people may also ultimately acquire unusually hardened bones, particularly in the back of the skull, resulting in blindness and hearing loss in certain circumstances.
