Terminal osseous dysplasia - pigmentary defects (Q84034)

Terminal osseous dysplasia - pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis, which appear a few months after birth. In the majority of patients, the bone dysplasia is limited to the hands and feet but shortening and/or bowing of the bones of the arms and legs has been reported in severe cases.