Definition: a chondrodysplasia characterized by round flat facies, enlargement and stiffness of joints, joint contractures, scoliosis, myopia with retinal detachment, cleft palate, deafness, and characteristic radiographic findings of metaphysial flaring of long bones, flattening, and coronal clefting of vertebrae; autosomal dominant inheritance, caused by mutation in the type II collagen gene (COL2A1) on chromosome 12q.
Disclaimer: This site is designed to offer information for general educational purposes only. The health information furnished on this site and the interactive responses are not intended to be professional advice and are not intended to replace personal consultation with a qualified physician, pharmacist, or other healthcare professional. You must always seek the advice of a professional for questions related to a disease, disease symptoms, and appropriate therapeutic treatments.
Search Stedman's Medical Dictionary
Examples: glitazone, GI cocktail, etc.
© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.