Skip to Content

mandibuloacral dysostosis


Definition: an autosomal recessive disorder, caused by a mutation in the gene LMNA encoding lamin A/C on 1 q. characterized by hypoplastic mandible, dental crowding, acroosteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple sutural bones are present.

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.
© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.