mandibuloacral dysostosis

man·dib·u·lo·ac·ral dys·os·to·sis

[MIM*248370]
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.

man·dib·u·lo·ac·ral dys·os·to·sis

(man-dibyū-lō-akrăl disos-tōsis) [MIM*248370]
Disorder characterized by hypoplastic mandible, dental crowding, acroosteolysis, stiff joints, and atrophy of skin of hands and feet.