mandibuloacral dysplasia

man·dib·u·lo·ac·ral dys·pla·si·a

(man-dib'yū-lō-ak'răl dis-plā'zē-ă)
An autosomal recessive disorder characterized by dental crowding, acroosteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple wormian bones are present.

Cavallazzi,

C., Italian physician.
Cavallazzi syndrome - a syndrome of mandibular hypoplasia, acroosteolysis, stiff joints, and skin atrophy of the hands and feet. Synonym(s): mandibuloacral dysplasia

man·dib·u·lo·ac·ral dys·pla·si·a

(man-dib'yū-lō-ak'răl dis-plā'zē-ă)
Disorder characterized by dental crowding, acroosteolysis, stiff joints, and atrophy of skin of hands and feet.
References in periodicals archive ?
Patients with progeroid syndromes such as mandibuloacral dysplasia, type B (MADB) and restrictive dermopathy (RD) harbor mutations in zinc metalloproteinase (ZMPSTE24), an enzyme essential for posttranslational proteolysis of prelamin A to form mature lamin A.
Nathan, eight, and Bennett, five, from Springfield Township, Philadelphia, have an incredibly rare type of progeria, called Mandibuloacral Dysplasia Type B (MAD).
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
muscular dystrophy (Muchir et al., 2000), Charcot Marie-Tooth disorder type 2 (De Sandre-Giovanni et al., 2002), and mandibuloacral dysplasia (Novelli et al., 2002).