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.

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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.

Progeroid Syndrome Patients with ZMPSTE24 Deficiency Could Benefit When Treated with Rapamycin and Dimethylsulfoxide

Nathan, eight, and Bennett, five, from Springfield Township, Philadelphia, have an incredibly rare type of progeria, called Mandibuloacral Dysplasia Type B (MAD).

OLD BEFORE THEIR TIME; These special children are making the most of their childhood - although they've lost years of it to a rare condition, progeria, which makes them..

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

A novel mutation in limb girdle muscular dystrophy

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).

The Biological Basis of Hutchinson-Gilford Syndrome (HGS): Relationship to Mutagens in the Lamin A/C Gene (LMNA) and to Other Known Laminopathies. (Fellowships, Grants, & Awards)