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Mandibuloacral dysplasia

Medical condition From Wikipedia, the free encyclopedia

Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.[2]: 576 

Quick facts Other names, Specialty ...
Mandibuloacral dysplasia
Other namesMAD[1]
This condition is inherited in an autosomal recessive manner.
SpecialtyMedical genetics
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Types

More information Type, OMIM ...
Type OMIM Gene Locus
MADA 248370 LMNA[3] 1q21.2
MADB 608612 ZMPSTE24[4] 1p34
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