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
Mandibuloacral dysplasia | |
---|---|
Other names | MAD[1] |
Type | OMIM | Gene | Locus |
---|---|---|---|
MADA | 248370 | LMNA[3] | 1q21.2 |
MADB | 608612 | ZMPSTE24[4] | 1p34 |