Mandibuloacral dysplasia
Mandibuloacral dysplasia 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.
Types
| Type | OMIM | Gene | Locus |
| MADA | LMNA | 1q21.2 | |
| MADB | ZMPSTE24 | 1p34 |