Mandibuloacral Dysplasia
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.:576
Types
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| MADA | 248370 | LMNA | 1q21.2 |
| MADB | 608612 | ZMPSTE24 | 1p34 |
See also
- Hereditary sclerosing poikiloderma
- Skin lesion