Mandibuloacral dysplasia
Encyclopedia
Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicals, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.
Types include:
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| MADA | LMNA LMNA Lamin A/C also known as LMNA is a protein that in humans is encoded by the LMNA gene. Lamin A/C belongs to the lamin family of proteins.-Function:... |
1q21.2 | |
| MADB | ZMPSTE24 ZMPSTE24 ZMPSTE24 is a human gene. The protein encoded by this gene is a metallopeptidase. It is involved in the processing of Lamin A.... |
1p34 |