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mandibuloacral dysplasia (MAD)
Epidemiology: rare
Genetics:
1) autosomal recessive
2) homozygous mutation within the LMNA gene
3) associated with defects in ZMPSTE24 (type B lipodystrophy)
Clinical manifestations:
1) postnatal onset of progressive osteolysis of the clavicles & distal phalanges
2) progressive mandibular hypoplasia
-> results in dental crowding
3) thin & beaked nose
4) alopecia
5) stiff joints
6) cutaneous atrophy
7) types A or B patterns of lipodystrophy
- type B is characterized by generalized fat loss
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
- Novelli G & D'Apice MR
The strange case of the "lumper" lamin A/C gene and human
premature ageing.
Trends in Mol Med 9(9):370, 2003
PMID: 13129702