mandibuloacral dysplasia (MAD)
Jump to navigation
Jump to search
Epidemiology
rare
Genetics
- autosomal recessive
- homozygous mutation within the LMNA gene
- associated with defects in ZMPSTE24 (type B lipodystrophy)
Clinical manifestations
- postnatal onset of progressive osteolysis of the clavicles & distal phalanges
- progressive mandibular hypoplasia
- results in dental crowding
- thin & beaked nose
- alopecia
- stiff joints
- cutaneous atrophy
- types A or B patterns of lipodystrophy
- type B is characterized by generalized fat loss
More general terms
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: https://www.ncbi.nlm.nih.gov/pubmed/13129702