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tendinous calcinosis arthropathy & progeroid features (TCAPF)
Genetics:
- autosomal recessive
- associated with defect in LMNA gene
Clinical manifestations:
- arthropathy affecting predominantly the distal femora & proximal tibia in the knees with tendinous calcifications
- progeroid appearance
a) pinched nose
b) micrognathia
c) cataract
d) alopecia
- generalized lipodystrophy
- sclerodermatous skin
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 611618
References
OMIM :accession 611618