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LMNA-related cardiocutaneous progeria syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.
Mondo Term and Equivalent IDs
MONDO:0018203:  LMNA-related cardiocutaneous progeria syndrome
Orphanet:363618: 
UMLS:CN204714: