Hereditary arterial and articular multiple calcification syndrome- MedGen UID:
- 347132
- •Concept ID:
- C1859372
- •
- Disease or Syndrome
Adult-onset calcification of the lower extremity arteries (CALJA), including the iliac, femoral, and tibial arteries, and hand and foot capsule joints, is an autosomal recessive condition that represents only the second mendelian disorder of isolated calcification (see generalized arterial calcification of infancy (GACI), 208000). Age of onset has been reported as early as the second decade of life, usually involving intense joint pain or calcification in the hands (St. Hilaire et al., 2011).
Arterial calcification, generalized, of infancy, 1- MedGen UID:
- 1631685
- •Concept ID:
- C4551985
- •
- Disease or Syndrome
Generalized arterial calcification of infancy (GACI) is characterized by infantile onset of widespread arterial calcification and/or narrowing of large and medium-sized vessels resulting in cardiovascular findings (which can include heart failure, respiratory distress, edema, cyanosis, hypertension, and/or cardiomegaly). Additional findings can include typical skin and retinal manifestations of pseudoxanthoma elasticum (PXE), periarticular calcifications, development of rickets after infancy, cervical spine fusion, and hearing loss. While mortality in infancy is high, survival into the third and fourth decades has occurred.