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Items: 3

1.

Epiphyseal dysplasia, multiple, 6

Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints. [from GeneReviews]

MedGen UID:
436517
Concept ID:
C2675767
Disease or Syndrome
2.

Hereditary arterial and articular multiple calcification 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). [from OMIM]

MedGen UID:
347132
Concept ID:
C1859372
Disease or Syndrome
3.

Intervertebral disk calcification

The presence of abnormal calcium deposition of the intervertebral disk. [from HPO]

MedGen UID:
451050
Concept ID:
C0410607
Disease or Syndrome
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