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1.

Autosomal recessive inherited pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a systemic disorder that affects the elastic tissue of the skin, the eye, and vascular system. Individuals most commonly present with angioid streaks of the retina found on routine eye examination or associated with retinal hemorrhage and/or characteristic papules in the skin. The most frequent cause of morbidity and disability in PXE is reduced vision due to complications of subretinal neovascularizations and macular atrophy. Other manifestations include premature gastrointestinal angina and/or bleeding, intermittent claudication of arm and leg muscles, stroke, renovascular hypertension, and cardiovascular complications (angina/myocardial infarction). Most affected individuals live a normal life span. [from GeneReviews]

MedGen UID:
698415
Concept ID:
C1275116
Disease or Syndrome
2.

Weak pulse

A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. [from HPO]

MedGen UID:
68554
Concept ID:
C0232132
Finding

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