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Results 1 - 10 of 106 for Vascular skin abnormality
  1. Sturge-Weber syndrome 
    ... a condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes from birth. Sturge-Weber syndrome has ...
    https://medlineplus.gov/genetics/condition/sturge-weber-syndrome - Genetics
  2. SMAD3 gene 
    ... Dietz syndrome type III is characterized by abnormal blood vessels, skeletal and joint deformities, and skin abnormalities. Some of the mutations that cause this disorder ...
    https://medlineplus.gov/genetics/gene/smad3 - Genetics
  3. PIK3CA gene 
    ... on the skin over it, in addition to blood vessel, skin, and bone abnormalities. It is unknown whether individuals with these disorders ...
    https://medlineplus.gov/genetics/gene/pik3ca - Genetics
  4. Microcephaly-capillary malformation syndrome 
    ... by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).In people with microcephaly- ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  5. Rosacea 
    ... the body. Researchers believe that a combination of blood vessel abnormalities, abnormal inflammation, and a disruption of the skin barrier underlie the signs and symptoms of rosacea. ...
    https://medlineplus.gov/genetics/condition/rosacea - Genetics
  6. STING-associated vasculopathy with onset in infancy 
    ... amputation. Individuals with SAVI also have a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. Affected individuals may also experience ...
    https://medlineplus.gov/...ciated-vasculopathy-with-onset-in-infancy - Genetics
  7. Antiphospholipid syndrome 
    ... to their premature breakdown (hemolysis), and a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. In addition, affected individuals may ...
    https://medlineplus.gov/genetics/condition/antiphospholipid-syndrome - Genetics
  8. Familial thoracic aortic aneurysm and dissection 
    ... curvature of the spine (scoliosis), or a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin (dermal capillaries). However, these conditions ...
    https://medlineplus.gov/...l-thoracic-aortic-aneurysm-and-dissection - Genetics
  9. Microcephalic osteodysplastic primordial dwarfism type II 
    ... may develop areas of abnormally light or dark skin coloring (pigmentation).Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge ...
    https://medlineplus.gov/...teodysplastic-primordial-dwarfism-type-ii - Genetics
  10. EFEMP2 gene 
    ... ARCL1B), which is characterized by loose and sagging skin, a lung disease called emphysema, and severe abnormalities involving the heart and blood vessels.Variants in the EFEMP2 gene likely prevent cells ...
    https://medlineplus.gov/genetics/gene/efemp2 - Genetics
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