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Facial telangiectasia in butterfly midface distribution

MedGen UID:
428540
Concept ID:
CN004956
Finding
Synonyms: Butterfly facial telangiectasia
 
HPO: HP:0005598

Definition

Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGFacial telangiectasia in butterfly midface distribution

Conditions with this feature

Bloom syndrome
MedGen UID:
2685
Concept ID:
C0005859
Congenital Abnormality
Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, highly characteristic sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined (and little studied) learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn is very rare in all national and ethnic groups but is relatively less rare in Ashkenazi Jews.
Glomerulonephritis with sparse hair and telangiectases
MedGen UID:
374835
Concept ID:
C1841989
Disease or Syndrome

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