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Rambaud Gallian syndrome

MedGen UID:
1377760
Concept ID:
C4510224
Disease or Syndrome
Synonyms: Rambaud Gallian Touchard syndrome; Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome
SNOMED CT: Rambaud Gallian syndrome (724002003); Rambaud Gallian Touchard syndrome (724002003); Retinal ischemia, digestive tract small vessel hyalinosis, diffuse cerebral calcification syndrome (724002003)

Definition

Syndrome that is characterized by progressive hyalinosis involving capillaries and often arterioles and small veins of the digestive tract and kidneys and idiopathic cerebral calcifications. It has been described in three sisters born to non-consanguineous parents. All three patients also had poikiloderma and graying hair, as well as severe diarrhea, rectal bleeding, malabsorption and subarachnoid hemorrhage. [from SNOMEDCT_US]

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