Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome

Orpha code: 3018OMIM code: 277175

Definition

A rare systemic disease characterized by progressive hyalinosis involving capillaries, arterioles and small veins of the digestive tract, kidneys, and retina, associated with idiopathic cerebral calcifications, manifesting with severe diarrhea (with rectal bleeding and malabsorption), nephropathy (with renal failure and systemic hypertension), chorioretinal scarring, and subarachnoid hemorrhage. Poikiloderma and premature greying of the hair may be additionally observed.

Disease data
Classification

Malformation syndrome

Synonyms
Rambaud-Gallian syndrome
Zespół Rambauda i Galliana
Zespół Rambauda, Galliana i Toucharda
Rambaud-Gallian-Touchard syndrome
ORPHA code
3018
OMIM code
277175
ICD10 code
E78.8
ICD11 code
-

No additional description.

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