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

Orpha code: 3018OMIM code: 277175

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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