Congenital autosomal recessive small-platelet thrombocytopenia

Orpha code: 566192OMIM code:

Definition

A rare isolated constitutional thrombocytopenia characterized by neonatal onset of small-platelet thrombocytopenia with significantly increased bleeding tendency. Bleeding symptoms include petechial rash, mucosal bleeding, and heavy menstrual bleeding. Growth and development are normal, and there is no increased susceptibility to infections.

Disease data
Classification

Disease

Synonyms
CARST
CARST
ORPHA code
566192
OMIM code
-
ICD10 code
D69.4
ICD11 code
-

No additional description.

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