congenital autosomal recessive small-platelet thrombocytopenia
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.
MONDO:0100241
inherited thrombocytopenia
is_a
CARST
exact