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Congenital autosomal recessive small-platelet thrombocytopenia

MONDO:0035441

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.

Also known as: CARST

2 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Hereditary disease (176) Hematologic disorder (170) Thrombocytopenia (70) Blood platelet disease (17) Human disease (14) Disease of genetic or genomic mechanism (2) Inherited thrombocytopenia (2) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Completed 1
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  • Scientists hunt for hidden genetic causes of rare bleeding disorder

    Knowledge-focused Completed

    This study investigates inherited thrombocytopenias, rare conditions where low platelet counts cause bleeding problems. About half of patients have an unknown genetic cause. Researchers aim to identify new disease genes and build a lab-grown bone marrow model to test how well dru…

    Sponsor: Fondazione IRCCS Policlinico San Matteo di Pavia • Aim: Knowledge-focused

    Last updated Jul 01, 2026 00:00 UTC

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