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Cohen syndrome

MONDO:0008999

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.

Also known as: Cohen syndrome, cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness, COH1, Chs1, Chs1, formerly, Coh, hypotonia, obesity, and prominent incisors, pepper syndrome

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

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Broader categories

Disease (618) Nervous system disorder (217) Hereditary disease (172) Hematologic disorder (160) Immune system disorder (140) Neurodevelopmental disorder (125) Intellectual disability (115) Neutropenia (29) Syndromic disease (24) Human disease (14)
Trials to join now! 36 Not yet recruiting 7 Not yet finished but already full! 7 Completed 24 Terminated 1
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  • Can extra care after transplant help older patients live better?

    Disease control Terminated

    This study tested two extra care programs—supportive palliative care and clinical management of other health issues—for older or frail patients who had a donor stem cell transplant. The goal was to see if these programs could improve quality of life and survival compared to stand…

    Phase: PHASE2, PHASE3 • Sponsor: Fred Hutchinson Cancer Center • Aim: Disease control

    Last updated Jun 27, 2026 08:10 UTC

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