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Aplasia cutis-myopia syndrome

MONDO:0010988

Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (brother and sister). Transmission is autosomal dominant.

Also known as: Gershoni-Baruch-Leibo syndrome, aplasia cutis myopia, aplasia cutis congenita, high myopia, and cone-rod dysfunction

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

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Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Human disease (14) Hereditary skin disorder (5) Aplasia cutis congenita (2) Disease of genetic or genomic mechanism (2) Dermis disorder (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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  • Skin deep: european study probes the hidden emotional toll of skin diseases

    Knowledge-focused Not yet recruiting

    This study looks at how people with skin conditions (like eczema, psoriasis, or skin cancer) manage stress, feel lonely, and bounce back from challenges. Researchers will compare 375 adults with and without skin disease across 15 European countries using questionnaires. The goal …

    Phase: NA • Sponsor: University Hospital, Brest • Aim: Knowledge-focused

    Last updated Jun 27, 2026 13:06 UTC

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