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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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  • AI vs. skin doctors: who diagnoses better?

    Knowledge-focused ENROLLING_BY_INVITATION

    This study looks at whether artificial intelligence (AI) can match a dermatologist's diagnosis when a general practitioner sends in photos and questions about a patient's skin condition. Researchers will compare the AI's diagnosis to the dermatologist's for about 1000 adults. The…

    Sponsor: Centre Hospitalier Universitaire de Nice • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:11 UTC

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