Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

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Synonyms: Al Gazali-Nair syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay osteogenesis imperfecta presence of wormian bones seizures ocular abnormalities (blue sclerae optic atrophy retinal detachment) and dysmorphic facial features (including frontal bossing low anterior hairline medial flare of the eyebrows long eyelashes hypertelorism depressed nasal bridge and low-set large ears). There have been no further descriptions in the literature since 1994.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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