Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome?
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The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
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Curing single-gene disorders
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