Al Gazali Sabrinathan Nair syndrome, also known as Al Gazali-Nair syndrome, is a very rare multi-systemic genetic disorder which is characterized by developmental delay, facial dysmorphy, and skeletal and ocular abnormalities. This disorder was first described in two siblings that came from consanguineous parents. No new cases have been described since 1994.
Presentation People with this disorder show the following signs and symptoms:
Long eyelashes Frontal bossing Low frontal hairline Hypertelorism Medial eyebrow flare Low nasal bridge Low-set large ears Osteogenesis imperfecta Widespread developmental delay Wormian bones Epilepsy Blue sclerae Optic degeneration Retinal detachment
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