Al Gazali Sabrinathan Nair syndrome (original) (raw)

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Medical condition

Al Gazali Sabrinathan Nair syndrome
Other names	Al Gazali-Nair syndrome, Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Specialty	Medical genetics
Symptoms	Ocular, skeletal and developmental abnormalities with facial dysmorphisms
Usual onset	Birth
Duration	Life-long
Causes	Genetic mutation
Prevention	None
Frequency	Very rare, only 2 cases reported in medical literature

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.[1] No new cases have been described since 1994.[2][3][4]

People with this disorder show the following signs and symptoms:[5]

• 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

1. ^ Sensory 5. "Al Gazali Sabrinathan Nair syndrome | Rare Diseases". RareGuru. Retrieved 2022-05-15.{{[cite web](/wiki/Template:Cite%5Fweb "Template:Cite web")}}: CS1 maint: numeric names: authors list (link)
2. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Nair syndrome". www.orpha.net. Retrieved 2022-05-15.{{[cite web](/wiki/Template:Cite%5Fweb "Template:Cite web")}}: CS1 maint: numeric names: authors list (link)
3. ^ "Al Gazali Sabrinathan Nair Syndrome". www.malacards.org. Retrieved 2022-05-15.
4. ^ "Al Gazali Sabrinathan Nair Syndrome". DoveMed. Retrieved 2022-05-15.
5. ^ "Al Gazali Sabrinathan Nair syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.