Al Gazali Sabrinathan Nair syndrome
| 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]
Presentation
[edit]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
References
[edit]- ^ Sensory 5. "Al Gazali Sabrinathan Nair syndrome | Rare Diseases". RareGuru. Retrieved 2022-05-15.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Nair syndrome". www.orpha.net. Retrieved 2022-05-15.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Al Gazali Sabrinathan Nair Syndrome". www.malacards.org. Retrieved 2022-05-15.
- ^ "Al Gazali Sabrinathan Nair Syndrome". DoveMed. Retrieved 2022-05-15.
- ^ "Al Gazali Sabrinathan Nair syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |