Medicine:Al Gazali Sabrinathan Nair syndrome
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| Al Gazali Sabrinathan Nair syndrome | |
|---|---|
| Other names | Al Gazali-Nair syndrome, Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome |
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| 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
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
- ↑ Sensory 5. "Al Gazali Sabrinathan Nair syndrome | Rare Diseases" (in en). https://rareguru.com/library/disease/261/al-gazali-sabrinathan-nair-syndrome.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Al Gazali Nair syndrome" (in en). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=373&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2773&Disease(s)/group%20of%20diseases=Al-Gazali-Nair-syndrome&title=Al-Gazali-Nair-syndrome&search=Disease_Search_Simple.
- ↑ "Error: no
|title=specified when using {{Cite web}}". https://www.malacards.org/card/al_gazali_sabrinathan_nair_syndrome. - ↑ "Al Gazali Sabrinathan Nair Syndrome" (in en). http://www.dovemed.com/diseases-conditions/al-gazali-sabrinathan-nair-syndrome/.
- ↑ "Al Gazali Sabrinathan Nair syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/587/al-gazali-sabrinathan-nair-syndrome.
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