Al Gazali Sabrinathan Nair syndrome
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Other namesAl Gazali-Nair syndrome, Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
SymptomsOcular, skeletal and developmental abnormalities with facial dysmorphisms
Usual onsetBirth
| 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]
