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]
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{{
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: CS1 maint: numeric names: authors list (
link)
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)