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Al Gazali Sabrinathan Nair syndrome

From Wikipedia, the free encyclopedia
Al Gazali Sabrinathan Nair syndrome
Other namesAl Gazali-Nair syndrome, Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
SpecialtyMedical genetics
SymptomsOcular, skeletal and developmental abnormalities with facial dysmorphisms
Usual onsetBirth
DurationLife-long
CausesGenetic mutation
PreventionNone
FrequencyVery 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

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

References

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  1. ^ Sensory 5. "Al Gazali Sabrinathan Nair syndrome | Rare Diseases". RareGuru. Retrieved 2022-05-15.{{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}}: 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.