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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Disease definition

A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.


Classification level: Disorder
  • Synonym(s):
    • Al Gazali-Nair syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • ICD-11: LD24.KY
  • OMIM: -
  • UMLS: C4302824
  • MeSH: -
  • GARD: 587
  • MedDRA: -
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