Orphanet: Osteogenesis imperfecta retinopathy seizures intellectual disability syndrome
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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.

ORPHA:2773

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
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 587
  • MedDRA: -

  A summary on this disease is available in Deutsch (2006) Italiano (2006) Français (2021) Nederlands (2021)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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