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: C4302824
MeSH: -
GARD: 587
MedDRA: -

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Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

ORPHA:2773

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

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