Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome

Orpha code: 2773OMIM code:

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.

Disease data
Classification

Malformation syndrome

Synonyms
Al Gazali-Nair syndrome
Zespół Al Gazali i Naira
ORPHA code
2773
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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