Oculoskeletodental syndrome

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Oculoskeletodental syndrome

Synonyms: Oculo-skeleto-dental syndrome

A rare ciliopathy characterized by congenital cataract with secondary glaucoma developmental delay short stature multiple skeletal abnormalities (spinal deformities limb anomalies delayed bone age) dental anomalies (oligodontia enamel defects) dysmorphic facial features (including coarse facies low hairline epicanthal folds flat and broad nasal bridges and retrognathia) and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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Oculoskeletodental syndrome?

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