Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome

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Synonyms: Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome

A rare malformative syndrome with dentinogenesis imperfecta characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth and delayed eruption bulbous crowns long and tapered roots and progressive root canal obliteration of the permanent dentition associated with proportionate short stature sensorineural hearing loss mild intellectual disability and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis mild platyspondyly and cone-shaped epiphyses have also been reported.

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 Data version June 2024

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