Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
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 http: //www.orphadata.org. Data version October 2023.
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Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.