dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Findings
No curated finding names dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is characterized by the association of dentinogenesis imperfecta, delayed tooth eruption, facial dysmorphology, small stature, sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to consanguineous parents. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0019102), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Dentinogenesis imperfectaHPOHP:0000703
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)