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

Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome is a condition that affects multiple organ systems, most dental development, growth, auditory function, and cognitive abilities. It is characterized by abnormal tooth formation, short stature, hearing loss, and mild intellectual deficits. The condition has been observed in siblings born to consanguineous parents, suggesting an autosomal recessive mode of inheritance. Despite its complex presentation, it is considered very rare, affecting fewer than 1 in 1,000,000 individuals.

Individuals with this syndrome typically present with dental abnormalities such as dentinogenesis imperfecta and delayed tooth eruption, alongside facial dysmorphology. Short stature and sensorineural hearing loss are also common features. In addition, affected individuals experience mild intellectual deficits that can impact learning and cognitive development. Not all individuals experience every feature, and severity varies considerably.

Although a specific gene has not been identified for this condition, its occurrence in siblings born to consanguineous parents suggests an autosomal recessive inheritance pattern. This means that both parents are more likely to be carriers of the same genetic variant, which increases the risk of having an affected child. The precise genetic basis is still under investigation, and families are encouraged to seek genetic counseling to better understand the implications for family planning.

Currently, management focuses on supportive care and symptom management tailored to the individual. A multidisciplinary team approach is key, with dental care, audiological monitoring, growth and endocrinological evaluations, and developmental support working together to address the range of symptoms. Genetic counseling is recommended to help families understand the inheritance pattern and to guide family planning. Patients should discuss treatment options with their healthcare team to determine which therapies may be appropriate for their specific situation.

Outcomes vary depending on symptom severity, age at diagnosis, and access to specialized care. With current standards of care, many individuals lead productive lives while benefiting from individualized support, although the condition may present lifelong challenges. Severity and symptoms vary widely between individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families may find it helpful to connect with specialists and genetic counselors for guidance and support.