brachydactyly type E2

Brachydactyly type E2 is a condition characterized by abnormalities in the development of the fingers and toes, with some individuals also experiencing dental anomalies. It is caused by a mutation in the PTHLH gene, which plays a critical role in bone growth and development. The condition is inherited in an autosomal dominant manner, meaning that just one copy of the altered gene can lead to the disorder. Although prevalence data are not specifically available, not all individuals with this mutation exhibit the same features, and symptom severity varies considerably.

The clinical presentation of brachydactyly type E2 commonly involves dental features such as delayed eruption of teeth and oligodontia, which are reported in approximately 5 to 29% of affected individuals. In many cases, these dental anomalies may be the initial signs that prompt further clinical evaluation. That not all individuals experience all these features, and the severity and combination of symptoms can vary widely.

This condition is caused by a mutation in the PTHLH gene, which is essential for normal bone and dental development. The PTHLH protein helps regulate the growth and differentiation of cartilage and bone, and disruption of its function leads to the characteristic skeletal changes seen in this disorder. Brachydactyly type E2 is inherited in an autosomal dominant pattern, indicating that a single copy of the mutated gene is sufficient to cause the condition. Even within the same family, the severity and specific symptoms can differ, highlighting the variable expressivity associated with this mutation.

Currently, management of brachydactyly type E2 focuses on supportive care and symptom management, as there are no specifically approved treatments for this condition. Interventions may include specialized dental care to address delayed tooth eruption and missing teeth, as well as monitoring by a multidisciplinary team to manage any skeletal concerns. Genetic counseling is recommended to help affected individuals and families understand the inheritance pattern and discuss future planning. Patients should discuss treatment options with their healthcare team to determine which management strategies are most appropriate for their situation.

Outcomes for brachydactyly type E2 vary widely among affected individuals, and the course of the condition may differ from person to person. With appropriate supportive care—including dental interventions and regular follow-ups—a good quality of life is achievable. It is important to recognize that while some individuals may experience more noticeable dental and skeletal effects, others may have milder presentations. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition, as well as genetic counselors who can provide additional guidance on inheritance and long-term management.