brachydactyly type D

Brachydactyly type D (BDD) is a genetic condition characterized by short and broad terminal phalanges of the thumbs and big toes. This condition is caused by mutations in the HOXD13 gene located on chromosome 2q31.1. The inheritance pattern is autosomal dominant, meaning that a single copy of the mutated gene can cause the condition. While the exact prevalence of BDD is not well characterized, it is recognized as a distinct form of brachydactyly. Further clinical features have not been systematically documented, indicating a need for more comprehensive studies.

The documentation for brachydactyly type D is limited due to its rarity and the recent identification of its genetic basis. Conditions like BDD often affect fewer individuals, which can hinder extensive clinical studies and systematic documentation of symptoms and management strategies. As research continues, more information may become available to better understand and manage this condition.

Currently, there are no orphan drug designations for brachydactyly type D; however, there is one active clinical trial investigating aspects of the condition. Participation in clinical trials may provide access to new insights and potential treatments. For more information, you can search for ongoing studies at ClinicalTrials.gov using the URL: https://clinicaltrials.gov/search?cond=brachydactyly%20type%20D.