Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for brachydactyly type A2 is limited primarily due to its rarity and the lack of systematic clinical studies. As this condition affects a small number of individuals, comprehensive research and characterization have not yet been established. The genetic basis was identified relatively recently, and ongoing studies are needed to better understand the full clinical spectrum of the condition.
To navigate brachydactyly type A2, consider consulting a geneticist or a specialist in congenital hand differences for a thorough evaluation. Genetic counseling can provide insights into the inheritance pattern and implications for family members. While there are currently no specific patient organizations for BDA2, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, if you are interested in research opportunities, inquire about any ongoing studies related to congenital malformations.
Actionable guidance for navigating care for brachydactyly type A2
To navigate brachydactyly type A2, consider consulting a geneticist or a specialist in congenital hand differences for a thorough evaluation. Genetic counseling can provide insights into the inheritance pattern and implications for family members. While there are currently no specific patient organizations for BDA2, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, if you are interested in research opportunities, inquire about any ongoing studies related to congenital malformations.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.