Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd t...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding brachydactyly-syndactyly syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity results in a lack of systematic clinical studies and comprehensive phenotype characterization. Additionally, the genetic basis was only recently identified, leading to ongoing efforts in clinical characterization.
To navigate your condition effectively, consider consulting with a geneticist who specializes in congenital limb malformations, as they can provide insights into the implications of HOXD13 variants. While there are no identified patient organizations specifically for this syndrome, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Genetic counseling may also be beneficial for understanding potential implications for family members. Keep an eye out for any future research studies or registries that may emerge as awareness of the condition grows.
Actionable guidance for navigating care for brachydactyly-syndactyly syndrome
To navigate your condition effectively, consider consulting with a geneticist who specializes in congenital limb malformations, as they can provide insights into the implications of HOXD13 variants. While there are no identified patient organizations specifically for this syndrome, you can access resources from the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov. Genetic counseling may also be beneficial for understanding potential implications for family members. Keep an eye out for any future research studies or registries that may emerge as awareness of the condition grows.
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.