BBS21 is an autosomal recessive ciliopathy characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment ({1:Heon et al., 2016}; {2:Khan et al., 2016}).nnFor a g...
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Documentation for Bardet-Biedl syndrome 21 is limited due to the rarity of the condition, which affects fewer than a small number of individuals worldwide. This rarity has resulted in a lack of systematic clinical studies and comprehensive phenotype documentation. As research progresses, we hope to gain a better understanding of the condition and its clinical implications.
To navigate your care for Bardet-Biedl syndrome 21, it is important to seek specialists such as geneticists or metabolic disorder experts who have experience with ciliopathies. Genetic counseling may be beneficial for understanding the implications of the CFAP418 gene variant for you and your family. For additional resources, you can visit the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides information on rare diseases and potential support options.
Actionable guidance for navigating care for bardet-biedl syndrome 21
To navigate your care for Bardet-Biedl syndrome 21, it is important to seek specialists such as geneticists or metabolic disorder experts who have experience with ciliopathies. Genetic counseling may be beneficial for understanding the implications of the CFAP418 gene variant for you and your family. For additional resources, you can visit the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov, which provides information on rare diseases and potential support options.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
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.