Autosomal recessive form of omodysplasia.
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.
The documentation for autosomal recessive omodysplasia is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the ability to conduct systematic clinical studies and gather comprehensive phenotype data. Additionally, the genetic basis was only recently identified, leading to ongoing efforts in clinical characterization.
To navigate autosomal recessive omodysplasia, consider seeking a geneticist or a specialist in genetic disorders who can provide insights into genetic counseling and testing for GPC6 variants. Although no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies or registries may also be beneficial for tracking the condition's progression and connecting with others affected.
Actionable guidance for navigating care for autosomal recessive omodysplasia
To navigate autosomal recessive omodysplasia, consider seeking a geneticist or a specialist in genetic disorders who can provide insights into genetic counseling and testing for GPC6 variants. Although no patient organizations are currently identified, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies or registries may also be beneficial for tracking the condition's progression and connecting with others affected.
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
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.