Aplasia cutis-myopia syndrome is characterized by the association of aplasia cutis congenita with high myopia, congenital nystagmus and cone-rod dysfunction. It has been described in two siblings (bro...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding aplasia cutis-myopia syndrome is largely 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 documentation. As a relatively newly recognized condition, further research is needed to fully understand its clinical features and genetic basis.
To navigate aplasia cutis-myopia syndrome, consider consulting with a geneticist who specializes in rare genetic disorders. They can provide insights into genetic counseling and potential testing options for family members. Although no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring local genetic counseling services can help in understanding inheritance patterns and implications for family planning.
Actionable guidance for navigating care for aplasia cutis-myopia syndrome
To navigate aplasia cutis-myopia syndrome, consider consulting with a geneticist who specializes in rare genetic disorders. They can provide insights into genetic counseling and potential testing options for family members. Although no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring local genetic counseling services can help in understanding inheritance patterns and implications for family planning.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding aplasia cutis-myopia syndrome is largely 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 documentation. As a relatively newly recognized condition, further research is needed to fully understand its clinical features and genetic basis.
To navigate aplasia cutis-myopia syndrome, consider consulting with a geneticist who specializes in rare genetic disorders. They can provide insights into genetic counseling and potential testing options for family members. Although no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring local genetic counseling services can help in understanding inheritance patterns and implications for family planning.
Actionable guidance for navigating care for aplasia cutis-myopia syndrome
To navigate aplasia cutis-myopia syndrome, consider consulting with a geneticist who specializes in rare genetic disorders. They can provide insights into genetic counseling and potential testing options for family members. Although no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring local genetic counseling services can help in understanding inheritance patterns and implications for family planning.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding aplasia cutis-myopia syndrome is largely 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 documentation. As a relatively newly recognized condition, further research is needed to fully understand its clinical features and genetic basis.
To navigate aplasia cutis-myopia syndrome, consider consulting with a geneticist who specializes in rare genetic disorders. They can provide insights into genetic counseling and potential testing options for family members. Although no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring local genetic counseling services can help in understanding inheritance patterns and implications for family planning.
Actionable guidance for navigating care for aplasia cutis-myopia syndrome
To navigate aplasia cutis-myopia syndrome, consider consulting with a geneticist who specializes in rare genetic disorders. They can provide insights into genetic counseling and potential testing options for family members. Although no specific patient organizations are identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Additionally, exploring local genetic counseling services can help in understanding inheritance patterns and implications for family planning.
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.
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