This syndrome is characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria.
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 limited documentation surrounding calvarial doughnut lesions-bone fragility syndrome is largely due to its extreme rarity, affecting fewer than one in a million individuals. This rarity results in a lack of systematic clinical studies and comprehensive phenotypic characterization. Additionally, the genetic basis was only recently identified, which has hindered further clinical characterization.
To navigate your journey with calvarial doughnut lesions-bone fragility syndrome, it is advisable to seek a geneticist or a specialist in hereditary bone disorders. They can provide insights into genetic testing and the implications of the SGMS2 gene variant. Additionally, consider reaching out to resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Genetic counseling may also be beneficial for understanding inheritance patterns and family planning.
Actionable guidance for navigating care for calvarial doughnut lesions-bone fragility syndrome
To navigate your journey with calvarial doughnut lesions-bone fragility syndrome, it is advisable to seek a geneticist or a specialist in hereditary bone disorders. They can provide insights into genetic testing and the implications of the SGMS2 gene variant. Additionally, consider reaching out to resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov for further information and support. Genetic counseling may also be beneficial for understanding inheritance patterns and 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.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.