Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disabi...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for chromosome 13q14 deletion syndrome is limited due to its rarity, with few systematic studies conducted on affected individuals. The sporadic nature of the condition complicates the establishment of a clear genetic basis and comprehensive clinical characterization. As the understanding of this syndrome evolves, ongoing research may provide further insights into its complexities and management.
Key clinical features of chromosome 13q14 deletion syndrome include umbilical hernia, growth delay, hearing impairment, and inguinal hernia, all of which are consistently present in affected individuals. Additional features include patent foramen ovale, agenesis of the corpus callosum, ventricular septal defect, overlapping toes, and a single transverse palmar crease. Cryptorchidism is also frequently observed. These features highlight the syndrome's impact on multiple body systems, particularly the developmental and structural aspects.
To navigate chromosome 13q14 deletion syndrome, consider consulting a geneticist or a pediatrician with expertise in developmental disorders. They can provide insights into the condition and potential management strategies. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, exploring opportunities for participation in natural history studies could provide further insights into the condition's progression and management.
Actionable guidance for navigating care for chromosome 13q14 deletion syndrome
To navigate chromosome 13q14 deletion syndrome, consider consulting a geneticist or a pediatrician with expertise in developmental disorders. They can provide insights into the condition and potential management strategies. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, exploring opportunities for participation in natural history studies could provide further insights into the condition's progression and management.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for chromosome 13q14 deletion syndrome is limited due to its rarity, with few systematic studies conducted on affected individuals. The sporadic nature of the condition complicates the establishment of a clear genetic basis and comprehensive clinical characterization. As the understanding of this syndrome evolves, ongoing research may provide further insights into its complexities and management.
Key clinical features of chromosome 13q14 deletion syndrome include umbilical hernia, growth delay, hearing impairment, and inguinal hernia, all of which are consistently present in affected individuals. Additional features include patent foramen ovale, agenesis of the corpus callosum, ventricular septal defect, overlapping toes, and a single transverse palmar crease. Cryptorchidism is also frequently observed. These features highlight the syndrome's impact on multiple body systems, particularly the developmental and structural aspects.
To navigate chromosome 13q14 deletion syndrome, consider consulting a geneticist or a pediatrician with expertise in developmental disorders. They can provide insights into the condition and potential management strategies. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, exploring opportunities for participation in natural history studies could provide further insights into the condition's progression and management.
Actionable guidance for navigating care for chromosome 13q14 deletion syndrome
To navigate chromosome 13q14 deletion syndrome, consider consulting a geneticist or a pediatrician with expertise in developmental disorders. They can provide insights into the condition and potential management strategies. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, exploring opportunities for participation in natural history studies could provide further insights into the condition's progression and management.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for chromosome 13q14 deletion syndrome is limited due to its rarity, with few systematic studies conducted on affected individuals. The sporadic nature of the condition complicates the establishment of a clear genetic basis and comprehensive clinical characterization. As the understanding of this syndrome evolves, ongoing research may provide further insights into its complexities and management.
Key clinical features of chromosome 13q14 deletion syndrome include umbilical hernia, growth delay, hearing impairment, and inguinal hernia, all of which are consistently present in affected individuals. Additional features include patent foramen ovale, agenesis of the corpus callosum, ventricular septal defect, overlapping toes, and a single transverse palmar crease. Cryptorchidism is also frequently observed. These features highlight the syndrome's impact on multiple body systems, particularly the developmental and structural aspects.
To navigate chromosome 13q14 deletion syndrome, consider consulting a geneticist or a pediatrician with expertise in developmental disorders. They can provide insights into the condition and potential management strategies. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, exploring opportunities for participation in natural history studies could provide further insights into the condition's progression and management.
Actionable guidance for navigating care for chromosome 13q14 deletion syndrome
To navigate chromosome 13q14 deletion syndrome, consider consulting a geneticist or a pediatrician with expertise in developmental disorders. They can provide insights into the condition and potential management strategies. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov may offer valuable information. Additionally, exploring opportunities for participation in natural history studies could provide further insights into the condition's progression and management.
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. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
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