A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation is limited for chromosome 16p12.1 deletion syndrome due to its rarity and the lack of systematic clinical studies. The genetic basis of this condition has not been clearly identified, leading to challenges in clinical characterization and understanding the full range of symptoms and their implications. As research continues, there is hope for better insights and resources for affected individuals and families.
The clinical features of chromosome 16p12.1 deletion syndrome include delayed speech and language development (100% prevalence), global developmental delay (100%), abnormal facial shape (80-99%), seizures (30-79%), microcephaly (30-79%), hypotonia (30-79%), growth delay (30-79%), and atypical behavior (30-79%). Additionally, some individuals may have congenital heart defects, such as hypoplastic left heart syndrome (5-29%).
To navigate chromosome 16p12.1 deletion syndrome, consider consulting a developmental pediatrician or a geneticist with expertise in neurodevelopmental disorders. While there are currently no specific patient organizations or registries identified for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Genetic counseling may also be beneficial, particularly to discuss potential implications for family members.
Actionable guidance for navigating care for chromosome 16p12.1 deletion syndrome, 520kb
To navigate chromosome 16p12.1 deletion syndrome, consider consulting a developmental pediatrician or a geneticist with expertise in neurodevelopmental disorders. While there are currently no specific patient organizations or registries identified for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Genetic counseling may also be beneficial, particularly to discuss potential implications for family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation is limited for chromosome 16p12.1 deletion syndrome due to its rarity and the lack of systematic clinical studies. The genetic basis of this condition has not been clearly identified, leading to challenges in clinical characterization and understanding the full range of symptoms and their implications. As research continues, there is hope for better insights and resources for affected individuals and families.
The clinical features of chromosome 16p12.1 deletion syndrome include delayed speech and language development (100% prevalence), global developmental delay (100%), abnormal facial shape (80-99%), seizures (30-79%), microcephaly (30-79%), hypotonia (30-79%), growth delay (30-79%), and atypical behavior (30-79%). Additionally, some individuals may have congenital heart defects, such as hypoplastic left heart syndrome (5-29%).
To navigate chromosome 16p12.1 deletion syndrome, consider consulting a developmental pediatrician or a geneticist with expertise in neurodevelopmental disorders. While there are currently no specific patient organizations or registries identified for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Genetic counseling may also be beneficial, particularly to discuss potential implications for family members.
Actionable guidance for navigating care for chromosome 16p12.1 deletion syndrome, 520kb
To navigate chromosome 16p12.1 deletion syndrome, consider consulting a developmental pediatrician or a geneticist with expertise in neurodevelopmental disorders. While there are currently no specific patient organizations or registries identified for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Genetic counseling may also be beneficial, particularly to discuss potential implications for family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation is limited for chromosome 16p12.1 deletion syndrome due to its rarity and the lack of systematic clinical studies. The genetic basis of this condition has not been clearly identified, leading to challenges in clinical characterization and understanding the full range of symptoms and their implications. As research continues, there is hope for better insights and resources for affected individuals and families.
The clinical features of chromosome 16p12.1 deletion syndrome include delayed speech and language development (100% prevalence), global developmental delay (100%), abnormal facial shape (80-99%), seizures (30-79%), microcephaly (30-79%), hypotonia (30-79%), growth delay (30-79%), and atypical behavior (30-79%). Additionally, some individuals may have congenital heart defects, such as hypoplastic left heart syndrome (5-29%).
To navigate chromosome 16p12.1 deletion syndrome, consider consulting a developmental pediatrician or a geneticist with expertise in neurodevelopmental disorders. While there are currently no specific patient organizations or registries identified for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Genetic counseling may also be beneficial, particularly to discuss potential implications for family members.
Actionable guidance for navigating care for chromosome 16p12.1 deletion syndrome, 520kb
To navigate chromosome 16p12.1 deletion syndrome, consider consulting a developmental pediatrician or a geneticist with expertise in neurodevelopmental disorders. While there are currently no specific patient organizations or registries identified for this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Genetic counseling may also be beneficial, particularly to discuss potential implications for family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
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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