14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation for chromosome 14q11-q22 deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This scarcity hinders the ability to conduct large-scale clinical studies, leaving many aspects of the condition poorly characterized. As research progresses, more information may become available, but currently, the understanding of this syndrome is still developing.
Key clinical features of chromosome 14q11-q22 deletion syndrome include agenesis of the corpus callosum (30-79% prevalence), reduced eye contact (30-79%), microcephaly (30-79%), and severe global developmental delay (30-79%). Additionally, hypotonia, feeding difficulties, and congenital heart defects such as patent foramen ovale and ventricular septal defect are observed in 5-29% of cases. These features highlight the need for multidisciplinary care to address developmental and physical challenges.
To navigate chromosome 14q11-q22 deletion syndrome, consider consulting a developmental pediatrician or a neurologist with experience in genetic syndromes. While there are currently no specific patient organizations dedicated to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Genetic counseling may also be beneficial for understanding the sporadic nature of this condition and discussing family planning options. Participating in research studies or registries, when available, can also contribute to a better understanding of the syndrome.
Actionable guidance for navigating care for chromosome 14q11-q22 deletion syndrome
To navigate chromosome 14q11-q22 deletion syndrome, consider consulting a developmental pediatrician or a neurologist with experience in genetic syndromes. While there are currently no specific patient organizations dedicated to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Genetic counseling may also be beneficial for understanding the sporadic nature of this condition and discussing family planning options. Participating in research studies or registries, when available, can also contribute to a better understanding of the syndrome.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for chromosome 14q11-q22 deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This scarcity hinders the ability to conduct large-scale clinical studies, leaving many aspects of the condition poorly characterized. As research progresses, more information may become available, but currently, the understanding of this syndrome is still developing.
Key clinical features of chromosome 14q11-q22 deletion syndrome include agenesis of the corpus callosum (30-79% prevalence), reduced eye contact (30-79%), microcephaly (30-79%), and severe global developmental delay (30-79%). Additionally, hypotonia, feeding difficulties, and congenital heart defects such as patent foramen ovale and ventricular septal defect are observed in 5-29% of cases. These features highlight the need for multidisciplinary care to address developmental and physical challenges.
To navigate chromosome 14q11-q22 deletion syndrome, consider consulting a developmental pediatrician or a neurologist with experience in genetic syndromes. While there are currently no specific patient organizations dedicated to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Genetic counseling may also be beneficial for understanding the sporadic nature of this condition and discussing family planning options. Participating in research studies or registries, when available, can also contribute to a better understanding of the syndrome.
Actionable guidance for navigating care for chromosome 14q11-q22 deletion syndrome
To navigate chromosome 14q11-q22 deletion syndrome, consider consulting a developmental pediatrician or a neurologist with experience in genetic syndromes. While there are currently no specific patient organizations dedicated to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Genetic counseling may also be beneficial for understanding the sporadic nature of this condition and discussing family planning options. Participating in research studies or registries, when available, can also contribute to a better understanding of the syndrome.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation for chromosome 14q11-q22 deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This scarcity hinders the ability to conduct large-scale clinical studies, leaving many aspects of the condition poorly characterized. As research progresses, more information may become available, but currently, the understanding of this syndrome is still developing.
Key clinical features of chromosome 14q11-q22 deletion syndrome include agenesis of the corpus callosum (30-79% prevalence), reduced eye contact (30-79%), microcephaly (30-79%), and severe global developmental delay (30-79%). Additionally, hypotonia, feeding difficulties, and congenital heart defects such as patent foramen ovale and ventricular septal defect are observed in 5-29% of cases. These features highlight the need for multidisciplinary care to address developmental and physical challenges.
To navigate chromosome 14q11-q22 deletion syndrome, consider consulting a developmental pediatrician or a neurologist with experience in genetic syndromes. While there are currently no specific patient organizations dedicated to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Genetic counseling may also be beneficial for understanding the sporadic nature of this condition and discussing family planning options. Participating in research studies or registries, when available, can also contribute to a better understanding of the syndrome.
Actionable guidance for navigating care for chromosome 14q11-q22 deletion syndrome
To navigate chromosome 14q11-q22 deletion syndrome, consider consulting a developmental pediatrician or a neurologist with experience in genetic syndromes. While there are currently no specific patient organizations dedicated to this condition, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Genetic counseling may also be beneficial for understanding the sporadic nature of this condition and discussing family planning options. Participating in research studies or registries, when available, can also contribute to a better understanding of the syndrome.
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.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
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