17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding chromosome 17q23.1-q23.2 deletion syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the availability of large-scale clinical studies and comprehensive genetic research, making it challenging to gather extensive data on the condition. Furthermore, the genetic basis of the syndrome has not yet been identified, which complicates the understanding of its etiology and clinical management.
The clinical picture of chromosome 17q23.1-q23.2 deletion syndrome includes several notable features. Global developmental delay is universally observed, affecting cognitive and motor skills. Physical manifestations often include microcephaly, which occurs in 30-79% of cases, and postnatal growth retardation. Limb abnormalities are prevalent, with long fingers and toes seen in 80-99% of individuals. Additionally, heart defects, particularly patent ductus arteriosus and pulmonary arterial hypertension, are noted in a significant portion of affected individuals.
For individuals affected by chromosome 17q23.1-q23.2 deletion syndrome, seeking a geneticist with expertise in rare genetic disorders may provide valuable insights and management strategies. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, consider exploring opportunities for participation in research studies or registries that focus on rare genetic conditions, which may help advance understanding of this syndrome.
Actionable guidance for navigating care for chromosome 17q23.1-q23.2 deletion syndrome
For individuals affected by chromosome 17q23.1-q23.2 deletion syndrome, seeking a geneticist with expertise in rare genetic disorders may provide valuable insights and management strategies. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, consider exploring opportunities for participation in research studies or registries that focus on rare genetic conditions, which may help advance understanding of this syndrome.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding chromosome 17q23.1-q23.2 deletion syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the availability of large-scale clinical studies and comprehensive genetic research, making it challenging to gather extensive data on the condition. Furthermore, the genetic basis of the syndrome has not yet been identified, which complicates the understanding of its etiology and clinical management.
The clinical picture of chromosome 17q23.1-q23.2 deletion syndrome includes several notable features. Global developmental delay is universally observed, affecting cognitive and motor skills. Physical manifestations often include microcephaly, which occurs in 30-79% of cases, and postnatal growth retardation. Limb abnormalities are prevalent, with long fingers and toes seen in 80-99% of individuals. Additionally, heart defects, particularly patent ductus arteriosus and pulmonary arterial hypertension, are noted in a significant portion of affected individuals.
For individuals affected by chromosome 17q23.1-q23.2 deletion syndrome, seeking a geneticist with expertise in rare genetic disorders may provide valuable insights and management strategies. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, consider exploring opportunities for participation in research studies or registries that focus on rare genetic conditions, which may help advance understanding of this syndrome.
Actionable guidance for navigating care for chromosome 17q23.1-q23.2 deletion syndrome
For individuals affected by chromosome 17q23.1-q23.2 deletion syndrome, seeking a geneticist with expertise in rare genetic disorders may provide valuable insights and management strategies. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, consider exploring opportunities for participation in research studies or registries that focus on rare genetic conditions, which may help advance understanding of this syndrome.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding chromosome 17q23.1-q23.2 deletion syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the availability of large-scale clinical studies and comprehensive genetic research, making it challenging to gather extensive data on the condition. Furthermore, the genetic basis of the syndrome has not yet been identified, which complicates the understanding of its etiology and clinical management.
The clinical picture of chromosome 17q23.1-q23.2 deletion syndrome includes several notable features. Global developmental delay is universally observed, affecting cognitive and motor skills. Physical manifestations often include microcephaly, which occurs in 30-79% of cases, and postnatal growth retardation. Limb abnormalities are prevalent, with long fingers and toes seen in 80-99% of individuals. Additionally, heart defects, particularly patent ductus arteriosus and pulmonary arterial hypertension, are noted in a significant portion of affected individuals.
For individuals affected by chromosome 17q23.1-q23.2 deletion syndrome, seeking a geneticist with expertise in rare genetic disorders may provide valuable insights and management strategies. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, consider exploring opportunities for participation in research studies or registries that focus on rare genetic conditions, which may help advance understanding of this syndrome.
Actionable guidance for navigating care for chromosome 17q23.1-q23.2 deletion syndrome
For individuals affected by chromosome 17q23.1-q23.2 deletion syndrome, seeking a geneticist with expertise in rare genetic disorders may provide valuable insights and management strategies. While there are currently no identified patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer support and information. Additionally, consider exploring opportunities for participation in research studies or registries that focus on rare genetic conditions, which may help advance understanding of this 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 — 2 companies have orphan drug designations for this disease
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