Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anoma...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding chromosome 15q26-qter deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This rarity results in a lack of systematic clinical studies and comprehensive data collection, making it challenging to fully characterize the condition. Additionally, the absence of identified genetic causes further complicates the understanding of its clinical features and management.
Key clinical features of chromosome 15q26-qter deletion syndrome include: - Growth restrictions: Small for gestational age and intrauterine growth retardation are observed in 80-99% of cases. - Developmental issues: A significant number of patients experience developmental delays and intellectual disabilities. - Physical anomalies: Common anomalies include talipes equinovarus, short stature, and various craniofacial dysmorphisms such as hypertelorism and upslanted palpebral fissures, affecting 30-79% of patients. - Other concerns: Hearing impairment and failure to thrive are also prevalent.
To navigate chromosome 15q26-qter deletion syndrome, consider consulting with a clinical geneticist who specializes in chromosomal abnormalities. Genetic counseling may also be beneficial for understanding the implications of sporadic inheritance and family planning. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, participating in research studies or registries may help contribute to a better understanding of this condition.
Actionable guidance for navigating care for chromosome 15q26-qter deletion syndrome
To navigate chromosome 15q26-qter deletion syndrome, consider consulting with a clinical geneticist who specializes in chromosomal abnormalities. Genetic counseling may also be beneficial for understanding the implications of sporadic inheritance and family planning. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, participating in research studies or registries may help contribute to a better understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding chromosome 15q26-qter deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This rarity results in a lack of systematic clinical studies and comprehensive data collection, making it challenging to fully characterize the condition. Additionally, the absence of identified genetic causes further complicates the understanding of its clinical features and management.
Key clinical features of chromosome 15q26-qter deletion syndrome include: - Growth restrictions: Small for gestational age and intrauterine growth retardation are observed in 80-99% of cases. - Developmental issues: A significant number of patients experience developmental delays and intellectual disabilities. - Physical anomalies: Common anomalies include talipes equinovarus, short stature, and various craniofacial dysmorphisms such as hypertelorism and upslanted palpebral fissures, affecting 30-79% of patients. - Other concerns: Hearing impairment and failure to thrive are also prevalent.
To navigate chromosome 15q26-qter deletion syndrome, consider consulting with a clinical geneticist who specializes in chromosomal abnormalities. Genetic counseling may also be beneficial for understanding the implications of sporadic inheritance and family planning. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, participating in research studies or registries may help contribute to a better understanding of this condition.
Actionable guidance for navigating care for chromosome 15q26-qter deletion syndrome
To navigate chromosome 15q26-qter deletion syndrome, consider consulting with a clinical geneticist who specializes in chromosomal abnormalities. Genetic counseling may also be beneficial for understanding the implications of sporadic inheritance and family planning. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, participating in research studies or registries may help contribute to a better understanding of this condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding chromosome 15q26-qter deletion syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 people. This rarity results in a lack of systematic clinical studies and comprehensive data collection, making it challenging to fully characterize the condition. Additionally, the absence of identified genetic causes further complicates the understanding of its clinical features and management.
Key clinical features of chromosome 15q26-qter deletion syndrome include: - Growth restrictions: Small for gestational age and intrauterine growth retardation are observed in 80-99% of cases. - Developmental issues: A significant number of patients experience developmental delays and intellectual disabilities. - Physical anomalies: Common anomalies include talipes equinovarus, short stature, and various craniofacial dysmorphisms such as hypertelorism and upslanted palpebral fissures, affecting 30-79% of patients. - Other concerns: Hearing impairment and failure to thrive are also prevalent.
To navigate chromosome 15q26-qter deletion syndrome, consider consulting with a clinical geneticist who specializes in chromosomal abnormalities. Genetic counseling may also be beneficial for understanding the implications of sporadic inheritance and family planning. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, participating in research studies or registries may help contribute to a better understanding of this condition.
Actionable guidance for navigating care for chromosome 15q26-qter deletion syndrome
To navigate chromosome 15q26-qter deletion syndrome, consider consulting with a clinical geneticist who specializes in chromosomal abnormalities. Genetic counseling may also be beneficial for understanding the implications of sporadic inheritance and family planning. While there are no specific patient organizations identified, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information. Additionally, participating in research studies or registries may help contribute to a better understanding of this condition.
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 — 7 companies have orphan drug designations for this disease
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