Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation on chromosome 18p deletion syndrome is limited primarily due to its rarity, affecting fewer than 10,000 individuals worldwide. This low prevalence restricts the scope of systematic clinical studies and comprehensive genetic research. Furthermore, the genetic basis of the condition remains poorly defined, and ongoing clinical characterization is necessary to better understand its full spectrum of symptoms and implications.
The clinical features of chromosome 18p deletion syndrome are diverse and impact multiple systems. Most individuals experience global developmental delay (80-99%), intellectual disability (80-99%), and speech and language delays. Physical characteristics commonly observed include brachydactyly (80-99%), protruding ears (80-99%), and facial features such as a short philtrum and a depressed nasal ridge (both 80-99%). Hypodontia and short stature are also prevalent in this population, indicating a complex interplay of developmental and physical challenges.
To navigate the complexities of chromosome 18p deletion syndrome, consider consulting with a geneticist or a developmental pediatrician who has expertise in chromosomal 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. Engaging with a genetic counselor may also be beneficial to discuss family planning and potential genetic implications.
Actionable guidance for navigating care for chromosome 18p deletion syndrome
To navigate the complexities of chromosome 18p deletion syndrome, consider consulting with a geneticist or a developmental pediatrician who has expertise in chromosomal 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. Engaging with a genetic counselor may also be beneficial to discuss family planning and potential genetic implications.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation on chromosome 18p deletion syndrome is limited primarily due to its rarity, affecting fewer than 10,000 individuals worldwide. This low prevalence restricts the scope of systematic clinical studies and comprehensive genetic research. Furthermore, the genetic basis of the condition remains poorly defined, and ongoing clinical characterization is necessary to better understand its full spectrum of symptoms and implications.
The clinical features of chromosome 18p deletion syndrome are diverse and impact multiple systems. Most individuals experience global developmental delay (80-99%), intellectual disability (80-99%), and speech and language delays. Physical characteristics commonly observed include brachydactyly (80-99%), protruding ears (80-99%), and facial features such as a short philtrum and a depressed nasal ridge (both 80-99%). Hypodontia and short stature are also prevalent in this population, indicating a complex interplay of developmental and physical challenges.
To navigate the complexities of chromosome 18p deletion syndrome, consider consulting with a geneticist or a developmental pediatrician who has expertise in chromosomal 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. Engaging with a genetic counselor may also be beneficial to discuss family planning and potential genetic implications.
Actionable guidance for navigating care for chromosome 18p deletion syndrome
To navigate the complexities of chromosome 18p deletion syndrome, consider consulting with a geneticist or a developmental pediatrician who has expertise in chromosomal 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. Engaging with a genetic counselor may also be beneficial to discuss family planning and potential genetic implications.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation on chromosome 18p deletion syndrome is limited primarily due to its rarity, affecting fewer than 10,000 individuals worldwide. This low prevalence restricts the scope of systematic clinical studies and comprehensive genetic research. Furthermore, the genetic basis of the condition remains poorly defined, and ongoing clinical characterization is necessary to better understand its full spectrum of symptoms and implications.
The clinical features of chromosome 18p deletion syndrome are diverse and impact multiple systems. Most individuals experience global developmental delay (80-99%), intellectual disability (80-99%), and speech and language delays. Physical characteristics commonly observed include brachydactyly (80-99%), protruding ears (80-99%), and facial features such as a short philtrum and a depressed nasal ridge (both 80-99%). Hypodontia and short stature are also prevalent in this population, indicating a complex interplay of developmental and physical challenges.
To navigate the complexities of chromosome 18p deletion syndrome, consider consulting with a geneticist or a developmental pediatrician who has expertise in chromosomal 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. Engaging with a genetic counselor may also be beneficial to discuss family planning and potential genetic implications.
Actionable guidance for navigating care for chromosome 18p deletion syndrome
To navigate the complexities of chromosome 18p deletion syndrome, consider consulting with a geneticist or a developmental pediatrician who has expertise in chromosomal 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. Engaging with a genetic counselor may also be beneficial to discuss family planning and potential genetic implications.
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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