Choroidal atrophy - alopecia is a very rare ectodermal dysplasia syndrome, characterized by the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features...
Comprehensive, easy-to-understand information about this condition
How we create this content →The limited documentation surrounding choroidal atrophy-alopecia syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity hinders the ability to conduct systematic clinical studies and gather comprehensive data. Additionally, the lack of identified genetic causes and established inheritance patterns complicates further research and understanding.
The clinical presentation of choroidal atrophy-alopecia syndrome includes significant visual impairment (80-99% of patients), ectodermal dysplasia (80-99%), and abnormal fingernail morphology (80-99%). Other notable features are fine hair (80-99%), abnormal retinal pigmentation (80-99%), sparse hair (80-99%), and dysplastic toenails (80-99%). Sparse or absent eyelashes are also common, affecting 80-99% of patients. Additionally, a small percentage (5-29%) may present with supernumerary nipples.
To navigate choroidal atrophy-alopecia syndrome, consider consulting with a dermatologist specializing in ectodermal dysplasias or a geneticist who can provide insights into genetic counseling. Although no specific patient organizations exist, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies, if available, may also provide insights into the condition's progression and management.
Actionable guidance for navigating care for choroidal atrophy-alopecia syndrome
To navigate choroidal atrophy-alopecia syndrome, consider consulting with a dermatologist specializing in ectodermal dysplasias or a geneticist who can provide insights into genetic counseling. Although no specific patient organizations exist, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies, if available, may also provide insights into the condition's progression and management.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding choroidal atrophy-alopecia syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity hinders the ability to conduct systematic clinical studies and gather comprehensive data. Additionally, the lack of identified genetic causes and established inheritance patterns complicates further research and understanding.
The clinical presentation of choroidal atrophy-alopecia syndrome includes significant visual impairment (80-99% of patients), ectodermal dysplasia (80-99%), and abnormal fingernail morphology (80-99%). Other notable features are fine hair (80-99%), abnormal retinal pigmentation (80-99%), sparse hair (80-99%), and dysplastic toenails (80-99%). Sparse or absent eyelashes are also common, affecting 80-99% of patients. Additionally, a small percentage (5-29%) may present with supernumerary nipples.
To navigate choroidal atrophy-alopecia syndrome, consider consulting with a dermatologist specializing in ectodermal dysplasias or a geneticist who can provide insights into genetic counseling. Although no specific patient organizations exist, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies, if available, may also provide insights into the condition's progression and management.
Actionable guidance for navigating care for choroidal atrophy-alopecia syndrome
To navigate choroidal atrophy-alopecia syndrome, consider consulting with a dermatologist specializing in ectodermal dysplasias or a geneticist who can provide insights into genetic counseling. Although no specific patient organizations exist, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies, if available, may also provide insights into the condition's progression and management.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The limited documentation surrounding choroidal atrophy-alopecia syndrome is primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity hinders the ability to conduct systematic clinical studies and gather comprehensive data. Additionally, the lack of identified genetic causes and established inheritance patterns complicates further research and understanding.
The clinical presentation of choroidal atrophy-alopecia syndrome includes significant visual impairment (80-99% of patients), ectodermal dysplasia (80-99%), and abnormal fingernail morphology (80-99%). Other notable features are fine hair (80-99%), abnormal retinal pigmentation (80-99%), sparse hair (80-99%), and dysplastic toenails (80-99%). Sparse or absent eyelashes are also common, affecting 80-99% of patients. Additionally, a small percentage (5-29%) may present with supernumerary nipples.
To navigate choroidal atrophy-alopecia syndrome, consider consulting with a dermatologist specializing in ectodermal dysplasias or a geneticist who can provide insights into genetic counseling. Although no specific patient organizations exist, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies, if available, may also provide insights into the condition's progression and management.
Actionable guidance for navigating care for choroidal atrophy-alopecia syndrome
To navigate choroidal atrophy-alopecia syndrome, consider consulting with a dermatologist specializing in ectodermal dysplasias or a geneticist who can provide insights into genetic counseling. Although no specific patient organizations exist, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Participating in natural history studies, if available, may also provide insights into the condition's progression and management.
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
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.
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