Cataract-hypertrichosis-intellectual disability syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian sibs born t...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for cataract-hypertrichosis-intellectual disability syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the ability to conduct systematic clinical studies and gather extensive phenotypic data. Additionally, the genetic basis of the condition has not been identified, leading to challenges in understanding its full clinical spectrum.
To navigate cataract-hypertrichosis-intellectual disability syndrome, consider seeking a geneticist or a specialist in hereditary syndromes who can provide insights into potential genetic counseling and family planning options. Although there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Engaging with a genetic counselor may also help in understanding the implications of the autosomal recessive inheritance pattern for family members.
Actionable guidance for navigating care for cataract-hypertrichosis-intellectual disability syndrome
To navigate cataract-hypertrichosis-intellectual disability syndrome, consider seeking a geneticist or a specialist in hereditary syndromes who can provide insights into potential genetic counseling and family planning options. Although there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Engaging with a genetic counselor may also help in understanding the implications of the autosomal recessive inheritance pattern for family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for cataract-hypertrichosis-intellectual disability syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the ability to conduct systematic clinical studies and gather extensive phenotypic data. Additionally, the genetic basis of the condition has not been identified, leading to challenges in understanding its full clinical spectrum.
To navigate cataract-hypertrichosis-intellectual disability syndrome, consider seeking a geneticist or a specialist in hereditary syndromes who can provide insights into potential genetic counseling and family planning options. Although there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Engaging with a genetic counselor may also help in understanding the implications of the autosomal recessive inheritance pattern for family members.
Actionable guidance for navigating care for cataract-hypertrichosis-intellectual disability syndrome
To navigate cataract-hypertrichosis-intellectual disability syndrome, consider seeking a geneticist or a specialist in hereditary syndromes who can provide insights into potential genetic counseling and family planning options. Although there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Engaging with a genetic counselor may also help in understanding the implications of the autosomal recessive inheritance pattern for family members.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation for cataract-hypertrichosis-intellectual disability syndrome is limited primarily due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals. This rarity restricts the ability to conduct systematic clinical studies and gather extensive phenotypic data. Additionally, the genetic basis of the condition has not been identified, leading to challenges in understanding its full clinical spectrum.
To navigate cataract-hypertrichosis-intellectual disability syndrome, consider seeking a geneticist or a specialist in hereditary syndromes who can provide insights into potential genetic counseling and family planning options. Although there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Engaging with a genetic counselor may also help in understanding the implications of the autosomal recessive inheritance pattern for family members.
Actionable guidance for navigating care for cataract-hypertrichosis-intellectual disability syndrome
To navigate cataract-hypertrichosis-intellectual disability syndrome, consider seeking a geneticist or a specialist in hereditary syndromes who can provide insights into potential genetic counseling and family planning options. Although there are currently no identified patient organizations, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information and support. Engaging with a genetic counselor may also help in understanding the implications of the autosomal recessive inheritance pattern for family members.
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.
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