Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation on Ohdo syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals globally. This rarity makes it challenging to conduct large-scale clinical studies and gather extensive data. Additionally, the genetic basis of the condition remains unidentified, which further complicates the understanding and characterization of the syndrome.
The clinical features of OBS include significant manifestations such as blepharophimosis (80-99% prevalence), ptosis (80-99%), and dental hypoplasia (80-99%). Other associated features include microtia (abnormal outer ear development), microcephaly (small head size), and hearing impairment, with many individuals also showing signs of cryptorchidism (undescended testicles) and proteinuria (presence of protein in urine). These features can vary in severity among affected individuals.
To navigate the complexities of Ohdo syndrome, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into the condition and potential management strategies. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified for OBS, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer opportunities for better care and access to emerging therapies.
Currently, there are no orphan drug designations for OBS, but there is one active clinical trial related to the condition. You can find more information about ongoing research and potential participation opportunities by visiting ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=blepharophimosis%20-%20intellectual%20disability%20syndrome%2C%20Ohdo%20type. Participation in clinical trials can provide access to new therapies and contribute to the understanding of this rare syndrome.
Actionable guidance for navigating care for blepharophimosis - intellectual disability syndrome, Ohdo type
To navigate the complexities of Ohdo syndrome, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into the condition and potential management strategies. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified for OBS, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer opportunities for better care and access to emerging therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on Ohdo syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals globally. This rarity makes it challenging to conduct large-scale clinical studies and gather extensive data. Additionally, the genetic basis of the condition remains unidentified, which further complicates the understanding and characterization of the syndrome.
The clinical features of OBS include significant manifestations such as blepharophimosis (80-99% prevalence), ptosis (80-99%), and dental hypoplasia (80-99%). Other associated features include microtia (abnormal outer ear development), microcephaly (small head size), and hearing impairment, with many individuals also showing signs of cryptorchidism (undescended testicles) and proteinuria (presence of protein in urine). These features can vary in severity among affected individuals.
To navigate the complexities of Ohdo syndrome, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into the condition and potential management strategies. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified for OBS, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer opportunities for better care and access to emerging therapies.
Currently, there are no orphan drug designations for OBS, but there is one active clinical trial related to the condition. You can find more information about ongoing research and potential participation opportunities by visiting ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=blepharophimosis%20-%20intellectual%20disability%20syndrome%2C%20Ohdo%20type. Participation in clinical trials can provide access to new therapies and contribute to the understanding of this rare syndrome.
Actionable guidance for navigating care for blepharophimosis - intellectual disability syndrome, Ohdo type
To navigate the complexities of Ohdo syndrome, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into the condition and potential management strategies. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified for OBS, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer opportunities for better care and access to emerging therapies.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Documentation on Ohdo syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals globally. This rarity makes it challenging to conduct large-scale clinical studies and gather extensive data. Additionally, the genetic basis of the condition remains unidentified, which further complicates the understanding and characterization of the syndrome.
The clinical features of OBS include significant manifestations such as blepharophimosis (80-99% prevalence), ptosis (80-99%), and dental hypoplasia (80-99%). Other associated features include microtia (abnormal outer ear development), microcephaly (small head size), and hearing impairment, with many individuals also showing signs of cryptorchidism (undescended testicles) and proteinuria (presence of protein in urine). These features can vary in severity among affected individuals.
To navigate the complexities of Ohdo syndrome, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into the condition and potential management strategies. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified for OBS, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer opportunities for better care and access to emerging therapies.
Currently, there are no orphan drug designations for OBS, but there is one active clinical trial related to the condition. You can find more information about ongoing research and potential participation opportunities by visiting ClinicalTrials.gov at the following link: https://clinicaltrials.gov/search?cond=blepharophimosis%20-%20intellectual%20disability%20syndrome%2C%20Ohdo%20type. Participation in clinical trials can provide access to new therapies and contribute to the understanding of this rare syndrome.
Actionable guidance for navigating care for blepharophimosis - intellectual disability syndrome, Ohdo type
To navigate the complexities of Ohdo syndrome, consider seeking a specialist in genetic disorders or a clinical geneticist who can provide insights into the condition and potential management strategies. Genetic counseling may also be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified for OBS, resources like the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can provide valuable information and support. Engaging in clinical trials may also offer opportunities for better care and access to emerging therapies.
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.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
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. Always consult with qualified healthcare providers for medical guidance.
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