Living with Blepharophimosis - intellectual disability syndrome, Ohdo type
A rare genetic syndrome with narrow, droopy eyelids, small teeth, hearing loss, and intellectual disability.
Understanding Blepharophimosis - intellectual disability syndrome, Ohdo type
It affects multiple body areas and shows in newborns and infants. Features can include a small head, delays in speech and movement, a cleft palate, and sometimes heart or bladder differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Narrow eyelid opening (blepharophimosis)
- Drooping upper eyelid (ptosis)
- Hearing loss
- Small or underdeveloped teeth
- Delayed speech and movement
- Mild intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Foundation for Ectodermal Dysplasias
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: blepharophimosis syndrome, ohdo type; blepharophimosis-intellectual disability syndrome, ohdo type; bmrs, ohdo type; intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth; madokoro ohdo sonoda syndrome; mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth
Patient organizations
- National Foundation for Ectodermal DysplasiasBlepharophimosis - intellectual disability syndrome, Ohdo type · United States
You are more than your diagnosis
Perspectives from people navigating life with Blepharophimosis - intellectual disability syndrome, Ohdo type.
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