Living with Blepharonasofacial malformation syndrome
A rare genetic syndrome with a mask-like face, blocked tear ducts, hand differences, and learning challenges.
Understanding Blepharonasofacial malformation syndrome
It also involves movement features from the brain areas that control movement (extrapyramidal features) and differences in the fingers or toes. Signs are noticed in childhood. Features can include a narrow eyelid opening, cleft palate, and hearing loss.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Mask-like face
- Narrow eyelid opening (blepharophimosis)
- Blocked tear ducts and watery eyes
- Cleft palate or cleft lip
- Hearing loss
- 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, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 can be autosomal dominant or X-linked.
Also known as: pashayan prozansky syndrome; pashayan syndrome; pashayan-prozansky syndrome; pashayan-pruzansky syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Blepharonasofacial malformation syndrome.
Explore research for Blepharonasofacial malformation syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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