Blepharonasofacial malformation syndrome is a very rare birth condition that affects the face, especially the eyelids (“blepharo-”), the nose (“naso-”), and the overall facial shape. The face often looks “mask-like,” and problems with the tear duct (lacrimal duct), movement or muscle control (extrapyramidal features), fingers or toes (digital changes), and learning or development can also occur. Doctors sometimes call it Pashayan syndrome or blepharo-naso-facial syndrome. It has been reported in very few families worldwide. rarediseases.info.nih.gov+2orpha.net+2
Blepharo-naso-facial malformation syndrome (BNFS)—also called Pashayan syndrome or blepharonasofacial malformation syndrome—is a rare, likely autosomal-dominant congenital condition. People typically have a mask-like, expressionless face, a broad/flat, bulky nose, telecanthus/blepharophimosis (eyes set wider apart with small palpebral fissures), blocked tear (lacrimal) ducts, variable hearing loss, and sometimes movement symptoms (e.g., dystonia), hand/foot differences, and learning difficulties. It overlaps in appearance with Nablus mask-like facial syndrome but is considered distinct; the exact gene for classic BNFS remains unclear, while Nablus syndrome is linked to an 8q22.1 microdeletion. Wikipedia+4rarediseases.info.nih.gov+4orpha.net+4
In medical catalogs it appears under several names that describe the same pattern. Reports describe an autosomal dominant inheritance pattern in some families (it can pass from an affected parent to a child), but many cases are isolated and extremely rare. The exact gene cause has not been clearly established in the medical literature as of today. Wikipedia+1
Other names
Pashayan syndrome (also Pashayan–Pruzansky syndrome)
Blepharo-naso-facial syndrome
Blepharonasofacial malformation syndrome (MONDO/MedGen term)
These names refer to the same rare pattern of facial and related findings described in small numbers of patients. Wikipedia+2monarchinitiative.org+2
Types
There is no official, universally accepted set of “types,” because the condition is so rare. A helpful, clinical way to group what has been described in the literature is:
Classic (Pashayan) presentation
The hallmark is the mask-like face with a broad, flattened nose, eyelid anomalies, malformed ears, and sometimes hand/foot differences. Learning difficulties may be present. Family inheritance can be autosomal dominant. WikipediaNeurological-involved/overlap presentation
Some reports describe patients with the facial pattern plus more obvious movement-control problems and hand/foot malformations, historically discussed alongside entities like Van Maldergem (cerebro-facio-articular) syndrome. These represent overlaps in features rather than proven “subtypes” of one disease. PMC+1Incomplete or atypical presentation
A few features are present (for example, eyelid and tear-duct problems with subtle nasal changes) but the full pattern is not seen. In very rare diseases, this can happen because expression varies within families. orpha.net+1
Why present it this way? It helps clinicians explain the range of findings they may see, while acknowledging that the published record is small. rarediseases.info.nih.gov
Causes
Because the syndrome is so rare, scientists have not yet pinpointed a single proven gene cause. What we know is based on how faces form in the embryo, how similar syndromes behave, and what has been observed in affected families.
Autosomal dominant inheritance in some families – a parent with the syndrome can pass it to a child; expression can vary from mild to severe. Wikipedia
New (de novo) genetic change – a one-time change that begins in the child, with unaffected parents, which is common in rare conditions. rarediseases.info.nih.gov
Disruption of neural crest cell migration – these early cells help build the eyelids, nose, and midface; disturbed movement can cause combined eyelid-nasal anomalies. rarediseases.org
Abnormal eyelid fold development – errors while the upper and lower lids form can lead to short lids, colobomas, or malposition. rarediseases.info.nih.gov
Failure of tear-duct canalization – the tear drainage channel does not open normally, causing blockage. rarediseases.info.nih.gov
Midface (nasomaxillary) under-development – reduced growth of the bones behind the nose and cheeks creates a “mask-like” look. Wikipedia
Ear cartilage maldevelopment – leads to unusual ear shape or placement. Wikipedia
Abnormalities in brain circuits that control movement – can produce extrapyramidal signs (tone, posture, or movement issues). rarediseases.info.nih.gov
Digit patterning changes – small variations in the signals that shape fingers and toes can produce minor malformations. rarediseases.info.nih.gov
Generalized craniofacial morphogenesis errors – broad developmental timing changes that affect multiple nearby structures at once. rarediseases.org
Variable expressivity – the same underlying cause can look different in different people within a family. Wikipedia
Possible overlapping pathways with related craniofacial syndromes – similarity in features to entities like Van Maldergem suggests shared developmental pathways, though not necessarily the same genes. PMC
Epigenetic influences – changes in how genes are switched on/off during facial development may contribute, as seen in other rare facial syndromes. (Inference grounded in craniofacial biology overviews.) rarediseases.org
Subtle prenatal growth restriction of midfacial tissues – may accentuate nasal flattening and telecanthus. rarediseases.info.nih.gov
Lacrimal punctum malformation – tiny openings on the eyelid margin may be absent or misplaced, creating drainage issues. rarediseases.info.nih.gov
Palpebral fissure size changes – short or narrow eye openings contribute to the characteristic facial appearance. rarediseases.info.nih.gov
Abnormal soft-tissue fat distribution – some related nasopalpebral conditions show lipomatous tissue near the canthus; this helps explain occasional fullness around the inner eye. JAMA Network+1
Sporadic mosaicism (theory) – when a new genetic change occurs after the first cell divisions, some tissues are affected and others are not, potentially causing asymmetry. (General mechanism referenced from rare craniofacial disease frameworks.) rarediseases.org
Modifier genes – other genes may influence how strongly features appear, explaining variation within families. Wikipedia
Currently unknown primary driver – despite case descriptions, a single, confirmed causal gene has not been established in authoritative catalogs for this syndrome. NCBI+1
Common symptoms and signs
Mask-like facial appearance – the middle of the face looks flat and still; the overall expression seems fixed. rarediseases.info.nih.gov+1
Broad, flattened nose – the bridge of the nose is wide and low. Wikipedia
Eyelid anomalies – short eyelids, droop, or unusual shape can be present. rarediseases.info.nih.gov
Blocked tear ducts (tear overflow) – tears may run down the face because they cannot drain into the nose. rarediseases.info.nih.gov
Wide distance between inner eye corners (telecanthus) – the eyes appear farther apart at the inner corners. (Described in related craniofacial patterns.) Wikipedia
Malformed or low-set ears – ear shape or position looks different. Wikipedia
Mild to moderate learning difficulties – some children need extra help in school. rarediseases.info.nih.gov
Movement-control problems (extrapyramidal signs) – stiffness, unusual postures, or involuntary movements can occur. rarediseases.info.nih.gov
Finger or toe differences – digits may be short, tapered, or otherwise atypical. rarediseases.info.nih.gov
Dry or irritated eyes – due to poor blink mechanics or tear drainage problems. rarediseases.info.nih.gov
Recurrent eye infections – chronic tear-duct blockage can predispose to discharge or infection. rarediseases.info.nih.gov
Nasal congestion or breathing noise – the nasal shape can narrow passages. rarediseases.info.nih.gov
Speech clarity issues – facial structure and ear issues can subtly affect articulation. (General consequence in craniofacial conditions.) rarediseases.org
Self-esteem concerns – facial difference can affect confidence; supportive counseling helps. (General psychosocial consideration in visible differences.) rarediseases.org
Feeding difficulties in infancy (sometimes) – weak seal or nasal airflow issues can make early feeding slower. (General craniofacial care principle.) rarediseases.org
Diagnostic tests
A) Physical examination (what the clinician looks for)
Detailed dysmorphology exam – a head-to-toe assessment of facial shape, eye openings, nasal bridge, ears, hands, and feet to document the pattern that defines the syndrome. rarediseases.info.nih.gov
Ophthalmic slit-lamp and eyelid exam – measures eyelid length, position, and margin shape; checks for colobomas or other lid defects. rarediseases.info.nih.gov
Canthal measurements (inner/outer canthal distances) – confirms telecanthus or other spacing differences that create the mask-like look. Wikipedia
Lacrimal punctum inspection and fluorescein dye test – examines the tear drainage openings and watches dye flow to see if the duct is blocked. rarediseases.info.nih.gov
Neurological examination – looks for tone, posture, and movement patterns that point to extrapyramidal involvement. rarediseases.info.nih.gov
B) Manual or bedside tests (simple procedures in the clinic)
Blink dynamics and lid closure test – evaluates blink strength and lid coverage to protect the cornea. rarediseases.info.nih.gov
Schirmer tear test – small paper strips measure tear production when dryness is suspected. (Standard ophthalmic test used alongside tear-duct assessment.) rarediseases.info.nih.gov
Nasal airflow/obstruction check – gentle occlusion and airflow testing help estimate nasal passage openness when the bridge is flat. rarediseases.info.nih.gov
Developmental screening tools (e.g., milestone checklists) – quick standardized screens help decide if full neurodevelopmental testing is needed. rarediseases.info.nih.gov
Ear/hearing bedside checks (otoscopy, tuning forks as age-appropriate) – screens for ear shape differences plus hearing issues that can accompany craniofacial syndromes. Wikipedia
C) Lab and pathological tests
Genetic consultation and panel/exome testing – although a single causal gene is not yet established for this syndrome, modern sequencing helps exclude look-alike conditions and may reveal a de novo variant; results guide family counseling. NCBI+1
Cytogenetic/microarray testing – looks for rare microdeletions/duplications that can produce combined facial and limb features; useful in undiagnosed craniofacial patterns. rarediseases.org
Basic labs when infections are frequent (CBC, CRP) – not diagnostic of the syndrome itself, but helpful if blocked tear ducts lead to recurrent infection. rarediseases.info.nih.gov
Tear culture when discharge is persistent – guides antibiotic choice for dacryocystitis secondary to tear-duct obstruction. rarediseases.info.nih.gov
D) Electrodiagnostic tests
Electroencephalography (EEG) – considered if spells or seizures are suspected alongside developmental delay; helps separate seizure activity from movement disorders. rarediseases.info.nih.gov
Electromyography/nerve conduction (EMG/NCS) – rarely needed; used when movement problems suggest neuromuscular involvement rather than central (extrapyramidal) causes. rarediseases.info.nih.gov
E) Imaging tests
Craniofacial CT or MRI – maps the nasal bones, maxilla, orbit, and soft tissues to plan surgery and to define the midface under-development that produces the mask-like look. Wikipedia
Dacryocystography or dacryoscintigraphy – contrast imaging of the tear drainage system to pinpoint the level of obstruction. rarediseases.info.nih.gov
Orbital MRI/CT – evaluates eyelid structures, canthi, and any soft-tissue fullness around the medial canthus when present. (Related literature in nasopalpebral lipoma-coloboma reports.) JAMA Network+1
Temporal bone CT (if hearing issues) – looks at the middle/inner ear in those with ear malformations or suspected conductive loss. Wikipedia
Non-pharmacological treatments (therapies & others)
Parent education & coordinated care. Explain the condition in simple terms; build a plan across ophthalmology/ENT/audiology/rehab/genetics to prevent missed problems (e.g., hearing-speech links). This improves outcomes because issues are addressed early and together. rarediseases.info.nih.gov
Eyelid hygiene & tear care. Warm compresses, lid hygiene, and preservative-free lubricants reduce ocular surface irritation from poor drainage, easing watering and preventing infection. rarediseases.info.nih.gov
Crigler lacrimal sac massage (infants). Gentle downward strokes over the lacrimal sac can help open a membranous obstruction and reduce epiphora in babies. rarediseases.info.nih.gov
Scheduled ophthalmology follow-up. Regular checks prevent corneal complications from constant tearing and plan timely procedures if obstruction persists. rarediseases.info.nih.gov
Early hearing support. Prompt fitting of hearing aids or other assistive devices improves language development and learning. PubMed
Speech-language therapy. Targets articulation (especially with high-arched/cleft palate), expressive language, and social communication. PubMed
Feeding therapy. For infants with palate/tone issues, strategies and specialized bottles reduce choking and improve weight gain. PubMed
Occupational therapy (OT). Addresses fine-motor difficulties from hand differences or joint laxity; includes adaptive grips/splints and school accommodations. PubMed
Physical therapy (PT). Posture, balance, and stretching programs help manage dystonia/spasticity and improve endurance. JAMA Network
Educational supports/IEP. Neuropsychological testing guides tailored school plans and assistive tech to maximize learning. rarediseases.info.nih.gov
Psychosocial support. Counseling helps families address social challenges from facial differences and communication needs. rarediseases.info.nih.gov
Sun/skin care. Gentle emollients for tight, glossy skin; daily sunscreen to protect sensitive skin around the eyes. PubMed
Infection prevention around the eyes. Hand hygiene and prompt care for conjunctivitis/dacryocystitis reduce complications of blocked ducts. rarediseases.info.nih.gov
Sleep/airway positioning. If palate or midface features cause snoring/OSA symptoms, positional strategies and ENT evaluation improve rest and daytime function. PubMed
Regular dental care. Crowding/malocclusion are common; early orthodontic input can ease hygiene and speech articulation. PubMed
Protective eyewear. Shields dry, irritated eyes from wind/dust and reduces exposure keratopathy risk. rarediseases.info.nih.gov
Communication training for caregivers/teachers. Reinforce lip-reading support, quiet classrooms, seating placement, and visual cues. PubMed
Genetic counseling. Discuss autosomal-dominant inheritance and recurrence risk for future pregnancies. JAMA Network
Community connection to rare-disease networks. Peer support improves coping and navigation of services. globalgenes.org
Care transitions plan (adolescence→adult). Ensure continuity of ophthalmic, hearing, and rehab care into adulthood. rarediseases.info.nih.gov
Medicines
Important safety note: None of the drugs below are approved for BNFS itself. They’re used for specific problems BNFS can cause (e.g., eye infection from blocked ducts, dystonia/spasticity, ear infection). Always individualize dosing with the treating clinicians.
Ofloxacin ophthalmic 0.3% or moxifloxacin ophthalmic 0.5% for bacterial conjunctivitis/keratitis when lacrimal blockage predisposes to infection. FDA labels specify ophthalmic antibacterial indications; dosing is per label (e.g., MOXEZA: 1 drop twice daily for 7 days). Side effects: eye irritation, hypersensitivity. FDA Access Data+1
Amoxicillin-clavulanate (AUGMENTIN) for dacryocystitis or otitis media when bacterial infection is diagnosed. FDA-approved systemic antibacterial; dosing varies by formulation/weight; GI upset/rash possible. FDA Access Data
Baclofen (oral solutions like FLEQSUVY or OZOBAX, or intrathecal LIORESAL via pump) for spasticity when present. FDA-approved for spasticity; common adverse effects include sedation and dizziness; intrathecal pump has device-specific precautions. FDA Access Data+3FDA Access Data+3FDA Access Data+3
OnabotulinumtoxinA (BOTOX) for focal dystonia/spasticity in appropriate age groups/indications. Multiple neurologic indications on label; adverse effects include weakness and rare spread-of-effect warnings. FDA Access Data
(Because high-quality sources do not describe 20 distinct, evidence-based drug regimens for BNFS, listing “20 drugs for BNFS” would be misleading. The medicines above are examples of indication-based symptom care with FDA-cited labels.)
Dietary molecular supplements (realistic guidance)
There is no supplement proven to change BNFS itself. Sensible goals are eye surface comfort, bone/teeth health, and general neurodevelopment. A registered dietitian can tailor plans around feeding or palate issues. Examples include: balanced omega-3 intake, adequate vitamin A (within safe limits) for ocular surface, vitamin D and calcium for bone health if intake is low, iron if iron-deficiency is present, and hydration for mucosal comfort. Always test-and-treat deficiencies rather than routine high-dose supplements. (No high-quality BNFS-specific trials exist.) rarediseases.info.nih.gov
Immunity boosters,” “regenerative,” and “stem-cell” drugs?
There is no evidence that immune-boosting pills, stem-cell therapies, or “regenerative drugs” treat BNFS. Using them outside a regulated clinical trial may be harmful or exploitative. Families should avoid unproven interventions and discuss any trial opportunities with a genetics team. rarediseases.info.nih.gov
Procedures/surgeries
Nasolacrimal duct probing (often in infants/toddlers) to open a blocked tear duct and stop constant tearing/infections. rarediseases.info.nih.gov
Dacryocystorhinostomy (DCR) (external or endoscopic) if obstruction persists or recurs; creates a new tear drainage pathway to relieve epiphora/infections. rarediseases.info.nih.gov
Eyelid surgery (e.g., canthoplasty/blepharoplasty) to correct severe blepharophimosis/telecanthus that interferes with vision or ocular health. rarediseases.info.nih.gov
Cleft palate repair (when present) to improve feeding, speech, and reduce ear infections. PubMed
Ear reconstruction or ossicular/implantable hearing devices for structural ear problems or significant hearing loss not helped by standard aids. PubMed
Practical preventions
Keep hands and eyelids clean; treat eye redness promptly to avoid infections. rarediseases.info.nih.gov
Scheduled hearing checks in early childhood; hearing drives language development. PubMed
Regular ophthalmology & ENT follow-up to time procedures and prevent complications. rarediseases.info.nih.gov
Safe sleep and airway vigilance (snoring/OSA red flags → ENT review). PubMed
Fluoride dental care and early orthodontic input for crowding/malocclusion. PubMed
Protective eyewear outdoors/windy days; use preservative-free tears if advised. rarediseases.info.nih.gov
Vaccinations as per national schedule to reduce ENT/respiratory infections that worsen hearing/speech outcomes. rarediseases.info.nih.gov
School supports (quiet seating, FM systems, teacher awareness). PubMed
Genetic counseling for family planning. JAMA Network
Avoid unproven “stem-cell” or “immune booster” therapies. rarediseases.info.nih.gov
When to see a doctor (red flags)
New or worsening eye pain, swelling, fever, or pus → may be dacryocystitis or keratitis needing urgent care. rarediseases.info.nih.gov
Any regression in hearing or speech, frequent ear infections, or school difficulties. PubMed
Feeding/choking, poor weight gain, or sleep apnea signs (loud snoring, pauses). PubMed
Painful, twisting muscle postures or falls related to dystonia/spasticity. JAMA Network
What to eat / what to avoid
Eat: balanced meals with fruits/vegetables, protein for growth, omega-3 sources (fish, flax), dairy or fortified alternatives for calcium/vitamin D, adequate fluids, and soft/moist textures if palate issues affect chewing. PubMed
Avoid/limit: very dry, crumbly foods if they worsen eye surface irritation (dusty crumbs) or chewing; excess sugar (dental risk); smoke exposure (irritates eyes/ENT); unregulated supplements or “immune boosters.” rarediseases.info.nih.gov
FAQs
1) Is BNFS the same as Nablus mask-like facial syndrome?
No. They look similar, but Nablus has a known 8q22.1 microdeletion; classic BNFS’s gene is still unknown. Genetic testing helps tell them apart. Wikipedia
2) How common is BNFS?
It’s ultra-rare; cases are mostly single families or small series. JAMA Network+1
3) Is inheritance autosomal-dominant?
Yes, reported families are compatible with autosomal-dominant inheritance and variable expression. JAMA Network
4) What causes the “mask-like” face?
A combination of eyelid narrowing, thick/tight facial skin, and nasal shape changes. PubMed
5) Why are tear ducts often blocked?
Abnormalities in the nasolacrimal outflow tract are part of the syndrome. rarediseases.info.nih.gov
6) Can hearing be affected?
Yes—conductive or sensorineural hearing loss has been reported; hearing support is critical for language. PubMed
7) Are there movement problems?
Some families reported dystonia or extrapyramidal features; PT/OT/neurology can help. JAMA Network
8) What surgeries help tearing?
Probing in infants; DCR if obstruction persists. rarediseases.info.nih.gov
9) Are there specific BNFS medicines?
No. Medicines target complications (eye/ear infections, spasticity). rarediseases.info.nih.gov
10) Which antibiotic eye drops are typical when infection occurs?
Fluoroquinolone drops like ofloxacin or moxifloxacin per label and clinician judgment. FDA Access Data+1
11) Can spasticity be treated?
Options include baclofen (oral or intrathecal pump) and, in selected cases, onabotulinumtoxinA—for their approved spasticity/dystonia indications. FDA Access Data+2FDA Access Data+2
12) Will a cleft palate always be present?
No, but palate abnormalities (high arch or cleft) can occur and affect feeding/speech. PubMed
13) Is lifespan normal?
Primary concerns are functional (vision, hearing, speech); lifespan hasn’t been defined as shortened in reliable sources. rarediseases.info.nih.gov
14) Should families seek genetic counseling?
Yes, to discuss recurrence risk and testing of relatives. JAMA Network
15) Where can families find trustworthy summaries?
Orphanet and NIH GARD pages provide clinician-reviewed overviews and links. orpha.net+1
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: October 28, 2025.
