Pashayan syndrome is a very rare genetic condition that changes the way the face, eyes, nose, and sometimes the hands and brain develop. Doctors first described it in 1973 in a family where several people had the same pattern of features. The face often looks “mask-like” because facial muscles and soft tissues are affected. The nose can be broad, flat, and bulky. The tear drainage ducts can be narrow or blocked. Some people have hand or finger differences. Some have movement problems (like dystonia) and learning or intellectual disability. The condition can be passed down in families in an autosomal dominant way, but how strongly it shows can vary a lot from person to person. JAMA Network+2Wikipedia+2
Pashayan syndrome is a very rare, inherited condition that mainly affects the face, eyelids, tear-drainage system, and sometimes the hands and learning ability. Typical signs include a “mask-like” face with a broad, flat nose, blocked tear ducts, eyelid and ear shape differences, and, in some people, movement problems or finger/toe changes. It is usually described as autosomal dominant, which means one changed gene copy can be enough for the condition to appear, and the look can vary from person to person—even in the same family. Doctors also call it blepharo-naso-facial or blepharonasofacial malformation syndrome. Wikipedia+4Genetic Rare Diseases Center+4Orpha+4
Doctors and databases that track rare diseases use similar descriptions. They note a distinctive, mask-like facial appearance, lacrimal (tear) duct obstruction, extrapyramidal or movement features, digital (hand/finger) malformations, and intellectual disability in some patients. Orpha+2Genetic Rare Diseases Center+2
Other names
This condition appears in the literature under several names:
Pashayan–Pruzansky syndrome (names of the first authors who described it). Wikipedia
Blepharo-naso-facial malformation syndrome (describes eyelid/tear area, nose, and facial features). JAMA Network
Blepharonasofacial malformation syndrome (a variant spelling used by rare-disease databases). Genetic Rare Diseases Center+1
Some publications discuss a related or overlapping entity called cerebro-facio-articular (Van Maldergem) syndrome. A few sources once considered it a subset or part of the same spectrum; others treat it as a separate diagnosis. Either way, it shares some facial traits but also has additional features and a separate modern classification. If a doctor suspects this overlap, detailed clinical genetics evaluation is needed. Wikipedia
It is extremely rare. Only a small number of families have been reported in the medical literature. Because it is so rare, exact prevalence is unknown. JAMA Network+1
Inheritance: Most reports support autosomal dominant inheritance. This means one changed copy of a gene can be enough to cause features. However, the appearance can vary widely, even within the same family. A 3-generation family report supported dominant inheritance and discussed that X-linked dominant inheritance was theoretically possible but less likely. PubMed
Gene(s): The specific causative gene has not been firmly established in the classic, original Pashayan cases. Because the gene is not known, genetic testing today is used mainly to exclude look-alike syndromes and to check for overlapping conditions. malacards.org
Types
There is no official list of subtypes for classic Pashayan syndrome. In practice, clinicians sometimes think about two “types” for discussion:
Classic Pashayan (blepharo-naso-facial) pattern. This is what the original family showed: mask-like face, bulky/flat nose, abnormal tear puncta, etc. JAMA Network
Pashayan-like / overlapping phenotype (historically compared with Van Maldergem or cerebro-facio-articular syndrome). These share some facial features but add broader neurodevelopmental and skeletal findings and are now usually classified separately. This is mentioned here only to flag the differential diagnosis for clinicians. Wikipedia
Causes
Important note: The only established cause of classic Pashayan syndrome is a dominantly inherited, very rare genetic change with variable expression. The precise gene has not been confirmed in the original syndrome. The items below explain what can cause or influence the features that doctors actually see in patients with this diagnosis or when they evaluate for overlapping syndromes. I list them so families know what doctors think about, but only #1–#3 are “causes” in the strict sense for the classic syndrome.
Autosomal dominant mutation in an as-yet-unconfirmed gene affecting craniofacial development. This is the core cause based on family studies. JAMA Network+1
De novo mutation (new in the child). If parents are unaffected, the change may have arisen for the first time in the child. This is common in many rare dominant conditions. (General genetic principle; used clinically when family history is negative.)
Parental germline mosaicism. A parent can carry the change in a subset of their egg/sperm cells without obvious symptoms, allowing recurrence in siblings. (General clinical genetics principle for rare dominant disorders.)
Variable expressivity. The same genetic change can look mild in one person and more obvious in another. This explains why features differ in the same family. PubMed
Incomplete penetrance. A person may carry the change but show few or no obvious signs. (Explains “skipped” generations.) PubMed
Neural crest development disturbances. Many facial bones and soft tissues come from neural crest cells; disruption here can produce the mask-like face and nasal shape. (General mechanism invoked in craniofacial syndromes.)
Lacrimal drainage system maldevelopment. Narrow or displaced puncta and duct obstruction reflect developmental differences in the tear outflow tract. PubMed+1
Midface hypoplasia. Under-growth of midface structures can flatten the nasal bridge and alter facial expression. (Matches reported facial description.) JAMA Network
Soft-tissue muscle and connective-tissue differences. These may reduce facial animation and contribute to a “mask-like” look. (Explains clinical observation.) malacards.org
Digital (hand/finger) patterning differences. Developmental variation can cause syndactyly or other digital anomalies in some patients. Genetic Rare Diseases Center
Basal ganglia or extrapyramidal circuit involvement. This can underlie dystonia or abnormal movements occasionally reported. PubMed
Modifiers in other genes. Background genetic variation can make features milder or more severe (a common concept in rare disorders).
Epigenetic influences. Changes in gene regulation (not DNA sequence) can alter expression levels and contribute to variability.
Pregnancy factors that affect facial morphogenesis (for example, general conditions that influence placental function). These do not cause Pashayan syndrome but may shape how strongly features appear.
Nutritional factors in early development. As above, they do not cause the syndrome but can influence growth patterns.
Hearing-system development differences. Some families reported hearing impairment, suggesting developmental effects in the ear. PubMed
Neuromotor development differences. These may contribute to poor coordination or abnormal reflexes reported in some patients. CheckOrphan
Overlap with other craniofacial pathways. Doctors consider look-alike conditions (e.g., Waardenburg) because similar developmental pathways can produce similar traits. (Raised in the 3-generation family report.) PubMed
Environmental non-genetic causes (like infections or teratogens) do not explain the familial pattern here, but clinicians rule them out during evaluation to avoid missing treatable problems. (Standard clinical approach.)
Unknown/undiscovered gene(s). Because so few families exist, the exact molecular cause may still be undiscovered; ongoing rare-disease gene discovery may clarify this in the future. malacards.org
Symptoms and signs
Not every person has every feature. Severity varies.
Mask-like facial appearance. The face may look less expressive than usual. This comes from soft-tissue and muscle differences in the midface and around the eyes. Orpha+1
Bulky, flat, or broad nose with broad nasal bridge. The nose may look wide and flat. This is a hallmark facial sign. Wikipedia+1
Telecanthus. The inner corners of the eyes are set farther apart than usual, even when the distance between the pupils is normal. PubMed
Abnormal tear puncta (lateral displacement or narrowing). The tiny openings on the eyelids that drain tears can be out of place or too narrow. PubMed
Lacrimal duct obstruction. Because the drainage system is narrow or blocked, the eyes may water or tear frequently. Genetic Rare Diseases Center
Malformed or low-set ears. Ear shape can be unusual or under-developed, which adds to the facial pattern. Wikipedia
Trapezoidal upper lip or unusual lip shape. The upper lip can have a distinctive shape. PubMed
Horizontal cheek furrows. Some reports describe unusual lines or folds on the cheeks. CheckOrphan
Digital malformations (e.g., soft-tissue syndactyly). Fingers may be joined by soft tissue or otherwise different. Genetic Rare Diseases Center
Hyperextensible joints. Some people have very flexible joints. CheckOrphan
Poor coordination or motor delay. Coordination can be affected in some patients. CheckOrphan
Extrapyramidal features (e.g., dystonia). Some have movement abnormalities like torsion dystonia. PubMed
Positive Babinski sign (neurological sign). A few reports note abnormal reflex patterns compatible with central nervous system involvement. CheckOrphan
Hearing impairment. Some family members in reports had reduced hearing. PubMed
Learning or intellectual disability. Some patients have developmental or learning challenges. Genetic Rare Diseases Center
Diagnostic tests
Goal of testing: confirm the clinical pattern, assess function (eyes, hearing, movement), check safety (airway, feeding), and exclude look-alike conditions. Because the exact gene is not yet confirmed for classic Pashayan syndrome, testing focuses on clinical assessment and ruling out other diagnoses.
Physical examination
Detailed dysmorphology exam. A clinical geneticist measures facial proportions (eye spacing, nasal bridge width, lip shape), looks at ears and hands, and documents the mask-like appearance. This establishes the pattern needed for diagnosis. JAMA Network+1
Ophthalmologic slit-lamp exam. An eye doctor checks eyelids, puncta, and the ocular surface, looking for punctal displacement or stenosis and signs of excessive tearing. Early eye evaluation prevents complications. PubMed
Ear, nose, and throat (ENT) exam. The ENT doctor assesses nasal shape, septum, airway patency, and signs of chronic tearing flowing down the face due to blocked ducts. This links face shape with function. Genetic Rare Diseases Center
Neurologic exam. The clinician checks tone, reflexes (including Babinski), gait, and looks for dystonia or other movement issues. This helps map any extrapyramidal involvement. PubMed+1
Musculoskeletal/hand exam. The doctor looks for syndactyly or other digital differences and checks joint flexibility. This supports the “digital malformations” part of the phenotype. Genetic Rare Diseases Center
Growth and developmental assessment. Height, weight, head size, and developmental milestones are reviewed to catch delays and plan early supports. Genetic Rare Diseases Center
Manual / bedside procedures
Fluorescein dye disappearance test (FDDT). A drop of dye is placed in the eye. Slow clearance suggests poor tear drainage and supports lacrimal obstruction. (Standard lacrimal bedside test used when puncta are stenosed/displaced.) PubMed
Lacrimal punctal probing and irrigation. A thin probe and saline test whether the tear duct pathway is open or blocked. This is both diagnostic and sometimes therapeutic. PubMed
Audiology bedside screening (otoacoustic emissions). Quick screen suggests if formal hearing testing is needed, given reports of hearing impairment. PubMed
Bedside cranial nerve/facial movement assessment. Simple tasks (raise eyebrows, close eyes tight, smile) help document facial animation limits that contribute to the mask-like look. Orpha
Laboratory / pathological / genetic
Clinical genetics consultation with targeted or exome sequencing. Because a definitive gene for classic Pashayan is not established, testing aims to exclude overlapping syndromes (for example, entities with known genes that mimic the facial pattern). A negative result does not rule out Pashayan syndrome; the diagnosis remains clinical. malacards.org
Chromosomal microarray (CMA). Looks for larger deletions/duplications that could explain a Pashayan-like picture; useful in the differential work-up. (General rare-disease practice.)
Basic metabolic screen if developmental issues are prominent. While not specific to Pashayan syndrome, this checks for other treatable causes that could coexist. (Standard practice when intellectual disability is present.) Genetic Rare Diseases Center
Ophthalmic surface staining and tear tests. Helps document complications (e.g., exposure or epiphora-related irritation) if ducts are blocked. PubMed
Electrodiagnostic / functional studies
Formal audiology (behavioral audiogram) and/or ABR. Confirms degree and type of hearing loss if screening suggests a problem. This guides hearing supports. PubMed
EEG if seizures or atypical episodes occur. Not routine for everyone; used when history suggests. (General neurology approach.)
EMG or movement analysis if dystonia is significant. Helps plan therapy and medications if needed. (General movement-disorder care.)
Imaging
Dacryocystography (or dacryoscintigraphy). Contrast imaging of the tear drainage pathway shows where the blockage is and helps plan surgery if needed. PubMed
Craniofacial CT or MRI (case-by-case). Used for surgical planning or when airway, sinus, or skull-base questions arise. It documents midface structure and nasal bridge anatomy. (Imaging aligns with reported craniofacial differences.) JAMA Network
Temporal-bone CT or MRI when hearing loss is present. Checks the middle/inner ear structures to guide hearing management. (General otology practice given reported hearing issues.) PubMed
Non-pharmacological treatments (therapies & other care)
Tear-duct (Crigler) massage
What: Firm, short downward strokes at the inner corner of the eye. Purpose: To help open the membrane at the bottom of the tear duct and push mucus out, reducing watering and infection risk. Mechanism: The downward pressure raises sac pressure and can “pop” the blocked valve area, improving drainage. Families can learn this from an eye specialist; clean hands and gentle but firm technique are key. Often used in babies with congenital blockage, and it can reduce the need for early probing.Warm compress & lid hygiene
What: Clean, warm (not hot) compresses on lids; gentle cleaning of eyelid edges. Purpose: Loosens crusts, soothes irritation, and keeps the lid margin clean when discharge occurs from poor drainage. Mechanism: Heat softens oil and debris; wiping reduces bacteria and buildup that worsen tearing and irritation. Used together with massage and, if needed, short courses of antibiotics for acute discharge under medical guidance.Probing of the nasolacrimal duct
What: A smooth metal probe is passed through punctum → canaliculus → tear sac → nose. Purpose: Open the blocked tear-duct pathway if massage and observation fail. Mechanism: Mechanical opening of the membrane at the valve of Hasner; sometimes followed by irrigation. Success rates are high in infants; timing is individualized.Balloon dacryoplasty / silicone intubation
What: If simple probing is not enough, a tiny balloon dilates the duct or a soft tube (stent) is placed temporarily. Purpose: Keep the new pathway open and reduce re-blocking. Mechanism: Balloon stretches narrow segments; stents maintain patency during healing; used after failed initial probing or in older children.Dacryocystorhinostomy (DCR)
What: Surgical bypass between the lacrimal sac and nasal cavity. Purpose: Permanent solution for persistent nasolacrimal duct obstruction with tearing or repeated infections. Mechanism: Creates a new drainage route around the blocked duct (external or endonasal approach).Ptosis repair (eyelid-lifting surgery)
What: Tightening the levator muscle or using a frontalis suspension sling. Purpose: Raise a droopy eyelid that blocks vision or causes abnormal head posture; can also improve looks. Mechanism: Improves eyelid elevation to clear the eye’s visual axis; sling connects lid to forehead muscle when levator is very weak.Vision monitoring & amblyopia care
What: Regular pediatric ophthalmology checks; patching or glasses if amblyopia develops. Purpose: Protect sight in children when lid position, tear issues, or refractive errors risk “lazy eye.” Mechanism: Early detection and treatment (patching stronger eye; correcting refraction) let the weaker eye develop normal vision.Speech-language therapy
What: Assessment and therapy for speech, feeding or communication delays. Purpose: Support safe feeding in infancy (if oral/facial tone is weak) and improve speech clarity later. Mechanism: Exercise-based training to build oral-motor coordination and communication strategies; common in craniofacial syndromes with hypotonia. Genetic Rare Diseases CenterPhysical and occupational therapy
What: Muscle tone, posture, hand-use, and daily-skills training. Purpose: Address hypotonia and fine-motor issues (e.g., digit malformations). Mechanism: Task-specific practice and adaptive strategies to improve function and independence at home and school. Genetic Rare Diseases CenterSpecial education and developmental supports
What: Individualized Education Plans, learning aids, and behavioral supports if cognitive or motor delays are present. Purpose: Maximize learning and participation. Mechanism: Structured teaching, assistive technology, and therapy in school/daycare settings. Genetic Rare Diseases CenterGenetic counseling for family planning
What: Review inheritance patterns and testing options. Purpose: Help families understand autosomal-dominant transmission and variable expression. Mechanism: Risk calculation and informed choices for future pregnancies, including discussion of available testing modalities. Genetic Rare Diseases Center+1Hearing/ear care
What: Audiology screening, ENT evaluation for ear shape or middle-ear problems. Purpose: Optimize hearing and speech development. Mechanism: Early detection of conductive issues; timely ventilation tubes or therapy when needed. Genetic Rare Diseases CenterSun and wind protection for dry eye
What: Wraparound glasses, hats, humidifiers. Purpose: Reduce evaporation and irritation when tear film is poor due to drainage issues. Mechanism: Barrier protection and better ambient humidity conserve tears and comfort. Genetic Rare Diseases CenterBlink training / screen-time breaks
What: “20-20-20” breaks and conscious blinking with devices. Purpose: Reduce evaporative dryness during prolonged near work. Mechanism: Restores normal blink rate and helps spread tears across the surface. Genetic Rare Diseases CenterInfection prevention steps
What: Hand hygiene; avoid sharing towels; clean lids when discharge appears. Purpose: Lower risk of dacryocystitis (lacrimal sac infection). Mechanism: Reduces bacterial load around the eye in the setting of tear stagnation.Allergy reduction tactics
What: Indoor dust and pollen control; hypoallergenic bedding. Purpose: Decrease allergic conjunctivitis that can worsen tearing and rubbing. Mechanism: Less allergen exposure → less itch and inflammation. FDA Access DataNasal care for congestion
What: Saline sprays, humidification. Purpose: Keep nasal pathway moist and open to support tear outflow into the nose after duct procedures. Mechanism: Improves mucosal hydration; may ease post-op healing after DCR.Psychosocial support
What: Counseling and peer support for visible differences. Purpose: Build confidence and reduce stigma. Mechanism: Coping skills and social communication strategies improve quality of life. Genetic Rare Diseases CenterRegular ophthalmology follow-up
What: Ongoing checks of cornea, eyelids, and tear system. Purpose: Catch complications early (keratitis, infections, amblyopia). Mechanism: Timely treatment preserves sight and comfort. Genetic Rare Diseases CenterCare coordination (multidisciplinary)
What: Combine pediatrics, ophthalmology, ENT, genetics, PT/OT/SLT, and school services. Purpose: Integrated plan for complex needs. Mechanism: Team approach reduces gaps and duplication. Genetic Rare Diseases Center
Drug treatments
Cyclosporine ophthalmic 0.05% (RESTASIS®)
Class: Topical immunomodulator. Dose/Time: 1 drop in each eye BID, ~12 hours apart. Purpose: Increase tear production in inflammatory dry eye. Mechanism: Reduces ocular surface T-cell inflammation so lacrimal glands make more tears. Side effects: Burning, stinging, redness; rare infection risk if tip contaminated. Note: Not specifically for Pashayan syndrome—used when dry eye features are present. FDA Access DataCyclosporine ophthalmic (multidose RESTASIS®)
Similar indication and dosing as above, using the multidose bottle; same mechanism and cautions about contact lenses and contamination. Useful for chronic ocular dryness with inflammatory features; clinician decides if appropriate. FDA Access DataLifitegrast 5% (Xiidra®)
Class: LFA-1 antagonist. Dose/Time: 1 drop BID ~12 hours apart. Purpose: Treat signs and symptoms of dry eye disease. Mechanism: Blocks LFA-1/ICAM-1 binding, lowering ocular surface inflammation. Side effects: Transient irritation, dysgeusia (unusual taste), blurred vision. FDA Access Data+1Olopatadine ophthalmic (Pataday®/Patanol® family)
Class: Antihistamine/mast-cell stabilizer. Dose/Time: Label examples include QD (0.2%) or BID (0.1%)—follow product label. Purpose: Relieve ocular itching with allergic conjunctivitis that can worsen tearing. Mechanism: Blocks histamine H1 receptors and stabilizes mast cells. Side effects: Transient irritation; contact lens precautions. FDA Access Data+1Moxifloxacin ophthalmic (Vigamox®/Moxeza®)
Class: Fluoroquinolone antibiotic eye drops. Dose/Time: Per label (e.g., TID for 7 days—see product). Purpose: Treat bacterial conjunctivitis/keratitis when infection complicates poor drainage. Mechanism: Inhibits bacterial DNA gyrase/topoisomerase. Side effects: Local irritation; avoid contact lenses during infection. FDA Access Data+1Ciprofloxacin ophthalmic (Ciloxan®)
Class: Fluoroquinolone antibiotic (solution/ointment). Dose/Time: Per label; ointment useful at night. Purpose: Treat bacterial eye infections including dacryocystitis-related discharge under clinician care. Mechanism: Inhibits DNA gyrase. Side effects: Local burning, white crystalline precipitates possible. FDA Access Data+1Erythromycin ophthalmic ointment
Class: Macrolide antibiotic (ophthalmic). Dose/Time: Typically QHS or per clinician for lid margin hygiene and mild bacterial conjunctivitis. Purpose: Reduce bacterial load around lids/tear lake. Mechanism: Inhibits bacterial protein synthesis. Side effects: Blurred vision after application, irritation. (Representative erythromycin topical labels exist; ophthalmic labeling details vary by manufacturer.) FDA Access DataAmoxicillin-clavulanate (Augmentin®) oral
Class: β-lactam/β-lactamase inhibitor. Dose/Time: Per age/weight; typical BID regimens. Purpose: Treat acute dacryocystitis or cellulitis from tear-stagnation infections. Mechanism: Kills susceptible bacteria and blocks β-lactamase resistance. Side effects: GI upset, rash; rare hepatotoxicity—medical supervision essential. FDA Access Data+1Fluticasone nasal spray (Flonase®)
Class: Intranasal corticosteroid. Dose/Time: QD or BID per label. Purpose: Lower nasal mucosal swelling that can worsen drainage/epiphora after ENT review. Mechanism: Local anti-inflammatory in nasal mucosa. Side effects: Epistaxis, irritation; use as directed. FDA Access Data+1Azelastine nasal spray (Astelin®)
Class: Intranasal antihistamine. Dose/Time: Per label (usually BID). Purpose: Control nasal allergy symptoms that exacerbate tearing and rubbing. Mechanism: H1 receptor blockade locally. Side effects: Bitter taste, nasal irritation, drowsiness. FDA Access DataShort topical antibiotic courses for conjunctival discharge
Besides macrolides/fluoroquinolones noted above, other agents can be chosen based on culture or local patterns under clinician guidance; they are symptom-targeted, not disease-specific.Short topical steroid courses (specialist-guided)
In selected cases of significant ocular surface inflammation (not infection), brief ophthalmic steroid use may be considered by specialists alongside antibiotics or immunomodulators; risks (pressure rise, cataract) require supervision.Analgesics (as needed)
Prescription labels exist for many analgesics; clinicians select the safest option (e.g., acetaminophen) for post-procedure discomfort; avoid NSAIDs in specific contraindications. (General label-guided use; not syndrome-specific.)Lubricating gels/ointments at night
Thicker ocular lubricants reduce nighttime exposure symptoms. They are usually OTC, not on FDA prescription-label pages, but widely used in dry eye care to protect the cornea overnight. Genetic Rare Diseases CenterSaline nasal sprays
OTC isotonic saline helps nasal moisture; helpful after endonasal DCR to keep mucosa comfortable. Not drug-label specific but common supportive care.Antihistamine eye drops (olopatadine family, higher strengths)
Options like olopatadine 0.7% exist; dosing per label; useful when allergic itch worsens tearing. Mechanism/SEs as above. FDA Access Data+1Contact-lens hiatus during infections
Temporarily stopping contact-lens wear during active conjunctivitis/keratitis reduces risk of complications per antibiotic labels and standard eye-care guidance. FDA Access DataPost-op nasal care (after DCR)
ENT/ophthalmic surgeons may advise saline, topical meds, or decongestants (short term) per standard post-op protocols to keep the ostium patent—always surgeon-directed.Taste disturbance counseling with lifitegrast
Dysgeusia is common; counseling improves adherence. Symptom profile from the label helps set expectations. FDA Access DataContact-lens timing with immunomodulators
Remove lenses before drops like lifitegrast and wait before reinsertion (e.g., 15 minutes in label); this reduces discomfort and contamination. FDA Access Data
Dietary molecular supplements
Vitamin A (preformed and carotenoids)
Vitamin A supports surface tissues (including the eye), immunity, and development. In people with deficiency, repletion improves ocular surface health and night vision. Mechanistically, retinoids regulate epithelial cell differentiation and mucin production that stabilize the tear film. However, excess vitamin A is harmful (teratogenic, liver toxicity). Use only within recommended daily intake unless a clinician prescribes otherwise, and avoid high-dose beta-carotene in smokers due to lung-cancer risk. Food sources include liver (very high), dairy, and orange/green vegetables (carotenoids).Lutein + Zeaxanthin
These macular pigments are antioxidants concentrated in the retina. While AREDS2 focused on age-related macular degeneration (not Pashayan syndrome), its data inform safety and general ocular antioxidant use: lutein/zeaxanthin replaced beta-carotene in the improved formula and was associated with benefits in AMD progression vs beta-carotene and lower lung-cancer risk in former smokers. Mechanistically, they filter blue light and quench reactive oxygen species. Dose and combinations vary; avoid assuming benefit for unrelated eye issues, but they are reasonable as part of a balanced, clinician-guided regimen.Omega-3 fatty acids (EPA/DHA)
Omega-3s influence meibomian gland lipids and ocular surface inflammation. Yet in the large DREAM trial, omega-3 supplements did not outperform placebo for dry eye symptoms, so expectations should be modest. They remain heart-healthy fats from fish (e.g., salmon, sardines) and may still help individuals with low dietary intake. Mechanism: anti-inflammatory lipid mediators (resolvins/protectins) and altered tear lipid layer. Use food first; supplement only if a clinician agrees.Hyaluronic acid (oral/ocular)
Topically (in drops), HA holds water, stabilizes tears, and protects the corneal surface. Reviews and newer trials suggest symptom relief in dry eye versus non-HA solutions; one 2024 RCT even found laughter exercises non-inferior to 0.1% HA (showing the effect size is moderate). Oral HA evidence for eyes is limited; drops are preferred. Mechanism: high water-binding capacity and epithelial protection.Vitamin D
Vitamin D modulates immunity and epithelial health. While not eye-specific therapy, adequate vitamin D status supports general health, bone growth, and immune function—important in children with complex conditions. Mechanism: nuclear receptor signaling affecting cytokines and barrier integrity. Check levels and supplement only as advised to avoid toxicity.Antioxidant multivitamin (age-appropriate doses)
A standard pediatric or adult multivitamin may cover common shortfalls (A, C, E, zinc) without high doses. Mechanism: reduces oxidative stress burden; no direct evidence for Pashayan outcomes, but supports general nutrition where intake is limited by feeding issues. Avoid megadoses.Zinc
Zinc is essential for cell repair, immunity, and ocular enzyme function. Mechanistically, it acts as a cofactor for many enzymes and supports epithelial healing. Excess causes copper deficiency and GI effects; use diet-based intake (meat, legumes, nuts) unless a clinician recommends supplements.Probiotics
By shaping gut microbiota, probiotics may influence systemic inflammation and infection risk. Eye-specific evidence is limited, but for children prone to antibiotics, probiotic foods (yogurt with live cultures) can be considered unless contraindicated. Mechanism: microbial competition, barrier support, and immune signaling. Choose reputable products and monitor tolerance.Curcumin (with bioavailability enhancers)
Curcumin has anti-inflammatory and antioxidant actions via NF-κB and cytokine pathways. While eye-specific outcomes are limited, some patients use it for general inflammatory balance. Watch for drug interactions (anticoagulants) and GI upset. Use food sources (turmeric in meals) or standardized products only after clinician approval.Bilberry/anthocyanins
Plant pigments with antioxidant effects; popular for “eye health.” Evidence is mixed; they are not a treatment for tear-duct obstruction or eyelid malposition, but may be part of a balanced antioxidant diet. Mechanism: free-radical scavenging and microvascular support. Use dietary berries first; supplements only if approved.
Drugs immunity boosters / regenerative / stem-cell
Hematopoietic stem-cell products
These are approved for specific blood/immune diseases, not for craniofacial malformations. Unregulated “stem-cell” offerings can be risky. Mechanism would involve tissue replacement, but there is no evidence for reversing facial/tear-duct anatomy in Pashayan syndrome. Discuss only within approved indications in clinical trials. Genetic Rare Diseases CenterTopical growth-factor eye drops (investigational in some regions)
Some small studies explore growth factors for corneal healing, but they are not standard for congenital tear-duct disease or ptosis. Mechanism: epithelial/trophic support. Use only in trials/specialist care. Genetic Rare Diseases CenterSystemic “immune boosters” (various blends)
Over-the-counter blends lack strong evidence and may interact with medicines. Mechanism claims (general immune “activation”) are nonspecific. Focus on vaccines, sleep, nutrition, and hand hygiene instead.Platelet-rich plasma (PRP) eye drops
Investigational for severe ocular surface disease in selected cases, prepared under strict protocols—not for fixing tear-duct blockage. Mechanism: growth factors supporting epithelial repair. Specialist-only if considered. Genetic Rare Diseases CenterMesenchymal stem-cell infusions
Promoted online but not FDA-approved for congenital eyelid/tear anomalies; potential serious risks (infections, immune reactions). Avoid outside legitimate trials. Genetic Rare Diseases Center“Regenerative” nutraceutical stacks
Often contain polyphenols, peptides, or amino acids with broad claims; evidence for structural eyelid/duct change is lacking. Choose food-first strategies and clinician-guided supplementation.
Surgeries (procedure & why done)
Nasolacrimal duct probing/irrigation
Procedure: Pass fine probes through the natural drainage pathway; irrigate to confirm flow. Why: First-line invasive step when massage/observation fail—especially after ~8–10 months when spontaneous resolution declines.Balloon dacryoplasty
Procedure: Inflate a tiny balloon within the duct to widen it. Why: For persistent or complex obstructions or after failed probing; improves patency in selected cases.Silicone intubation (stenting)
Procedure: Place a temporary thin silicone tube through the drainage system. Why: Keeps the pathway open during healing and reduces re-blockage. Often combined with probing in older children or repeat cases.Dacryocystorhinostomy (external or endoscopic)
Procedure: Create a new passage from the lacrimal sac to the nose, bypassing the blocked duct. Why: For chronic tearing/infections that do not respond to less invasive methods.Ptosis repair (levator resection or frontalis sling)
Procedure: Tighten the eyelid elevator or link the lid to the forehead muscle with a sling. Why: Prevent amblyopia, normalize head posture, and improve appearance in droopy lids.
Preventions
Hand hygiene to lower conjunctivitis/dacryocystitis risk when drainage is poor.
Avoid eye rubbing; use cold compresses or allergy drops for itch per clinician. FDA Access Data
Allergen control at home (dust/pollen strategies) to reduce ocular itch and tearing. FDA Access Data
Protective eyewear outdoors to shield from wind/sun and reduce evaporation. Genetic Rare Diseases Center
Regular pediatric eye checks to detect amblyopia/refractive error early.
Follow massage/after-care instructions precisely when prescribed.
Use drops correctly (no tip touching; lens removal timing per label) to avoid contamination and irritation. FDA Access Data
Prompt care for redness, swelling, fever—possible dacryocystitis emergency.
Post-op nasal/eye care adherence after DCR or ptosis surgery for best results.
Team-based follow-up (ophthalmology/ENT/genetics/therapies) to prevent missed issues. Genetic Rare Diseases Center
When to see doctors
Seek urgent care for a painful, red swelling at the inner lower eyelid with fever or pus (possible dacryocystitis), sudden drop in vision, severe eye pain, or signs of cellulitis. Arrange prompt specialist visits for persistent tearing beyond infancy, recurrent discharge, lid droop covering the pupil, head-tilting to see, eye crossing, or delays in speech/hearing. Regular follow-up helps protect vision and comfort while planning the right timing for procedures like probing, intubation, or DCR if needed.
What to eat & what to avoid
Eat a varied diet with colorful fruits/vegetables for natural antioxidants (lutein/zeaxanthin from leafy greens; carrots for carotenoids). Avoid megadose beta-carotene if you are a smoker or former smoker.
Eat oily fish (salmon, sardines) 1–2×/week for omega-3s; avoid assuming fish-oil pills will fix dry eye (DREAM trial found no clear benefit).
Eat zinc-rich foods (beans, nuts, lean meats) within normal intake; avoid high-dose zinc without supervision (can lower copper).
Use adequate vitamin A foods; avoid high-dose supplements unless prescribed (toxicity risk).
Hydrate well; avoid overly dry indoor air—use a humidifier in dry seasons to help eyes. Genetic Rare Diseases Center
Include probiotic foods if tolerated; avoid unverified “immune-booster” claims.
Use cooking spices like turmeric within meals if you enjoy them; avoid supplement mega-doses without clinical advice.
Balance screen time with breaks to limit evaporative dryness; avoid long stretches without blinking. Genetic Rare Diseases Center
Consider doctor-advised ocular lubricants; avoid contaminated bottles and expired drops. FDA Access Data
Follow post-op diet as your surgeon advises; avoid spicy/irritating foods temporarily if they worsen nasal/ocular discomfort after DCR.
FAQs
1) Is Pashayan syndrome the same as “blepharo-naso-facial” syndrome?
Yes—these names refer to the same rare condition; “blepharonasofacial malformation syndrome” is another term. Genetic Rare Diseases Center+1
2) How is it inherited?
Most reports describe autosomal dominant inheritance with variable severity, though the exact gene is unclear in many families. Genetic Rare Diseases Center+1
3) What are common features?
Mask-like face, broad/flat nose, tear-duct blockage, eyelid/ear differences, possible finger/toe anomalies, and sometimes learning or movement issues. Genetic Rare Diseases Center+1
4) Is there a cure?
No single curative drug or surgery exists; care targets each problem—tear drainage, eyelids, vision, and development. Genetic Rare Diseases Center
5) Do babies outgrow tear-duct blockage?
Many congenital blockages improve in the first year; massage may help. Persistent cases can need probing/intubation.
6) When is probing done?
Often after about 8–10 months if tearing persists; timing varies by specialist and child.
7) What is DCR?
Dacryocystorhinostomy creates a new route from the lacrimal sac to the nose to bypass a blocked duct.
8) Is ptosis surgery necessary?
It’s advised if the eyelid blocks vision or causes abnormal head posture; methods include levator tightening or frontalis sling.
9) Which eye drops help dryness?
Lubricants, and in inflammatory dry eye, cyclosporine or lifitegrast can help under supervision; these are not specific treatments for Pashayan syndrome. FDA Access Data+1
10) Are antibiotics always needed for discharge?
No—only for signs of infection. Overuse is discouraged; cleaning, massage, and targeted short courses are typical.
11) Are “stem-cell” infusions recommended?
No—there is no approved stem-cell therapy for these craniofacial/tear-duct issues; avoid unregulated treatments. Genetic Rare Diseases Center
12) Do supplements fix tear-duct blockage?
Supplements do not open a blocked duct. Nutrition supports general health; procedures address mechanical blockage.
13) Do omega-3 pills cure dry eye?
Large trials found no clear benefit versus placebo; food-based omega-3 intake is still healthy.
14) Is there a patient count or registry?
The condition is extremely rare (GARD estimates <1,000 individuals in the U.S. for this entry), and information is limited. Genetic Rare Diseases Center
15) Which specialists should be on the care team?
Pediatric ophthalmology, oculoplastics, ENT, pediatrics, genetics, PT/OT/SLT, audiology, and school supports. Genetic Rare Diseases Center
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The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: October 28, 2025.
