Pashayan syndrome
MeSH: C536303ORPHA: 1252
Overview
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Pashayan syndrome, sourced from HPO and Orphanet clinical annotations.
Joint hypermobilityAbnormal pinna morphologyMask-like faciesLong philtrumUnderdeveloped nasal alaeWide nasal bridgeWide noseTelecanthusBlepharophimosisLacrimation abnormalityThickened skinTorsion dystoniaRedundant skinFinger syndactylyCleft palateEpicanthusHearing impairmentAbnormal eyelash morphologyIntellectual disabilityHyperreflexiaSparse lateral eyebrowNon-midline cleft of the upper lipInguinal herniaCryptorchidismOptic atrophyAbnormality of the voiceLow posterior hairlineTooth agenesis
Classification & Codes
MeSH Code
C536303Orphanet Code
ORPHA:1252Pashayan syndrome
| MeSH | C536303 |
| Orphanet | ORPHA:1252 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO