Blepharonasofacial malformation syndrome

Blepharonasofacial malformation syndrome (BNFMS), also known as Pashayan syndrome, is an extremely rare congenital disorder characterized by a distinctive combination of facial, nasal, and eyelid abnormalities. The condition was first described by Pashayan and colleagues in 1973. Key clinical features include telecanthus (widely spaced inner corners of the eyes), a broad and flat nasal bridge, S-shaped or laterally deviated nostrils, mask-like facial appearance with midface hypoplasia, and blepharophimosis (narrowing of the eye openings). Additional features may include a trapezoidal upper lip, torsion of the nose, and soft doughy skin. Some affected individuals may also present with mild intellectual disability, short stature, and hand anomalies such as brachydactyly or clinodactyly. The syndrome primarily affects craniofacial structures, including the eyelids, nose, and midface region. Skeletal and dermatologic systems may also be involved. The condition is present from birth, and the characteristic facial features are typically recognizable in the neonatal or early infantile period. There is no specific curative treatment for blepharonasofacial malformation syndrome. Management is supportive and symptomatic, potentially involving surgical correction of eyelid or nasal abnormalities, developmental support for those with intellectual disability, and regular monitoring of growth. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, clinical knowledge is based on a very limited number of reported cases in the medical literature.

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