Hallermann–Streiff syndrome: A systematic review of the published literature

Background Hallermann–Streiff syndrome is an extremely rare congenital disorder characterized by craniofacial dysmorphism, ocular abnormalities, hypotrichosis, and mandibular hypoplasia, frequently associated with complex airway challenges. No prior systematic review has comprehensively evaluated airway, ophthalmologic, and craniofacial manifestations together. This review synthesizes clinical phenotypes, management strategies, and outcomes from published cases. Methods A systematic search of PubMed, Scopus, Embase, and ScienceDirect identified 42 records following PRISMA 2020 guidelines. After screening, 15 studies comprising 32 cases were included. Extracted data included demographics, airway involvement, ophthalmologic findings, craniofacial/orodental anomalies, interventions, and outcomes. Risk of bias was assessed using the JBI checklist for case reports. Results Airway involvement was reported in over half of cases, ranging from mild obstruction to life-threatening respiratory compromise requiring tracheostomy or specialized anesthetic management. Ophthalmologic abnormalities were common, including congenital cataracts (76%), microphthalmia (65%), and strabismus (59%). Craniofacial anomalies such as micrognathia (88%) and mandibular hypoplasia (82%) were consistently observed. One report documented three-generation familial inheritance. Interventions were multidisciplinary, with most cases showing partial improvement, although severe neonatal respiratory failure remained fatal. Conclusions Hallermann–Streiff syndrome presents with a characteristic triad of craniofacial, airway, and ophthalmologic abnormalities requiring coordinated multidisciplinary care and long-term follow-up.