GMS syndrome

GMS syndrome (Goltz-Gorlin syndrome, also referred to as Gorlin-Chaudhry-Moss syndrome) is an extremely rare congenital disorder characterized by a distinctive combination of craniofacial, ocular, dental, and skeletal abnormalities. The condition was first described by Gorlin, Chaudhry, and Moss, and is classified under Orphanet code 2090. Key clinical features include craniosynostosis (premature fusion of skull bones), midface hypoplasia (underdevelopment of the middle portion of the face), hypertrichosis (excessive hair growth), patent ductus arteriosus or other congenital heart defects, and eye abnormalities such as microphthalmia or coloboma. Dental anomalies including hypodontia and delayed eruption are also commonly reported. Affected individuals may present with short stature, hearing impairment (often conductive), and genital anomalies. The craniofacial features can lead to functional problems including upper airway obstruction and feeding difficulties in infancy. Intelligence is typically normal, though developmental delays have been reported in some cases. There is no specific curative treatment for Gorlin-Chaudhry-Moss syndrome. Management is multidisciplinary and symptomatic, involving craniofacial surgery for craniosynostosis, cardiac surgery if congenital heart defects are hemodynamically significant, ophthalmologic care, dental management, and audiologic monitoring. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, the natural history and long-term prognosis remain incompletely characterized.

Common questions about GMS syndrome