Gorlin-Chaudhry-Moss syndrome

Gorlin-Chaudhry-Moss syndrome (GCM syndrome) is an extremely rare genetic disorder characterized by a distinctive combination of craniofacial, ocular, dental, and skeletal abnormalities along with hypertrichosis (excessive hair growth). The condition was first described by Gorlin, Chaudhry, and Moss in 1960. Key clinical features include coronal craniosynostosis (premature fusion of skull sutures), midface hypoplasia (underdevelopment of the middle portion of the face), patent ductus arteriosus or other congenital heart defects, eye anomalies such as microphthalmia (abnormally small eyes) and lid colobomas, hypoplasia of the labia majora, and dental anomalies including hypodontia and microdontia. Affected individuals typically present with short stature and generalized hypertrichosis, which is often one of the most noticeable features. The syndrome affects multiple body systems including the craniofacial skeleton, eyes, teeth, cardiovascular system, skin, and external genitalia. Intelligence is generally reported as normal in affected individuals, though developmental delays have been noted in some cases. The condition has been linked to mutations in the SLC25A24 gene, which encodes a mitochondrial carrier protein involved in energy metabolism. This gene plays a role in calcium-dependent mitochondrial transport, and its dysfunction is thought to contribute to the multisystem manifestations observed in this syndrome. There is currently no cure for Gorlin-Chaudhry-Moss syndrome, and management is symptomatic and supportive. Treatment typically involves a multidisciplinary approach including craniofacial surgery for craniosynostosis, cardiac surgery if congenital heart defects are present, ophthalmologic management for eye abnormalities, and dental interventions. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, only a small number of cases have been reported in the medical literature, making comprehensive understanding of the natural history and optimal management strategies challenging.

Common questions about Gorlin-Chaudhry-Moss syndrome