Van den Ende-Gupta syndrome

Van den Ende-Gupta syndrome (VDEGS), also known as blepharophimosis-arachnodactyly-like anomalies syndrome, is an extremely rare autosomal recessive genetic disorder characterized by a distinctive combination of craniofacial, skeletal, and ocular anomalies. The condition is caused by mutations in the SCARF2 gene (also known as MEGF6), which encodes a scavenger receptor involved in developmental signaling pathways. Key clinical features include blepharophimosis (narrowing of the eye opening), a flat and elongated midface, a narrow and beaked nose, and everted lower lip. Skeletal abnormalities are prominent and include arachnodactyly (long, slender fingers), camptodactyly (fixed flexion of finger joints), joint contractures, and distinctive changes in the long bones. Additional features may include a high-arched or narrow palate, malar hypoplasia (underdeveloped cheekbones), and mild short stature. Intelligence is typically normal in affected individuals. There is no specific cure or targeted therapy for Van den Ende-Gupta syndrome. Management is supportive and symptomatic, focusing on orthopedic interventions for skeletal abnormalities, ophthalmologic care for eye-related features, and surgical correction of craniofacial anomalies when indicated. Regular multidisciplinary follow-up involving clinical genetics, orthopedics, ophthalmology, and craniofacial specialists is recommended. The prognosis is generally favorable, as the condition does not typically affect cognitive development or life expectancy.

Common questions about Van den Ende-Gupta syndrome