Waardenburg–anophthalmia syndrome associated with an SMOC1 start- loss variant: a case report

A 3-month-old boy born to consanguineous parents was evaluated for right-sided anophthalmia. Systemic examination demonstrated bilateral upper-limb clinodactyly and lower-limb oligodactyly, consistent with a limb-eye developmental disorder. B-scan ultrasonography confirmed the complete absence of intraocular structures in the right orbit, with normal anatomy in the left eye. Genetic analysis identified a homozygous start-loss variant in the SMOC1 gene on chromosome 14, predicted to abolish the initiation codon. This variant is associated with the OMIM phenotype "microphthalmia with limb anomalies" (MLA) and follows an autosomal recessive inheritance pattern.This case broadens the phenotypic and geographic spectrum of SMOC1-related Waardenburg anophthalmia syndrome. Early identification is critical for timely orbital rehabilitation, anticipatory multidisciplinary management, and targeted genetic counseling, particularly in populations with high rates of consanguinity.