Abstract Background: Du Pan Syndrome (DPS) (OMIM 228900) is a rare autosomal recessive skeletal dysplasia caused by variants in the GDF5 gene. It is distinguished by complex brachydactyly and fibular aplasia/hypoplasia, a type of acromesomelic dysplasia. Clinical Description: A term male neonate born out of third-degree consanguineous marriage, presented with abnormalities of the digits of the upper and lower limbs. Antenatal scans had detected soft tissue swelling around the second great toe. Examination revealed a length C(p.Leu441Pro) was discovered by whole-exome sequencing. The neonate was managed conservatively. Genetic counselling was provided to the parents. On follow-up, the infant had normal neurodevelopment with persistent brachydactyly. Conclusion: This case broadens the phenotypic spectrum of DPS by demonstrating a new vascular phenotype, suggesting the possible role of the GDF5 gene in angiogenesis.
Tanpure et al. (2026) studied this question.