nternational Journal For Multidisciplinary Research

Author(s)	Dr. Chandana Kakumanu, Dr. Ketaki Nawlakhe, Dr. Prathik Bandiya, Dr. Niranjan Shivann
Country	India
Abstract	Waardenburg–Shah syndrome (WS type IVB) is a rare congenital neurocristopathy combining features of Waardenburg syndrome and Hirschsprung disease due to defective neural crest cell migration. Mutations in the EDN3 gene disrupt endothelin signaling, impairing melanocyte and enteric neuron development. Fewer than a dozen cases have been genetically confirmed. We report a female neonate, 38 weeks gestation, 2.2 kg, born to a third-degree consanguineous couple, presenting with failure to pass meconium. Examination showed a white forelock, gray irides, right-hand hypopigmentation, and anterior ectopic anus. Radiology and biopsy confirmed Hirschsprung disease. The infant underwent exploratory laparotomy, ileostomy, and revision for non-functioning stoma. Whole-exome sequencing revealed a pathogenic EDN3 variant, confirming WS type IVB. She improved gradually and was discharged in stable condition on day 52. This case highlights the importance of early recognition of pigmentary anomalies, timely genetic evaluation, and coordinated management for favorable outcomes in this rare disorder.
Keywords	Waardenburg–Shah Syndrome Type IVB, Poliosis, Hypopigmentation, Hirschsprung Disease
Field	Biology > Genetics / Molecular
Published In	Volume 8, Issue 1, January-February 2026
Published On	2026-01-20
DOI	https://doi.org/10.36948/ijfmr.2026.v08i01.67062

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International Journal For Multidisciplinary Research