EC Paediatrics

Ellis-Van Creveld syndrome (EVCS) is a rare autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects in approximately 50% - 60% of affected individuals. Early diagnosis is essential for appropriate neonatal management and genetic counseling. We report the case of a premature female neonate born at 34 weeks of gestation to first-degree consanguineous parents. At birth, she presented with postaxial polydactyly, nail dysplasia, sparse light-colored hair, a short neck, a narrow thorax, and moderate ascites. Laboratory investigations were unremarkable, and both cardiac and abdominal ultrasonography showed no abnormalities. The diagnosis of Ellis-Van Creveld syndrome was confirmed by genetic testing. The newborn received supportive neonatal care with close respiratory and nutritional monitoring and remained clinically stable during hospitalization. This case highlights the importance of recognizing the characteristic clinical features of Ellis-Van Creveld syndrome during the neonatal period, even in the absence of congenital heart disease, to facilitate early diagnosis, multidisciplinary management, and appropriate genetic counseling.

Keywords: Ellis-Van Creveld Syndrome; Neonate; Postaxial Polydactyly; Ectodermal Dysplasia; Congenital Anomalies

1. Ellis RW and van Creveld S. “A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases”. Archives of Disease in Childhood 82 (1940): 65-84.
2. Mahoney MJ and Hobbins JC. “Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound”. New England Journal of Medicine 5 (1977): 258-260.
3. Allouche M., et al. “Ellis-Van Creveld syndrome revealed by sudden death”. Cardiologie Tunisienne 4 (2012): 263-265.
4. Ruiz-Perez VL., et al. “Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis”. Nature Genetics 3 (2000): 283-286.
5. Baujat G and Le Merrer M. “Ellis-van Creveld syndrome”. Orphanet Journal of Rare Diseases 2 (2007): 27.
6. Chen CP., et al. “Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling”. Taiwanese Journal of Obstetrics and Gynecology 4 (2010): 481-486.
7. Mckusick VA., et al. “Dwarfism in the Amish I. The Ellis-Van Creveld syndrome”. Bulletin of the Johns Hopkins Hospital 115 (1964): 306-336.
8. Sund KL., et al. “Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease”. Human Molecular Genetics 10 (2009): 1813-1824.
9. Alves-Pereira D., et al. “Ellis-van Creveld syndrome. Case report and literature review”. Medicina Oral, Patologia Oral, Cirugia Bucal 7 (2009): E340-E343.
10. Asif S., et al. “Ellis-van Creveld syndrome in a neonate: a case report”. Journal of the Pakistan Medical Association 3 (2023): 687-689.
11. Hameed M., et al. “Ellis-van Creveld syndrome: a case report”. Journal of the Pakistan Medical Association 2 (2024): 391-393.
12. Altunoglu U., et al. “Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis”. Journal of Medical Genetics 7 (2024): 633-644.
13. Da Silva Jorge Diogo., et al. “Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions”. Genetics in Medicine Open 1 (2023): 100781.
14. Thomas Davis C., et al. “Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis-van Creveld syndrome”. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics1 (2022): 36-46.