Witteveen-Kolk Syndrome: Two Patients With Craniofacial Features and Novel SIN3A Variants.

Authors

Bennett Cleff, Ellen Wang, Jessica Bolen, Anthony Basta, Tien Do, Paul R Hillman, Jacqueline T Hecht, Matthew Greives, Emily Hansen-Kiss

Published in

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. Pages 10556656261494180. Oct 09, 2026. Epub Oct 09, 2026.

Abstract

Witteveen-Kolk syndrome (WKS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic SIN3A variants, with diagnosis complicated by variable physical findings. We describe two unrelated patients with de novo SIN3A variants identified through trio whole exome sequencing, expanding the phenotype of WKS. Patient 1, a 16-year-old female, presented with bilateral cleft lip and palate, retained primary teeth, and horseshoe kidney: findings not previously reported in WKS. Patient 2, a 5-year-old male, exhibited macrocephaly and obesity, also novel to the WKS phenotype. These findings broaden the recognized clinical spectrum of WKS, supporting earlier and accurate diagnosis, and improved genetic counseling.

PMID:
42852986
Bibliographic data and abstract were imported from PubMed on 09 Oct 2026.

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