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Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome
Author(s) -
Zgheib Omar,
Jacques Léa,
Frizon Louise,
Windisch Gabriela,
Fokstuen Siv
Publication year - 2025
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.14711
Subject(s) - syndactyly , polydactyly , frameshift mutation , supernumerary , dysostosis , medicine , anatomy , phenotype , genetics , biology , surgery , congenital disease , gene
ABSTRACT STAR syndrome is a very rare X‐linked dominant disorder characterized by the association of toe syndactyly, facial dysmorphism including telecanthus and a broad nasal tip, and anogenital and renal malformations. We hereby report a patient with a novel frameshift mutation in CCNQ , the STAR syndrome causative gene. More importantly, the patient presented hitherto unreported clinical features, namely toe polydactyly in addition to syndactyly, and a supernumerary nipple. This nineteenth reported case further broadens the phenotypic spectrum of STAR syndrome.