Toe Polydactyly and Supernumerary Nipple: Broadening the Phenotypic Spectrum of STAR Syndrome.

Abstract excerpt

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...

Topics

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• Abnormalities, Multiple
• Frameshift Mutation
• Infant
• Phenotype
• Polydactyly