Expanding The Senior-Løken Syndrome Spectrum: Combined Rothmund-Thomson Features Unveil The Distinct Teelwani Syndrome Phenotype

This document discusses a unique case of Senior-Løken Syndrome (SLSN) in a 22-year-old male with a NPHP4 mutation, presenting an atypical phenotype that includes features not traditionally associated with SLSN, such as cryptorchidism, cicatricial alopecia, and webbed toes. The presence of a homozygous RECQL4 variant suggests a possible overlap with Rothmund-Thomson Syndrome type 2, indicating a broader ciliopathy spectrum or novel syndromic overlap. The case underscores the need for expanded genetic analysis to understand the molecular mechanisms and highlights the importance of considering digenic inheritance and novel pathways in diagnosing and managing rare genetic syndromes.