# FITM2‐Related Siddiqi Syndrome in Two Iranian Siblings

## TL;DR

Two Iranian siblings with a rare genetic disorder called Siddiqi syndrome are reported, showing new insights into the condition's genetic and geographic diversity.

## Contribution

The study identifies a novel FITM2 variant in Iranian siblings, expanding the known genetic and geographic spectrum of Siddiqi syndrome.

## Key findings

- The siblings exhibited hallmark features of Siddiqi syndrome, including hearing loss, dystonia, growth failure, and ichthyosis.
- A novel likely pathogenic variant in the FITM2 gene was identified in both siblings.
- This report expands the geographic and genetic understanding of Siddiqi syndrome.

## Abstract

We report the first two Iranian siblings with Siddiqi syndrome, carrying a novel likely pathogenic FITM2 variant. Both presented with hallmark features, including early‐onset sensorineural hearing loss, severe generalized dystonia, growth failure, and ichthyosis of the lower limbs, expanding the geographic and genetic spectrum of this rare disorder.