# Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge

## TL;DR

This paper presents a rare case of a woman with Hajdu-Cheney syndrome and rheumatoid arthritis, highlighting the challenges in diagnosing overlapping conditions.

## Contribution

The novelty lies in the rare coexistence of Hajdu-Cheney syndrome and rheumatoid arthritis, emphasizing diagnostic complexities.

## Key findings

- The patient exhibited clinical and radiological features consistent with Hajdu-Cheney syndrome.
- Inflammatory arthritis was also present, complicating the differential diagnosis.
- Genetic confirmation of HCS was not available, underscoring the reliance on clinical evaluation.

## Abstract

We report a case of a 29-year-old female with clinical features consistent with a very rare connective tissue disorder known as Hajdu-Cheney syndrome (HCS), with coexisting inflammatory arthritis suggestive of rheumatoid arthritis. HCS primarily affects the skeletal system and demonstrates a broad spectrum of clinical presentations, including possible systemic manifestations. It is thought that a change in the NOTCH2 gene plays a role in HCS. Genetic confirmation is not always available, and diagnosis often relies on clinical and radiological findings. This case highlights the diagnostic considerations and management challenges encountered when HCS is suspected, particularly in the presence of overlapping inflammatory joint disease.