Year: 2026
Type: article
Study design: Case Report
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.
Source: Cureus
Authors: Mehadi Hasan, Sanjida Sharmin, Abdullah Al Hossain Nidul
Institutions: Evercare Hospital Dhaka, Dhaka Medical College and Hospital
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7124174443