# A Rare Case of Carpenter Syndrome and Its Unique Association With Chronic Kidney Disease

## TL;DR

This case report describes a rare instance of Carpenter syndrome linked to chronic kidney disease, highlighting the need for further research into their genetic connection.

## Contribution

The paper presents a novel association between Carpenter syndrome and chronic kidney disease.

## Key findings

- Carpenter syndrome was found to be associated with chronic kidney disease in this rare case.
- The case emphasizes the importance of understanding shared genetic pathways in the syndrome's manifestations.
- Timely diagnosis and comprehensive care are highlighted as critical for managing such complex cases.

## Abstract

Carpenter syndrome, characterized by RAB23 mutations, is a rare autosomal recessive disorder distinguished by unique features such as craniofacial anomalies, congenital heart disease, brachydactyly, and obesity. This syndrome's rarity, with an estimated prevalence of one in a million births, poses diagnostic challenges due to its diverse clinical spectrum. Notably, this case report highlights an unusual association of Carpenter syndrome with chronic kidney disease (CKD), underscoring the need for further exploration into the syndromic interplay and shared genetic pathways. The distinctive manifestation of CKD in the context of Carpenter syndrome adds a novel dimension, emphasizing the importance of timely diagnosis and comprehensive care. Further research is warranted to unravel the intricate genetic and molecular pathways underlying the syndrome's diverse manifestations, shedding light on potential shared mechanisms and paving the way for targeted interventions and enhanced patient care.