# Neurological and neuropsychological correlates of Klippel-Feil syndrome

## TL;DR

This paper explores the neurological and cognitive effects of Klippel-Feil syndrome, highlighting a rare case with mild symptoms and a visual-spatial deficit.

## Contribution

The study reports a novel association between Klippel-Feil syndrome and visuospatial impairment.

## Key findings

- A patient with severe cervical-occipital anomalies showed only mild clinical symptoms.
- The patient exhibited a slight visual-spatial deficit in neuropsychological tests.
- GDF6's role in retinotectal mapping may explain the observed visuospatial impairment.

## Abstract

Klippel-Feil syndrome is a rare congenital malformation caused by fusions of cervical vertebrae. In 50% of these patients, a triad of short neck, limited neck motion, and low posterior hairline characterizes the clinical presentation. In KFS, neurological deficits are common due to cervical canal stenosis and other deformities involving basicranial structures. Other congenital anomalies are also associated with the syndrome.

Our case describes a particular case of KFS, showing a disconnection between a severe involvement of the cervical-occipital structures indicated by magnetic resonance imaging and a mild clinical presentation. Moreover, a slight visual-spatial deficit was found in neuropsychological tests. No prior association between KFS and visuospatial impairment has been reported.

GDF6, a gene associated with KFS, plays a role in retinotectal mapping, which organizes visual stimuli in the brain. Early neurodevelopment abnormalities, such as atlanto-occipital anomalies in KFS, might affect related brain structures, which could explain the patient’s impaired visuospatial function. In addition, compensatory neuroplasticity underscores how the brain may adapt to congenital defects, even severe ones.

The online version contains supplementary material available at 10.1007/s10072-025-08454-7.