CHEDDA syndrome: a case report and review of the literature for this newly described entity

Abstract

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) is a recently identified neurodevelopmental syndrome which has only 8 reported cases to date since its existence was proposed in 2007. We report a case of CHEDDA syndrome identified in a newborn female with congenital anomalies including Pierre–Robin sequence, arthrogryposis, craniosynostosis, cleft palate, and cardiac abnormalities who subsequently developed epilepsy at 1 month of life. Diagnosis was identified by whole-exome sequencing identifying mutations in a conserved histidine-rich motif within the gene Atrophin-1. Radiologic findings of cerebral atrophy, hypoplasia of the cerebellum, and thinning of the corpus callosum were identified in this patient, consistent with other reported cases. Given the rarity of this condition, we report this case and its findings to increase awareness of CHEDDA syndrome as a possible underlying diagnosis for neonates who present with this constellation of symptoms and radiologic findings.

Keywords

• CHEDDA syndrome
• Pediatric
• Developmental delay
• Allelic disorders