Heller's Syndrome

• Incidence: Estimated at 1 in 100,000 to 150,000 live births.
• Prevalence: Approximately 54,842 affected individuals worldwide.
• Gender Distribution: More common in males, with a ratio of 8:1.
• Typical Age of Onset: Infancy, with regression typically occurring between 2 and 4 years of age.

📝 Coding

• ICD-11: 6A02.3
• OMIM: 609380
• UMLS: C0239940
• MeSH: D002658
• GARD: 0011903 </aside>

Overview

Heller's Syndrome, also known as Childhood Disintegrative Disorder (CDD), is a rare developmental disorder characterized by a significant regression in multiple areas of functioning after at least two years of normal development. This regression typically affects language, social skills, motor skills, and bowel or bladder control.

Key Features

• Normal Development Followed by Regression: Children with Heller's Syndrome develop typically for at least the first two years of life. They then experience a marked regression in multiple areas of functioning.
• Severe Language Impairment: A significant loss of previously acquired language skills, often resulting in severe communication difficulties.
• Social and Emotional Withdrawal: A marked decline in social interactions and emotional responsiveness, often resembling autism spectrum disorder.
• Motor Skills Deterioration: Loss of previously acquired motor skills, including coordination and fine motor abilities.
• Bowel and Bladder Control Loss: Loss of previously established bowel and bladder control.