CTCF-related neurodevelopmental disorder

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.

What is CTCF-related neurodevelopmental disorder?

CTCF-related neurodevelopmental disorder is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have CTCF-related neurodevelopmental disorder, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with CTCF-related neurodevelopmental disorder

AnxietyChronic constipationDepressionFailure to thriveGastroesophageal refluxGeneralised tonic-clonic seizure without focal onsetGeneralized tonic seizureHearing impairment

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.