Radio-Tartaglia syndrome

A syndrome that is caused by a variation in the SPEN gene and is characterized by developmental delay/intellectual disability, autism spectrum disorder, anxiety, aggressive behavior, attention deficit disorder, hypotonia, brain and spine anomalies, congenital heart defects, high/narrow palate, facial dysmorphisms, and obesity/increased BMI, especially in females.

What is Radio-Tartaglia syndrome?

Radio-Tartaglia syndrome 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 Radio-Tartaglia syndrome, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with Radio-Tartaglia syndrome

Conductive hearing impairmentConstipationDeeply set eyeDry skinDysphagiaGastroesophageal refluxHearing impairmentPeriorbital fullnessSeizureTremor

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.