From the Research
1p36.13 deletion syndrome is characterized by a range of symptoms, including developmental delay, intellectual disability, seizures, hypotonia, and distinctive facial features, as reported in the most recent study 1. The symptoms of 1p36.13 deletion syndrome can vary in severity depending on the size of the deletion.
- Common symptoms include:
- Developmental delay
- Intellectual disability
- Seizures
- Hypotonia (low muscle tone)
- Distinctive facial features, such as deep-set eyes, flat nasal bridge, and pointed chin
- Other frequent problems include:
- Hearing and vision defects, including optic nerve abnormalities and sensorineural hearing loss
- Heart defects, particularly atrial and ventricular septal defects
- Growth problems, including short stature and microcephaly (small head size)
- Behavioral issues, such as self-injury, temper tantrums, and autism spectrum features
- Gastrointestinal problems, like feeding difficulties and reflux The most recent study 1 highlights the variable presentations of 1p36 deletion syndrome in four patients, emphasizing the importance of early diagnosis for better prognostication and reproductive planning. Treatment for 1p36.13 deletion syndrome focuses on managing individual symptoms through therapies, such as physical, occupational, and speech therapy, as well as seizure medications and regular monitoring of heart, vision, and hearing 2. Early intervention is crucial to maximize developmental potential, and a multidisciplinary approach to diagnosis and treatment is necessary to meet the needs of patients with complex genetic disorders like 1p36 deletion syndrome 2.