Aug 25, 2021
The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead of two (triphalangeal thumbs). The heart defects did not require surgery, but he needed to undergo a cleft palate repair (palatoplasty) in 2012.
Over time, the patient has developed severe nearsightedness (myopia) and acid reflux disease (gastroesophageal reflux), and is cross-eyed (strabismus).
Developmentally, he has been diagnosed with autism and global developmental delay. He participates in occupational, physical, and speech therapy regularly and has a one-on-one aid in the classroom.
In 2021, clinicians and researchers identified the following de novo genetic change to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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