On this page, you will find information about a UDN participant. We are trying to find others with the same or similar condition. (Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.)
Male, age 13 with global developmental delay, autism, severe nearsightedness (myopia), different facial features, and a history of heart defects (atrial septal defect, ventricular septal defect) and cleft palate
|Date of Report||September 8, 2016|
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
|Previously Considered Diagnoses||
Do you think this profile matches someone you know? Contact us via email or phone.