Oct 07, 2019
The participant was first seen in a genetics clinic at 11 months old because of facial differences (high arched eyebrow, abnormal face shape) and skull differences (metopic craniosynostosis). He was found to have some other physical differences such as one eye turned inward (esotropia), palate abnormalities, split uvula (bifid uvula) and webbed fingers (syndactyly). In addition, he has been noted to have curvature of the spine (kyphosis) and low muscle tone (hypotonia). In the past he had feeding difficulties which caused frequent vomiting. He also has poor balance and coordination which have caused many incidences of falls throughout his life.
The participant has had frequent and prolonged illnesses including ear infections. These have been treated with intravenous immunoglobulin (IVIG). He has also been diagnosed with autism, attention deficit hyperactive disorder (ADHD) and obsessive compulsive disorder (OCD). His parents have also noticed that he has an intolerance of heat and a high pain tolerance.
Clinicians and researchers have 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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