May 08, 2019
The participant was born at 37 weeks weighing 3lbs 13oz. He spent 19 days in the NICU due to feeding difficulties. He began to experience recurrent upper and lower respiratory tract infections at 6 months and was later identified to have abnormal movement of the cilia (abnormal ciliary motility), upper airway obstruction, and asthma. He continued to have feeding difficulties and trouble growing (failure to thrive), which were complicated by episodic vomiting.
The participant experienced a seizure (generalized tonic-clonic) at 1 and a subsequent MRI showed brain abnormalities (ventriculomegaly, diffuse white matter volume loss). Currently he has global developmental delay, low muscle tone (muscular hypotonia), gastroesophageal reflux, and delayed gastric emptying (gastroparesis). Through the UDN he was diagnosed with Roifman syndrome caused by changes in the RNU4ATAC gene.
Clinicians and researchers have identified the following genetic changes to be causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.
Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.
Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.
The use of any information provided on this site is solely at your own risk.