Schuurs-Hoeijmakers Syndrome
(PACS1 Syndrome)
Kelly
PACS1 is a rare genetic condition causing intellectual disability, significant speech/language delays, distinctive facial features (like wide-set eyes, downturned mouth, thick brows), and potential congenital anomalies, stemming from mutations in the PACS1 gene. Key features include extreme developmental delays, the inability to speak, problems with motor skills, low muscle tone, digestive issues, ocular abnormalities, and slow growth.
.At the time of Kelly’s diagnosis, there were only three or four cases in the United States.
That’s what you do with a special needs kid. If you don’t have an answer, you treat their symptoms and make them as happy as they can be; give them as much education as you can and get them to progress, no matter what it’s called.
– Elizabeth, Kelly’s mother
I fix things for a living, and I’m very good at it, and I can’t fix this.
– Lief, Kelly’s father
