One operation saw a shunt – a thin tube – placed in the baby’s head to drain the fluid putting pressure on her brain. After years of genetic tests and scans, Winnie was diagnosed with Coffin-Siris ...

Kelcie's six-year-old daughter Winnie has the extremely rare condition Coffin-Siris Syndrome - there are currently only 200 known cases in the world. Exasperated by the lengthy wait for a new ...

The team conducted experiments using stem cells derived from patients with Coffin-Siris Syndrome (CSS), a rare genetic disorder caused by insufficient gene function. CSS is characterized by ...

Background: Coffin-Siris syndrome (CSS) is a multiple congenital anomaly syndrome characterized by coarse facial features, sparse scalp hair, hypertrichosis, and hypo/aplastic digital nails and ...

Eddie and Emma Mulqueen’s 10-year-old son Faodhán (fay-din) suffers from Coffin-Siris syndrome which is a disorder caused by a chromosome abnormality and results in reduced cognitive function. It’s ...

This month’s cover story, “The Ones We Sent Away,” is a personal essay about Adele Halperin, Jennifer Senior’s aunt, who was born with a condition known as Coffin-Siris syndrome 12.

But in 2020, a group of 50-plus researchers announced their discovery of Coffin-Siris syndrome 12, the “12” signifying a rare subtype within an already rare disorder. At the time they made ...

Four-year-old Finnley has been diagnosed with Coffin-Siris Syndrome, a rare condition requiring different therapies and treatments in addition to making it difficult to move on her own.

Individuals with Coffin-Siris syndrome typically have distinctive facial features and may experience developmental delays. Other symptoms include feeding difficulties and issues with vision and ...